Variant report

Variant	esv3422495
Chromosome Location	chr2:46761899-46769356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:746)
CpG islands
(count:366)
Chromatin interactive
region (count:20)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:46768786-46769412	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:46768981-46769720	K562	blood:	n/a	n/a
3	ATF1	chr2:46767872-46768146	K562	blood:	n/a	n/a
4	ATF2	chr2:46762318-46762943	GM12878	blood:	n/a	n/a
5	ATF2	chr2:46768873-46769516	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:46768755-46769762	GM12878	blood:	n/a	n/a
7	ATF2	chr2:46768975-46769679	GM12878	blood:	n/a	n/a
8	ATF3	chr2:46768493-46769183	A549	lung:	n/a	n/a
9	ATF3	chr2:46768833-46769812	A549	lung:	n/a	chr2:46769469-46769479
10	ATF3	chr2:46769195-46769725	K562	blood:	n/a	chr2:46769469-46769479
11	BACH1	chr2:46768949-46769743	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr2:46769300-46769651	GM12878	blood:	n/a	n/a
13	BATF	chr2:46769353-46769573	GM12878	blood:	n/a	n/a
14	BCL3	chr2:46768935-46769678	A549	lung:	n/a	n/a
15	BCL3	chr2:46768666-46769308	A549	lung:	n/a	n/a
16	BCLAF1	chr2:46768926-46769693	GM12878	blood:	n/a	n/a
17	BCLAF1	chr2:46768766-46769845	GM12878	blood:	n/a	chr2:46769824-46769833
18	BHLHE40	chr2:46768907-46769839	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:46761734-46762959	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:46765698-46765744	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:46768753-46769601	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:46768915-46769716	K562	blood:	n/a	n/a
23	BRCA1	chr2:46768984-46769016	HepG2	liver:	n/a	n/a
24	BRCA1	chr2:46767926-46768217	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr2:46768934-46769273	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr2:46768708-46769708	K562	blood:	n/a	n/a
27	CEBPB	chr2:46769242-46769704	ECC-1	luminal epithelium:	n/a	chr2:46769466-46769477
28	CEBPB	chr2:46769299-46769729	HepG2	liver:	n/a	chr2:46769466-46769477
29	CEBPB	chr2:46765558-46765807	Hela-S3	cervix:	n/a	chr2:46765682-46765693 chr2:46765683-46765692 chr2:46765681-46765694
30	CEBPB	chr2:46768861-46769702	MCF-7	breast:	n/a	chr2:46769466-46769477
31	CEBPB	chr2:46769176-46769690	MCF-7	breast:	n/a	chr2:46769466-46769477
32	CEBPB	chr2:46768876-46769668	H1-hESC	embryonic stem cell:	n/a	chr2:46769466-46769477
33	CEBPB	chr2:46765599-46765830	A549	lung:	n/a	chr2:46765682-46765693 chr2:46765683-46765692 chr2:46765681-46765694
34	CEBPB	chr2:46767835-46768178	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr2:46768971-46769671	A549	lung:	n/a	chr2:46769466-46769477
36	CEBPB	chr2:46761806-46762047	K562	blood:	n/a	n/a
37	CEBPB	chr2:46769272-46769649	K562	blood:	n/a	chr2:46769466-46769477
38	CEBPB	chr2:46769007-46769733	ECC-1	luminal epithelium:	n/a	chr2:46769466-46769477
39	CEBPB	chr2:46768877-46769714	K562	blood:	n/a	chr2:46769466-46769477
40	CEBPB	chr2:46765539-46765869	HepG2	liver:	n/a	chr2:46765682-46765693 chr2:46765683-46765692 chr2:46765681-46765694
41	CEBPB	chr2:46769074-46769675	A549	lung:	n/a	chr2:46769466-46769477
42	CEBPB	chr2:46765527-46765869	IMR90	lung:	n/a	chr2:46765682-46765693 chr2:46765683-46765692 chr2:46765681-46765694
43	CEBPB	chr2:46768916-46769693	K562	blood:	n/a	chr2:46769466-46769477
44	CEBPB	chr2:46768983-46769691	IMR90	lung:	n/a	chr2:46769466-46769477
45	CEBPB	chr2:46768945-46769728	GM12878	blood:	n/a	chr2:46769466-46769477
46	CEBPB	chr2:46769274-46769665	HepG2	liver:	n/a	chr2:46769466-46769477
47	CEBPB	chr2:46768928-46769675	Hela-S3	cervix:	n/a	chr2:46769466-46769477
48	CEBPB	chr2:46765607-46765850	K562	blood:	n/a	chr2:46765682-46765693 chr2:46765683-46765692 chr2:46765681-46765694
49	CEBPB	chr2:46765550-46765861	K562	blood:	n/a	chr2:46765682-46765693 chr2:46765683-46765692 chr2:46765681-46765694
50	CEBPB	chr2:46769352-46769580	HepG2	liver:	n/a	chr2:46769466-46769477

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46765700-46765750	GM12891	blood:	n/a
2	chr2:46768944-46768994	SAEC	small airway:	n/a
3	chr2:46768944-46768994	BJ	skin:	n/a
4	chr2:46768944-46768994	AG09319	gingival:	n/a
5	chr2:46769064-46769114	HCM	heart:	n/a
6	chr2:46768030-46768080	AG09309	skin:	n/a
7	chr2:46768944-46768994	HAEpiC	amniotic membrane:	n/a
