Variant report

Variant	esv3487602
Chromosome Location	chr2:100102570-100106918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:100106704-100107165	K562	blood:	n/a	n/a
2	ARID3A	chr2:100106642-100107333	HepG2	liver:	n/a	n/a
3	ATF2	chr2:100106467-100107234	GM12878	blood:	n/a	n/a
4	ATF3	chr2:100106585-100106829	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr2:100106477-100106874	H1-hESC	embryonic stem cell:	n/a	chr2:100106504-100106513
6	ATF3	chr2:100105956-100106296	K562	blood:	n/a	chr2:100106063-100106071
7	ATF3	chr2:100106600-100106832	GM12878	blood:	n/a	n/a
8	ATF3	chr2:100106558-100107268	HepG2	liver:	n/a	n/a
9	ATF3	chr2:100106507-100106988	HepG2	liver:	n/a	n/a
10	ATF3	chr2:100106345-100106896	K562	blood:	n/a	chr2:100106504-100106513
11	ATF3	chr2:100106566-100106988	A549	lung:	n/a	n/a
12	ATF3	chr2:100106451-100106995	GM12878	blood:	n/a	chr2:100106504-100106513
13	BACH1	chr2:100106288-100107323	K562	blood:	n/a	n/a
14	BACH1	chr2:100105699-100107316	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:100103095-100103239	K562	blood:	n/a	n/a
16	BCL11A	chr2:100106507-100106931	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106688-100106701
17	BCL3	chr2:100106288-100106834	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100106688-100106701
18	BCLAF1	chr2:100106267-100107231	GM12878	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100107150-100107163 chr2:100106688-100106701
19	BCLAF1	chr2:100106213-100106927	K562	blood:	n/a	chr2:100106509-100106522 chr2:100106587-100106600 chr2:100106408-100106421 chr2:100106340-100106353 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100106346-100106355 chr2:100106688-100106701
20	BCLAF1	chr2:100106546-100107257	GM12878	blood:	n/a	chr2:100106587-100106600 chr2:100106779-100106792 chr2:100106752-100106765 chr2:100107150-100107163 chr2:100106688-100106701
21	BHLHE40	chr2:100105969-100107373	K562	blood:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
22	BHLHE40	chr2:100106520-100106893	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
23	BHLHE40	chr2:100105532-100107280	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
24	BHLHE40	chr2:100106535-100107099	A549	lung:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
25	BHLHE40	chr2:100105996-100107238	GM12878	blood:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106181-100106197 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106346-100106362 chr2:100106720-100106729 chr2:100106189-100106205
26	BHLHE40	chr2:100105004-100105678	K562	blood:	n/a	n/a
27	BHLHE40	chr2:100106446-100106948	HepG2	liver:	n/a	chr2:100106719-100106728 chr2:100106720-100106729 chr2:100106714-100106735 chr2:100106718-100106731 chr2:100106721-100106730 chr2:100106720-100106729
28	BRCA1	chr2:100106642-100107258	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr2:100106642-100106788	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr2:100106654-100107013	HepG2	liver:	n/a	n/a
31	CBX3	chr2:100106558-100107241	K562	blood:	n/a	n/a
32	CBX3	chr2:100106595-100107185	K562	blood:	n/a	n/a
33	CCNT2	chr2:100105647-100107150	K562	blood:	n/a	chr2:100106484-100106493 chr2:100106037-100106046 chr2:100106667-100106676 chr2:100106338-100106347 chr2:100106151-100106160 chr2:100106545-100106554
34	CEBPB	chr2:100106677-100107907	HepG2	liver:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
35	CEBPB	chr2:100105985-100106159	IMR90	lung:	n/a	chr2:100106054-100106067
36	CEBPB	chr2:100105924-100106131	HepG2	liver:	n/a	chr2:100106054-100106067
37	CEBPB	chr2:100105920-100106198	K562	blood:	n/a	chr2:100106054-100106067
38	CEBPB	chr2:100106813-100107879	K562	blood:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
39	CEBPB	chr2:100106712-100107908	IMR90	lung:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
40	CEBPB	chr2:100106904-100107185	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr2:100106667-100107160	K562	blood:	n/a	n/a
42	CEBPB	chr2:100106746-100107307	A549	lung:	n/a	n/a
43	CEBPB	chr2:100105858-100107896	Hela-S3	cervix:	n/a	chr2:100107729-100107738 chr2:100107729-100107738 chr2:100106054-100106067 chr2:100107729-100107738 chr2:100107727-100107740 chr2:100107727-100107738 chr2:100107727-100107740
44	CEBPB	chr2:100106902-100107093	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:100105884-100106238	HepG2	liver:	n/a	chr2:100106054-100106067
46	CEBPB	chr2:100106710-100107185	A549	lung:	n/a	n/a
47	CEBPB	chr2:100105545-100107198	HepG2	liver:	n/a	chr2:100106054-100106067
48	CEBPD	chr2:100106270-100106945	K562	blood:	n/a	n/a
49	CEBPD	chr2:100106346-100106776	HepG2	liver:	n/a	n/a
50	CEBPD	chr2:100106249-100106916	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100106285-100106335	LNCaP	prostate:	n/a
2	chr2:100106285-100106335	H1-hESC	embryonic stem cell:	embryo
3	chr2:100106285-100106335	GM06990	blood:	n/a
4	chr2:100106285-100106335	AG04449	skin:	fetal
5	chr2:100106147-100106197	ProgFib	skin:	n/a
6	chr2:100106285-100106335	HL-60	blood:	n/a
7	chr2:100106147-100106197	PrEC	prostate:	n/a
8	chr2:100106285-100106335	Hela-S3	cervix:	n/a
9	chr2:100106285-100106335	HRPEpiC	eye:	n/a
10	chr2:100105657-100105707	Caco-2	colon:	n/a
11	chr2:100106147-100106197	Hela-S3	cervix:	n/a
12	chr2:100106285-100106335	HRCEpiC	kidney:	n/a
13	chr2:100106285-100106335	HCM	heart:	n/a
14	chr2:100105657-100105707	U87	brain:	n/a
15	chr2:100105657-100105707	RPTEC	kidney:	n/a
16	chr2:100106285-100106335	NB4	blood:	n/a
17	chr2:100105657-100105707	HepG2	liver:	n/a
18	chr2:100106147-100106197	AG09309	skin:	n/a
19	chr2:100105657-100105707	CMK	blood:	n/a
20	chr2:100106285-100106335	NT2-D1	testis:	n/a
21	chr2:100106147-100106197	SK-N-MC	brain:	n/a
22	chr2:100106147-100106197	HEK293	kidney:	embryo
23	chr2:100105657-100105707	ProgFib	skin:	n/a
