Variant report

Variant	nsv875014
Chromosome Location	chr2:128178415-128328375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2922)
CpG islands
(count:2993)
Chromatin interactive
region (count:164)
LncRNA
region (count:36)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:2922 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:128233857-128234046	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:128195688-128196548	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:128211085-128211371	K562	blood:	n/a	n/a
4	ARID3A	chr2:128283918-128285163	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:128284219-128285063	K562	blood:	n/a	n/a
6	ARID3A	chr2:128229916-128230152	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:128222915-128223000	K562	blood:	n/a	n/a
8	ARID3A	chr2:128212437-128213386	HepG2	liver:	n/a	chr2:128212707-128212723
9	ARID3A	chr2:128268683-128269287	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:128256045-128256460	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:128236940-128237211	K562	blood:	n/a	n/a
12	ARID3A	chr2:128210954-128211408	HepG2	liver:	n/a	n/a
13	ATF1	chr2:128300470-128300913	K562	blood:	n/a	n/a
14	ATF1	chr2:128283978-128285078	K562	blood:	n/a	n/a
15	ATF1	chr2:128266178-128266539	K562	blood:	n/a	n/a
16	ATF2	chr2:128266148-128266511	GM12878	blood:	n/a	n/a
17	ATF2	chr2:128262521-128263088	GM12878	blood:	n/a	n/a
18	ATF2	chr2:128320914-128321660	GM12878	blood:	n/a	n/a
19	ATF2	chr2:128283970-128284574	GM12878	blood:	n/a	n/a
20	ATF2	chr2:128321060-128321609	GM12878	blood:	n/a	n/a
21	ATF2	chr2:128283709-128284712	GM12878	blood:	n/a	n/a
22	ATF2	chr2:128283787-128285009	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr2:128283870-128284673	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr2:128220053-128220482	GM12878	blood:	n/a	n/a
25	ATF3	chr2:128266152-128266503	K562	blood:	n/a	n/a
26	BACH1	chr2:128236365-128236614	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr2:128283510-128283747	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr2:128213484-128214002	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr2:128237977-128238381	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr2:128221165-128221409	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr2:128266173-128266758	K562	blood:	n/a	chr2:128266306-128266320
32	BACH1	chr2:128284119-128284496	K562	blood:	n/a	n/a
33	BATF	chr2:128262663-128263017	GM12878	blood:	n/a	n/a
34	BATF	chr2:128220093-128220450	GM12878	blood:	n/a	n/a
35	BATF	chr2:128204004-128204170	GM12878	blood:	n/a	n/a
36	BATF	chr2:128262611-128263054	GM12878	blood:	n/a	n/a
37	BATF	chr2:128321260-128321654	GM12878	blood:	n/a	n/a
38	BATF	chr2:128220144-128220424	GM12878	blood:	n/a	n/a
39	BATF	chr2:128281179-128281461	GM12878	blood:	n/a	n/a
40	BATF	chr2:128321136-128321858	GM12878	blood:	n/a	n/a
41	BCL11A	chr2:128321108-128321562	GM12878	blood:	n/a	n/a
42	BCL11A	chr2:128321116-128321593	GM12878	blood:	n/a	n/a
43	BCL3	chr2:128283783-128284777	A549	lung:	n/a	chr2:128284504-128284512
44	BCL3	chr2:128236013-128237322	A549	lung:	n/a	n/a
45	BCL3	chr2:128266041-128266829	A549	lung:	n/a	chr2:128266447-128266456
46	BCLAF1	chr2:128321005-128321709	GM12878	blood:	n/a	n/a
47	BCLAF1	chr2:128236731-128237263	GM12878	blood:	n/a	n/a
48	BCLAF1	chr2:128283740-128284710	GM12878	blood:	n/a	chr2:128284504-128284512
49	BCLAF1	chr2:128283396-128284728	GM12878	blood:	n/a	chr2:128284504-128284512 chr2:128283670-128283683 chr2:128283399-128283408
50	BHLHE40	chr2:128195310-128196366	HepG2	liver:	n/a	chr2:128195828-128195849 chr2:128195835-128195844 chr2:128195833-128195842 chr2:128195834-128195843 chr2:128195834-128195843 chr2:128195832-128195845

(count:2993 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128288443-128288493	PANC-1	pancreas:	n/a
2	chr2:128293239-128293289	SK-N-SH_RA	brain:	n/a
3	chr2:128284023-128284073	HIPEpiC	eye:	n/a
4	chr2:128284093-128284143	AG09319	gingival:	n/a
5	chr2:128288443-128288493	PANC-1	pancreas:	n/a
6	chr2:128293239-128293289	SK-N-SH_RA	brain:	n/a
7	chr2:128284023-128284073	HIPEpiC	eye:	n/a
8	chr2:128284093-128284143	AG09319	gingival:	n/a
9	chr2:128293186-128293236	LNCaP	prostate:	n/a
10	chr2:128284093-128284143	HCF	heart:	n/a
11	chr2:128284465-128284515	NT2-D1	testis:	n/a