8	chr2:46769064-46769114	HRCEpiC	kidney:	n/a
9	chr2:46768030-46768080	T-47D	breast:	n/a
10	chr2:46769311-46769361	SKMC	muscle:	n/a
11	chr2:46768030-46768080	NH-A	brain:	n/a
12	chr2:46768944-46768994	LNCaP	prostate:	n/a
13	chr2:46769311-46769361	HCM	heart:	n/a
14	chr2:46769311-46769361	GM12892	blood:	n/a
15	chr2:46769311-46769361	AoSMC	blood vessel:	n/a
16	chr2:46768111-46768161	AG09309	skin:	n/a
17	chr2:46769064-46769114	MCF-7	breast:	n/a
18	chr2:46768944-46768994	H1-hESC	embryonic stem cell:	embryo
19	chr2:46769064-46769114	SKMC	muscle:	n/a
20	chr2:46768030-46768080	HAEpiC	amniotic membrane:	n/a
21	chr2:46768111-46768161	Hepatocyte	liver:	n/a
22	chr2:46769064-46769114	CMK	blood:	n/a
23	chr2:46765700-46765750	CMK	blood:	n/a
24	chr2:46768030-46768080	HRCEpiC	kidney:	n/a
25	chr2:46769064-46769114	NH-A	brain:	n/a
26	chr2:46768944-46768994	T-47D	breast:	n/a
27	chr2:46769311-46769361	Hela-S3	cervix:	n/a
28	chr2:46768944-46768994	HepG2	liver:	n/a
29	chr2:46769064-46769114	HRE	kidney:	n/a
30	chr2:46769064-46769114	H1-hESC	embryonic stem cell:	embryo
31	chr2:46768030-46768080	U87	brain:	n/a
32	chr2:46768944-46768994	NH-A	brain:	n/a
33	chr2:46768111-46768161	HMEC	breast:	n/a
34	chr2:46769064-46769114	HL-60	blood:	n/a
35	chr2:46769064-46769114	K562	blood:	n/a
36	chr2:46769064-46769114	Hepatocyte	liver:	n/a
37	chr2:46768944-46768994	ovcar-3	ovarian:	n/a
38	chr2:46769311-46769361	GM12891	blood:	n/a
39	chr2:46769311-46769361	H1-hESC	embryonic stem cell:	embryo
40	chr2:46768030-46768080	GM06990	blood:	n/a
41	chr2:46768111-46768161	PANC-1	pancreas:	n/a
42	chr2:46768111-46768161	GM12892	blood:	n/a
43	chr2:46769064-46769114	T-47D	breast:	n/a
44	chr2:46769311-46769361	Hepatocyte	liver:	n/a
45	chr2:46768030-46768080	NHBE	bronchial:	n/a
46	chr2:46769064-46769114	HCPEpiC	choroid plexus:	n/a
47	chr2:46768111-46768161	Hela-S3	cervix:	n/a
48	chr2:46768111-46768161	NHDF-neo	bronchial:	n/a
49	chr2:46768111-46768161	HRPEpiC	eye:	n/a
50	chr2:46768030-46768080	Hela-S3	cervix:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46765611..46767976-chr2:47402425..47404067,2	K562	blood:
2	chr2:46769235..46772209-chr2:46814826..46816628,2	K562	blood:
3	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:
4	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
5	chr2:46761516..46767079-chr2:46767675..46771202,5	MCF-7	breast:
6	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
7	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
8	chr10:46090060..46090810-chr2:46769073..46769643,2	HCT-116	colon:
9	chr2:46760904..46763174-chr2:46763774..46765931,2	K562	blood:
10	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
11	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
12	chr2:46768702..46771490-chr2:47403057..47405507,2	MCF-7	breast:
13	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
14	chr2:46762190..46765121-chr2:46768994..46770686,2	MCF-7	breast:
15	chr2:46760904..46763174-chr2:46763774..46765931,2	K562	blood:
16	chr2:46704470..46707025-chr2:46769256..46770963,2	MCF-7	breast:
17	chr2:46761089..46765156-chr2:46769193..46772808,5	K562	blood:
18	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
19	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
20	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1E2-5	chr2:46764515-46764715	NONHSAT070510
2	lnc-ATP6V1E2-5	chr2:46761439-46763066	NONHSAT070508
3	lnc-ATP6V1E2-5	chr2:46768529-46768722	NONHSAT070506
4	lnc-ATP6V1E2-5	chr2:46762952-46763066	NONHSAT070506
5	lnc-ATP6V1E2-5	chr2:46762952-46763066	NONHSAT070501
6	lnc-ATP6V1E2-5	chr2:46762953-46763066	NONHSAT070507
7	lnc-RHOQ-2	chr2:46763750-46763842	NONHSAT070509
8	lnc-ATP6V1E2-5	chr2:46768530-46768722	NONHSAT070507
9	lnc-ATP6V1E2-5	chr2:46763750-46763842	NONHSAT070506
10	lnc-RHOQ-2	chr2:46762835-46763066	NONHSAT070509
11	lnc-ATP6V1E2-5	chr2:46763750-46763842	NONHSAT070501
12	lnc-ATP6V1E2-5	chr2:46763750-46763842	NONHSAT070510
13	lnc-ATP6V1E2-5	chr2:46763751-46763842	NONHSAT070507
14	lnc-ATP6V1E2-5	chr2:46768529-46768728	NONHSAT070510
15	lnc-ATP6V1E2-5	chr2:46768815-46769317	NONHSAT070501
16	lnc-ATP6V1E2-5	chr2:46768529-46769141	NONHSAT070508
17	lnc-ATP6V1E2-5	chr2:46762952-46763066	NONHSAT070510
18	lnc-RHOQ-2	chr2:46768529-46768609	NONHSAT070509