24	chr2:100106285-100106335	Hepatocyte	liver:	n/a
25	chr2:100106147-100106197	AG10803	skin:	n/a
26	chr2:100106147-100106197	IMR90	lung:	fetal
27	chr2:100106285-100106335	HNPCEpiC	eye:	n/a
28	chr2:100106147-100106197	MCF-7	breast:	n/a
29	chr2:100105657-100105707	PANC-1	pancreas:	n/a
30	chr2:100105657-100105707	HRPEpiC	eye:	n/a
31	chr2:100105657-100105707	HCPEpiC	choroid plexus:	n/a
32	chr2:100106285-100106335	AoSMC	blood vessel:	n/a
33	chr2:100105657-100105707	AG10803	skin:	n/a
34	chr2:100106285-100106335	SKMC	muscle:	n/a
35	chr2:100106147-100106197	HRCEpiC	kidney:	n/a
36	chr2:100106285-100106335	AG04450	lung:	fetal
37	chr2:100106147-100106197	HRE	kidney:	n/a
38	chr2:100106285-100106335	MCF10A-Er-Src	breast:	n/a
39	chr2:100105657-100105707	MCF-7	breast:	n/a
40	chr2:100106147-100106197	BJ	skin:	n/a
41	chr2:100106147-100106197	HIPEpiC	eye:	n/a
42	chr2:100106147-100106197	HUVEC	blood vessel:	n/a
43	chr2:100106147-100106197	NH-A	brain:	n/a
44	chr2:100106285-100106335	HEK293	kidney:	embryo
45	chr2:100106147-100106197	GM12892	blood:	n/a
46	chr2:100106147-100106197	HCM	heart:	n/a
47	chr2:100106147-100106197	NHDF-neo	bronchial:	n/a
48	chr2:100105657-100105707	H1-hESC	embryonic stem cell:	embryo
49	chr2:100106147-100106197	PANC-1	pancreas:	n/a
50	chr2:100105657-100105707	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
2	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
3	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
4	chr2:100011720..100013891-chr2:100102274..100104165,2	K562	blood:
5	chr2:100106074..100106604-chr6:43021248..43021884,2	Hela-S3	cervix:
6	chr2:99952415..99954577-chr2:100101593..100103318,2	MCF-7	breast:
7	chr15:76603305..76604106-chr2:100105951..100106601,2	Hela-S3	cervix:
8	chr2:100019850..100022413-chr2:100104870..100107869,3	MCF-7	breast:
9	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
10	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
11	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
12	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
13	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
14	chr2:99796371..99799059-chr2:100100777..100103682,2	MCF-7	breast:
15	chr2:100100281..100102788-chr2:100105250..100107935,2	MCF-7	breast:
16	chr2:100077312..100079751-chr2:100099970..100102811,3	K562	blood:
17	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:
18	chr2:100019781..100021613-chr2:100105810..100107711,2	MCF-7	breast:
19	chr2:100092416..100102947-chr2:100103557..100108181,19	MCF-7	breast:
20	chr2:100091037..100094858-chr2:100099869..100102767,4	K562	blood:
21	chr2:99796217..99799127-chr2:100105224..100108883,4	K562	blood:
22	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
23	chr11:63580406..63581266-chr2:100105797..100106443,2	MCF-7	breast:
24	chr2:99952384..99954745-chr2:100101155..100103970,2	K562	blood:
25	chr2:100045644..100048567-chr2:100103283..100105124,2	K562	blood:
26	chr2:99485026..99487433-chr2:100105196..100107704,3	MCF-7	breast:
27	chr2:100077312..100079121-chr2:100100989..100102811,2	K562	blood:
28	chr2:100104879..100106389-chr2:100120710..100122893,2	MCF-7	breast:
29	chr2:99796217..99798600-chr2:100104908..100107681,3	K562	blood:

Variant related genes	Relation type
REV1	TF binding region
REV1	CpG island
ENSG00000140374	chromatin interactions
ENSG00000170500	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000158411	chromatin interactions
ENSG00000185414	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000044090	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000273306	chromatin interactions
ENSG00000196872	chromatin interactions
ENSG00000241962	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535796852	chr2:100102583-100102584	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs554995487	chr2:100102604-100102605	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs189243812	chr2:100102657-100102658	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs372997350	chr2:100102685-100102686	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs552795356	chr2:100102729-100102730	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs534190496	chr2:100102731-100102732	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs554213348	chr2:100102768-100102769	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs577298496	chr2:100102777-100102778	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs7560795	chr2:100102790-100102791	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs562984963	chr2:100102848-100102849	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs576317071	chr2:100102852-100102853	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs538495098	chr2:100102914-100102915	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs1839666	chr2:100102942-100102943	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs180747300	chr2:100102977-100102978	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs527265141	chr2:100102982-100102983	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs543815382	chr2:100102990-100102991	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs60272769	chr2:100102991-100102992	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs143931385	chr2:100102998-100102999	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs36112989	chr2:100103004-100103005	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs185000737	chr2:100103070-100103071	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs564193112	chr2:100103171-100103172	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs532914543	chr2:100103257-100103258	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs535827045	chr2:100103324-100103325	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs527752389	chr2:100103347-100103348	