12	chr2:128298086-128298136	GM12891	blood:	n/a
13	chr2:128213844-128213894	NHBE	bronchial:	n/a
14	chr2:128180488-128180538	HMEC	breast:	n/a
15	chr2:128181325-128181375	AoSMC	blood vessel:	n/a
16	chr2:128281334-128281384	HUVEC	blood vessel:	n/a
17	chr2:128272540-128272590	SK-N-SH	brain:	n/a
18	chr2:128284637-128284687	HMEC	breast:	n/a
19	chr2:128284730-128284780	SK-N-MC	brain:	n/a
20	chr2:128298086-128298136	SKMC	muscle:	n/a
21	chr2:128283727-128283777	HCM	heart:	n/a
22	chr2:128283815-128283865	HepG2	liver:	n/a
23	chr2:128317170-128317220	GM12878	blood:	n/a
24	chr2:128283239-128283289	NHDF-neo	bronchial:	n/a
25	chr2:128194918-128194968	HepG2	liver:	n/a
26	chr2:128284252-128284302	SK-N-MC	brain:	n/a
27	chr2:128284154-128284204	AoSMC	blood vessel:	n/a
28	chr2:128284158-128284208	A549	lung:	n/a
29	chr2:128285392-128285442	A549	lung:	n/a
30	chr2:128180488-128180538	HRCEpiC	kidney:	n/a
31	chr2:128263013-128263063	SK-N-SH_RA	brain:	n/a
32	chr2:128283815-128283865	HNPCEpiC	eye:	n/a
33	chr2:128285609-128285659	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:128283535-128283585	HMEC	breast:	n/a
35	chr2:128284020-128284070	HEEpiC	esophagus:	n/a
36	chr2:128213844-128213894	SK-N-MC	brain:	n/a
37	chr2:128186748-128186798	SK-N-SH_RA	brain:	n/a
38	chr2:128180646-128180696	SK-N-SH_RA	brain:	n/a
39	chr2:128181313-128181363	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:128238578-128238628	GM19239	blood:	n/a
41	chr2:128186748-128186798	U87	brain:	n/a
42	chr2:128186071-128186121	HIPEpiC	eye:	n/a
43	chr2:128284158-128284208	AG09319	gingival:	n/a
44	chr2:128281334-128281384	NH-A	brain:	n/a
45	chr2:128283535-128283585	AG09309	skin:	n/a
46	chr2:128244940-128244990	AG04449	skin:	fetal
47	chr2:128282080-128282130	SK-N-SH_RA	brain:	n/a
48	chr2:128186258-128186308	NHBE	bronchial:	n/a
49	chr2:128263013-128263063	PrEC	prostate:	n/a
50	chr2:128282080-128282130	AG04449	skin:	fetal

(count:164 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr2:128183243..128185185-chr2:128188049..128189643,2	MCF-7	breast:
2	chr2:128271568..128276709-chr2:128278536..128286742,13	K562	blood:
3	chr2:128234838..128237343-chr2:128250222..128254219,3	K562	blood:
4	chr2:128281740..128285599-chr2:128456961..128460579,6	K562	blood:
5	chr2:128266356..128269288-chr2:128281664..128284175,4	MCF-7	breast:
6	chr2:128234838..128236563-chr2:128251680..128254219,2	K562	blood:
7	chr2:128305790..128308359-chr2:128310339..128312423,2	K562	blood:
8	chr2:128278204..128279874-chr2:128280067..128281749,2	K562	blood:
9	chr2:128281670..128284609-chr2:128307650..128309640,2	K562	blood:
10	chr2:128285728..128286540-chr2:128432718..128433627,2	MCF-7	breast:
11	chr2:128271568..128276709-chr2:128278536..128286742,13	K562	blood:
12	chr1:186798323..186798999-chr2:128284697..128285443,2	Hela-S3	cervix:
13	chr2:127955147..127956099-chr2:128210616..128211593,2	MCF-7	breast:
14	chr2:128145591..128147512-chr2:128256249..128258543,2	MCF-7	breast:
15	chr2:128282942..128286699-chr2:128456814..128459461,6	K562	blood:
16	chr2:128220774..128223723-chr2:128228116..128231015,2	K562	blood:
17	chr2:128178778..128180626-chr2:128184042..128185706,2	MCF-7	breast:
18	chr2:128234838..128236563-chr2:128251680..128254219,2	K562	blood:
19	chr2:128268475..128271778-chr2:128281782..128285622,5	K562	blood:
20	chr2:128145128..128146772-chr2:128281228..128284838,3	MCF-7	breast:
21	chr2:128221686..128223814-chr2:128225539..128227819,2	MCF-7	breast:
22	chr2:128261114..128269570-chr2:128281581..128286258,13	K562	blood:
23	chr2:128282521..128284586-chr2:128401987..128404000,3	MCF-7	breast:
24	chr2:128046716..128049182-chr2:128190695..128192464,2	K562	blood:
25	chr2:128263369..128266760-chr2:128270837..128273303,3	K562	blood:
26	chr2:128252742..128257786-chr2:128259885..128265839,7	K562	blood:
27	chr2:128063086..128065825-chr2:128211149..128213069,2	MCF-7	breast:
28	chr2:128266465..128268562-chr2:128395784..128397620,2	MCF-7	breast:
29	chr2:128281712..128283571-chr2:128434827..128436741,2	K562	blood:
30	chr2:128112156..128113664-chr2:128210673..128211919,7	MCF-7	breast:
31	chr2:128190834..128192414-chr2:128194744..128197239,2	K562	blood:
32	chr2:128160704..128163644-chr2:128286914..128289869,2	K562	blood:
33	chr2:128195490..128198438-chr2:128232542..128234946,2	K562	blood:
34	chr2:128266970..128268889-chr2:128276215..128277935,2	K562	blood:
35	chr2:128288386..128290312-chr2:128297591..128299207,2	MCF-7	breast:
36	chr2:128190834..128192414-chr2:128194744..128197239,2	K562	blood:
37	chr2:128081990..128082927-chr2:128236340..128237420,5	MCF-7	breast:
38	chr2:128264079..128266201-chr2:128268340..128270505,2	MCF-7	breast:
39	chr2:128261114..128269570-chr2:128281581..128286258,13	K562	blood:
40	chr2:128281830..128287084-chr2:128456997..128460931,12	MCF-7	breast:
41	chr2:127954574..127955249-chr2:128236342..128237229,4	MCF-7	breast:
42	chr2:128246179..128248440-chr2:128251360..128253432,3	MCF-7	breast:
43	chr17:57923753..57926403-chr2:128283253..128285757,2	MCF-7	breast:
44	chr2:128288901..128291485-chr2:128567885..128570400,2	MCF-7	breast:
45	chr2:128223739..128227371-chr2:128227403..128230155,4	K562	blood:
46	chr2:128180258..128182858-chr2:128194927..128196802,2	MCF-7	breast:
47	chr1:23885551..23886273-chr2:128284438..128285074,2	Hela-S3	cervix:
48	chr2:128239618..128241448-chr2:128243319..128244992,2	K562	blood:
49	chr2:128283198..128285584-chr2:128297350..128300267,2	MCF-7	breast:
50	chr2:127955337..127956037-chr2:128237940..128238875,2	K562	blood:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROC-2	chr2:128227931-128228427	ENSG00000231731.3
2	lnc-PROC-2	chr2:128225284-128225424	ENSG00000231731.3
3	lnc-PROC-4	chr2:128215007-128215733	NONHSAT074160
4	lnc-PROC-4	chr2:128213022-128213465	NONHSAT074160
5	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.3
6	lnc-IWS1-1	chr2:128318774-128319641	ucscGeneNc_uc010fmc_1
7	lnc-PROC-2	chr2:128240404-128240551	ENSG00000231731.3
8	lnc-PROC-2	chr2:128247108-128247368	ENSG00000231731.3
9	lnc-PROC-2	chr2:128225150-128225424	XLOC_001663
10	lnc-MAP3K2-2	chr2:128193816-128193873	XLOC_002310
11	lnc-PROC-2	chr2:128225249-128225424	ENSG00000231731.3
12	lnc-PROC-2	chr2:128225153-128225424	ENSG00000231731.2
13	lnc-PROC-2	chr2:128243996-128244093	ENSG00000231731.3
14	lnc-IWS1-1	chr2:128317620-128319553	ENSG00000250457
15	lnc-PROC-2	chr2:128227931-128228031	ENSG00000231731.3
16	lnc-IWS1-1	chr2:128317597-128318108	ucscGeneNc_uc010fmc_1
17	lnc-MAP3K2-2	chr2:128227562-128227710	XLOC_002310
18	lnc-MAP3K2-2	chr2:128227827-128228064	XLOC_002310
19	lnc-PROC-2	chr2:128247108-128247361	ENSG00000231731.3
20	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.2
21	lnc-PROC-2	chr2:128247108-128247336	ENSG00000231731.3
22	lnc-PROC-2	chr2:128247108-128247366	ENSG00000231731.2
23	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.3
24	lnc-MYO7B-1	chr2:128286876-128287524	NONHSAT074171
25	lnc-PROC-2	chr2:128225284-128225424	ENSG00000231731.3
26	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.3
27	lnc-PROC-2	chr2:128225590-128225676	XLOC_001663
28	lnc-PROC-2	chr2:128243996-128244093	ENSG00000231731.3
29	lnc-PROC-2	chr2:128225590-128225702	ENSG00000231731.3
30	lnc-PROC-2	chr2:128245561-128245722	ENSG00000231731.3
31	lnc-PROC-2	chr2:128225284-128225424	ENSG00000231731.3
32	lnc-PROC-2	chr2:128240404-128240551	ENSG00000231731.3
33	lnc-IWS1-1	chr2:128322263-128322364	ENSG00000250457
34	lnc-PROC-4	chr2:128213742-128213941	NONHSAT074160
35	lnc-PROC-2	chr2:128221218-128221460	ENSG00000231731.3
36	lnc-MAP3K2-4	chr2:128258673-128259739	NONHSAT074169

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4783-5p	chr2:128181162-128181182	MIMAT0019946
hsa-miR-4783-3p	chr2:128181122-128181144	MIMAT0019947

No data

Variant related genes	Relation type
IWS1	TF binding region
RNU4-48P	TF binding region
ENSG00000231731	TF binding region
MYO7B	TF binding region
MIR4783	TF binding region
PROC	TF binding region
IWS1	CpG island
RNU4-48P	CpG island
ENSG00000231731	CpG island
MYO7B	CpG island
MIR4783	CpG island
PROC	CpG island
ENSG00000197702	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000136709	chromatin interactions
ENSG00000011295	chromatin interactions
ENSG00000264075	chromatin interactions
ENSG00000169994	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000117318	chromatin interactions
ENSG00000115718	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000171530	chromatin interactions
ENSG00000072163	chromatin interactions
ENSG00000144230	chromatin interactions
ENSG00000202429	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000163161	chromatin interactions