19	lnc-ATP6V1E2-5	chr2:46763750-46763842	NONHSAT070508
20	lnc-ATP6V1E2-5	chr2:46768529-46768592	NONHSAT070501

No data

Variant related genes	Relation type
RHOQ	TF binding region
ATP6V1E2	TF binding region
RHOQ	CpG island
ATP6V1E2	CpG island
ENSG00000187600	chromatin interactions
ENSG00000165406	chromatin interactions
ENSG00000250565	chromatin interactions
ENSG00000253515	chromatin interactions
ENSG00000068724	chromatin interactions
ENSG00000151665	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000119878	chromatin interactions
ENSG00000143933	chromatin interactions

Extended variants
information (count: 325 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111391741	chr2:46761907-46761908	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs10667126	chr2:46761908-46761909	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs386390112	chr2:46761909-46761910	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs34235031	chr2:46761911-46761912	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs397692045	chr2:46761912-46761913	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs200353121	chr2:46761913-46761914	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs114996518	chr2:46761973-46761974	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs377104422	chr2:46761987-46761988	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs182328545	chr2:46761992-46761993	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs78186254	chr2:46762023-46762024	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs4952832	chr2:46762029-46762030	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4952833	chr2:46762034-46762035	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs73927883	chr2:46762042-46762043	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113898817	chr2:46762048-46762049	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs570524573	chr2:46762066-46762067	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs375926688	chr2:46762069-46762070	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs550833786	chr2:46762075-46762076	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs556206938	chr2:46762108-46762109	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs138771717	chr2:46762163-46762164	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs60154242	chr2:46762200-46762201	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs370180485	chr2:46762217-46762218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs555530039	chr2:46762293-46762294	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs141377468	chr2:46762305-46762306	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs541129206	chr2:46762355-46762356	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs564129548	chr2:46762394-46762395	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs545932237	chr2:46762451-46762452	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs561874435	chr2:46762463-46762464	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs532972564	chr2:46762479-46762480	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs543375664	chr2:46762516-46762517	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs150371839	chr2:46762519-46762520	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs192027657	chr2:46762525-46762526	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs369273377	chr2:46762528-46762529	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs1979137	chr2:46762534-46762535	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs568320526	chr2:46762560-46762561	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs184155039	chr2:46762594-46762595	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs11676473	chr2:46762596-46762597	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs570584446	chr2:46762600-46762601	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs72875677	chr2:46762623-46762624	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138055613	chr2:46762646-46762647	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs74331478	chr2:46762648-46762649	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs535735051	chr2:46762704-46762705	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs562033978	