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs569793003	chr2:100103359-100103360	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs78254852	chr2:100103380-100103381	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs532683218	chr2:100103387-100103388	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs189463633	chr2:100103415-100103416	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs147466475	chr2:100103428-100103429	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs566004538	chr2:100103465-100103466	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs375675652	chr2:100103512-100103513	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs114222077	chr2:100103513-100103514	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs553903197	chr2:100103637-100103638	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs553909018	chr2:100103643-100103644	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs572489853	chr2:100103660-100103661	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs377674533	chr2:100103713-100103714	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs577262791	chr2:100103776-100103777	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs545899891	chr2:100103781-100103782	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs139361076	chr2:100103804-100103805	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs556625814	chr2:100103981-100103982	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576180712	chr2:100103989-100103990	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs181849723	chr2:100104097-100104098	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566094023	chr2:100104100-100104101	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562010461	chr2:100104152-100104153	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143165153	chr2:100104158-100104159	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541000628	chr2:100104184-100104185	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563972955	chr2:100104237-100104238	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186968586	chr2:100104266-100104267	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115525963	chr2:100104370-100104371	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370328392	chr2:100104459-100104460	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100075200-100103000	Weak transcription	Hela-S3	cervix
2	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:100076600-100104200	Weak transcription	NHLF	lung
4	chr2:100078800-100103000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:100079200-100104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:100080400-100103200	Weak transcription	Fetal Stomach	stomach
8	chr2:100080800-100103200	Weak transcription	HSMM	muscle
9	chr2:100085600-100103000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:100091400-100103200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:100091800-100103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:100092600-100103600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:100092600-100104200	Weak transcription	Osteobl	bone
15	chr2:100092800-100103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:100092800-100104600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:100092800-100105000	Weak transcription	Placenta	Placenta
18	chr2:100094000-100103400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:100094800-100104800	Weak transcription	Colonic Mucosa	Colon
20	chr2:100095200-100103400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:100095400-100103400	Weak transcription	HUVEC	blood vessel
22	chr2:100095600-100103000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:100095600-100103400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:100095600-100103600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:100095600-100103600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:100097200-100103000	Weak transcription	NH-A	brain
27	chr2:100097200-100104000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:100097200-100104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:100097200-100105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:100097800-100103200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:100098000-100103200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:100098600-100105200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:100098600-100105200	Weak transcription	Gastric	stomach
34	chr2:100098800-100103000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:100098800-100103000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:100098800-100103000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:100098800-100103200	Weak transcription	Adipose Nuclei	Adipose
38	chr2:100098800-100103400	Weak transcription	Brain Substantia Nigra	brain
39	chr2:100098800-100103400	Weak transcription	Stomach Mucosa	stomach
40	chr2:100098800-100104800	Weak transcription	Spleen	Spleen
41	chr2:100098800-100105000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:100098800-100105200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:100099000-100103000	Weak transcription	Fetal Intestine Large	intestine
44	chr2:100099000-100103000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:100099000-100103200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:100099000-100103200	Weak transcription	Fetal Intestine Small	intestine
47	chr2:100099000-100103200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:100099000-100103200	Weak transcription	NHDF-Ad	bronchial
49	chr2:100099000-100103600	Weak transcription	Primary T cells from cord blood	blood
50	chr2:100099000-100103800	Weak transcription	H1 Cell Line	embryonic stem cell

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