ENSG00000169967	chromatin interactions
ENSG00000231731	chromatin interactions
ENSG00000163166	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000236682	chromatin interactions
TMEM45A	miRNA target sites
MYBL1	miRNA target sites
PACRGL	miRNA target sites
DDX10	miRNA target sites
MRE11A	miRNA target sites
RTN4	miRNA target sites
TMEM55B	miRNA target sites

Extended variants
information (count: 5900 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5900 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2069916	chr2:128178415-128178416	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574927662	chr2:128178523-128178524	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2069917	chr2:128178527-128178528	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116428211	chr2:128178535-128178536	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs532165569	chr2:128178536-128178537	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545842114	chr2:128178540-128178541	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576663389	chr2:128178589-128178590	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs141446713	chr2:128178597-128178598	Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531677728	chr2:128178705-128178706	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548461557	chr2:128178711-128178712	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547483675	chr2:128178741-128178742	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150848560	chr2:128178746-128178747	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566601728	chr2:128178747-128178748	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538727437	chr2:128178758-128178759	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371581716	chr2:128178813-128178814	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138057813	chr2:128178842-128178843	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs199825649	chr2:128178843-128178844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs552714462	chr2:128178878-128178879	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs199514227	chr2:128178906-128178907	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs369504169	chr2:128178913-128178914	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs141040323	chr2:128178926-128178927	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs376049280	chr2:128178948-128178949	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs574949343	chr2:128178958-128178959	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs121918148	chr2:128178973-128178974	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs201463891	chr2:128178986-128178987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs199469481	chr2:128178996-128178997	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs568473236	chr2:128178997-128178998	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs121918149	chr2:128179014-128179015	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs199469482	chr2:128179030-128179031	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs528055589	chr2:128179040-128179041	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs554385266	chr2:128179064-128179065	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs370765189	chr2:128179065-128179066	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs577046626	chr2:128179081-128179082	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs545905451	chr2:128179152-128179153	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs149503686	chr2:128179179-128179180	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs115787784	chr2:128179254-128179255	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs2069918	chr2:128179326-128179327	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs561984907	chr2:128179396-128179397	Bivalent Enhancer Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs541551085	chr2:128179405-128179406	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs527518310	chr2:128179458-128179459	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs547601272	chr2:128179484-128179485	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs570299158	chr2:128179505-128179506	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs532514068	chr2:128179506-128179507	