chr2:46762710-46762711	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs371071442	chr2:46762789-46762790	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs572278561	chr2:46762798-46762799	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs114906149	chr2:46762806-46762807	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs557906064	chr2:46762954-46762955	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs117812295	chr2:46762995-46762996	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs543082297	chr2:46762999-46763000	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs201082932	chr2:46763001-46763002	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs7581638	chr2:46763076-46763077	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46746400-46762800	Weak transcription	Liver	Liver
2	chr2:46747800-46766800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:46748800-46766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:46748800-46767800	Weak transcription	HSMM	muscle
5	chr2:46748800-46768400	Weak transcription	Ovary	ovary
6	chr2:46752000-46762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:46752000-46766000	Weak transcription	Brain Substantia Nigra	brain
8	chr2:46753000-46767800	Weak transcription	Placenta	Placenta
9	chr2:46753600-46768000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:46755800-46767800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:46756000-46766400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:46756400-46762200	Weak transcription	Thymus	Thymus
13	chr2:46756400-46768200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:46756600-46762000	Weak transcription	Brain Anterior Caudate	brain
15	chr2:46756600-46767800	Weak transcription	Pancreas	Pancrea
16	chr2:46757000-46764200	Weak transcription	Left Ventricle	heart
17	chr2:46757400-46762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:46757800-46765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:46759400-46762000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:46760200-46768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:46760600-46767200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:46760800-46766800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:46760800-46767800	Weak transcription	Fetal Lung	lung
24	chr2:46761000-46762000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:46761000-46767800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:46761200-46762600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:46761200-46763600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:46761200-46763800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:46761200-46764000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:46761200-46767800	Weak transcription	NHEK	skin
31	chr2:46761200-46768600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:46761200-46768800	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:46761400-46762000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:46761400-46763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:46761400-46768200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:46761600-46762400	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr2:46761600-46763000	Flanking Active TSS	GM12878-XiMat	blood
38	chr2:46761600-46763200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:46761600-46763400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:46761600-46765400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:46761600-46768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:46761800-46762000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr2:46761800-46762000	Genic enhancers	Aorta	Aorta
44	chr2:46761800-46762200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr2:46761800-46762200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:46761800-46762200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr2:46761800-46762200	Enhancers	K562	blood
48	chr2:46761800-46762400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr2:46761800-46762400	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:46761800-46762600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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