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs147227592	chr2:128179508-128179509	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs2069919	chr2:128179553-128179554	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs538202589	chr2:128179618-128179619	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs554983976	chr2:128179620-128179621	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs2069920	chr2:128179646-128179647	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534210276	chr2:128179650-128179651	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs2069937	chr2:128179659-128179660	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:3935 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128174000-128180600	Weak transcription	Right Atrium	heart
2	chr2:128174800-128180400	Weak transcription	Spleen	Spleen
3	chr2:128175000-128180000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:128176200-128179800	Weak transcription	Dnd41	blood
5	chr2:128176400-128180400	Weak transcription	Pancreas	Pancrea
6	chr2:128176800-128179800	Weak transcription	Gastric	stomach
7	chr2:128177400-128178600	Transcr. at gene 5' and 3'	HepG2	liver
8	chr2:128177800-128179800	Enhancers	Fetal Thymus	thymus
9	chr2:128177800-128180600	Weak transcription	A549	lung
10	chr2:128178000-128178600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:128178000-128179000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:128178200-128178600	Transcr. at gene 5' and 3'	Liver	Liver
13	chr2:128178600-128178800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:128178600-128179600	Genic enhancers	HepG2	liver
15	chr2:128178600-128180200	Genic enhancers	Liver	Liver
16	chr2:128178800-128179600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:128179000-128181000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr2:128179400-128180400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:128179600-128180000	Strong transcription	HepG2	liver
20	chr2:128179600-128181400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:128179800-128180000	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:128179800-128180000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:128179800-128180000	Bivalent Enhancer	Esophagus	oesophagus
24	chr2:128179800-128180000	Enhancers	Dnd41	blood
25	chr2:128179800-128180000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr2:128179800-128180200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:128179800-128180400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr2:128179800-128180400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr2:128179800-128180400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:128179800-128180400	Bivalent Enhancer	Fetal Thymus	thymus
31	chr2:128179800-128180800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:128179800-128181000	Active TSS	Gastric	stomach
33	chr2:128180000-128180200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
34	chr2:128180000-128180200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr2:128180000-128180200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:128180000-128180200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
37	chr2:128180000-128180200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr2:128180000-128180200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr2:128180000-128180200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:128180000-128180200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr2:128180000-128180200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr2:128180000-128180200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:128180000-128180200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr2:128180000-128180200	Bivalent Enhancer	Fetal Brain Female	brain
45	chr2:128180000-128180400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:128180000-128180400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr2:128180000-128180400	Enhancers	Primary B cells from cord blood	blood
48	chr2:128180000-128180400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:128180000-128180400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:128180000-128180400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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