Variant report

Variant	rs2631241
Chromosome Location	chr4:102898616-102898617
allele	C/T
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	EP300	chr4:102898077-102898814	ECC-1	luminal epithelium:	n/a	n/a
2	GTF2F1	chr4:102898136-102898629	Hela-S3	cervix:	n/a	n/a
3	SP1	chr4:102898050-102898801	A549	lung:	n/a	chr4:102898697-102898718
4	FOSL1	chr4:102898072-102898703	HCT-116	colon:	n/a	n/a
5	FOSL2	chr4:102898171-102898630	A549	lung:	n/a	n/a
6	MAX	chr4:102898315-102898617	A549	lung:	n/a	n/a
7	JUND	chr4:102898248-102898745	A549	lung:	n/a	n/a
8	TCF12	chr4:102898145-102898713	ECC-1	luminal epithelium:	n/a	n/a
9	PBX3	chr4:102898080-102898741	SK-N-SH	brain:	n/a	n/a
10	EP300	chr4:102898168-102898745	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr4:102897789-102898772	Hela-S3	cervix:	n/a	n/a
12	SMC3	chr4:102898231-102898628	Hela-S3	cervix:	n/a	n/a
13	SP1	chr4:102898059-102898786	HCT-116	colon:	n/a	chr4:102898697-102898718
14	MYC	chr4:102898115-102898881	A549	lung:	n/a	n/a
15	FOSL2	chr4:102898171-102898688	SK-N-SH	brain:	n/a	n/a
16	CEBPB	chr4:102898157-102898779	HCT-116	colon:	n/a	n/a
17	TCF12	chr4:102898038-102898913	A549	lung:	n/a	n/a
18	FOSL2	chr4:102898001-102899075	SK-N-SH	brain:	n/a	chr4:102899021-102899029 chr4:102898907-102898917 chr4:102898907-102898917 chr4:102898908-102898917 chr4:102898907-102898917 chr4:102898907-102898917
19	TCF12	chr4:102897888-102899039	SK-N-SH	brain:	n/a	n/a
20	MAZ	chr4:102898191-102898692	Hela-S3	cervix:	n/a	n/a
21	MAX	chr4:102898080-102898857	A549	lung:	n/a	n/a
22	CEBPB	chr4:102898018-102898966	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr4:102898149-102898781	Hela-S3	cervix:	n/a	n/a
24	STAT3	chr4:102898231-102898967	MCF10A-Er-Src	breast:	n/a	chr4:102898763-102898770 chr4:102898908-102898917
25	FOSL1	chr4:102898127-102898750	HCT-116	colon:	n/a	n/a
26	MAX	chr4:102898071-102898783	HCT-116	colon:	n/a	n/a
27	JUN	chr4:102898204-102898716	Hela-S3	cervix:	n/a	n/a
28	TEAD4	chr4:102898118-102898730	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr4:102898139-102898649	SK-N-SH	brain:	n/a	n/a
30	EP300	chr4:102898072-102898925	A549	lung:	n/a	chr4:102898907-102898916
31	EP300	chr4:102897997-102898903	A549	lung:	n/a	n/a
32	POLR2A	chr4:102898145-102898628	HUVEC	blood vessel:	n/a	n/a
33	EP300	chr4:102898296-102898705	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr4:102898187-102898780	A549	lung:	n/a	n/a
35	SP1	chr4:102898104-102898892	A549	lung:	n/a	chr4:102898697-102898718
36	SRF	chr4:102898139-102898826	HCT-116	colon:	n/a	n/a
37	JUND	chr4:102898175-102898653	A549	lung:	n/a	n/a
38	STAT3	chr4:102898106-102898656	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr4:102898127-102898893	MCF10A-Er-Src	breast:	n/a	n/a
40	CBX3	chr4:102898123-102898750	HCT-116	colon:	n/a	n/a
41	SIN3AK20	chr4:102898172-102898762	HCT-116	colon:	n/a	n/a
42	MYC	chr4:102898229-102898654	MCF10A-Er-Src	breast:	n/a	n/a
43	PBX3	chr4:102897996-102898821	SK-N-SH	brain:	n/a	n/a
44	TCF7L2	chr4:102898307-102898766	Hela-S3	cervix:	n/a	n/a
45	NR3C1	chr4:102898198-102898676	A549	lung:	n/a	n/a
46	RAD21	chr4:102898134-102898763	HCT-116	colon:	n/a	n/a
47	USF2	chr4:102898284-102898673	Hela-S3	cervix:	n/a	chr4:102898474-102898485
48	RAD21	chr4:102898115-102898647	A549	lung:	n/a	n/a
49	FOS	chr4:102898211-102898684	MCF10A-Er-Src	breast:	n/a	chr4:102898433-102898444
50	JUND	chr4:102898029-102898736	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
BANK1	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10516484	0.83[ASN][1000 genomes]
rs12503000	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12509274	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13106011	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13107723	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13109260	0.85[ASN][1000 genomes]
rs13111489	0.85[ASN][1000 genomes]
rs13112324	0.83[JPT][hapmap]
rs13120877	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13128847	0.81[ASN][1000 genomes]
rs13135361	0.85[ASN][1000 genomes]
rs13137047	0.85[ASN][1000 genomes]
rs1345568	0.82[ASN][1000 genomes]
rs1421624	0.82[ASN][1000 genomes]
rs17031771	0.85[ASN][1000 genomes]
rs17031789	0.85[ASN][1000 genomes]
rs17031810	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2544574	0.85[ASN][1000 genomes]
rs2631243	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631258	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2631272	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850376	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850381	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850385	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850386	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851316	0.85[ASN][1000 genomes]
rs2851326	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34397140	0.81[ASN][1000 genomes]
rs35013900	0.85[ASN][1000 genomes]
rs35190155	1.00[AFR][1000 genomes]
rs35418410	0.85[ASN][1000 genomes]
rs35507621	0.85[ASN][1000 genomes]
rs36005813	0.83[ASN][1000 genomes]
rs4635818	0.85[ASN][1000 genomes]
rs62321737	0.85[ASN][1000 genomes]
rs62321738	0.85[ASN][1000 genomes]
rs62322688	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62322690	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62322693	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71597114	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2757074	chr4:102772861-102933949	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv879682	chr4:102859835-103088491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102894000-102905200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:102894200-102900600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr4:102896600-102898800	Strong transcription	Primary B cells from cord blood	blood
4	chr4:102896600-102899200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:102896600-102899800	Enhancers	Hela-S3	cervix
6	chr4:102897200-102899200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:102897600-102899000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:102897600-102899200	Enhancers	HUVEC	blood vessel
9	chr4:102897800-102898800	Enhancers	HSMM	muscle
10	chr4:102897800-102899000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:102897800-102899000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:102897800-102899000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:102897800-102899000	Enhancers	NH-A	brain
14	chr4:102897800-102899000	Enhancers	NHEK	skin
15	chr4:102897800-102899000	Enhancers	Osteobl	bone
16	chr4:102898000-102898800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:102898000-102898800	Enhancers	HMEC	breast
18	chr4:102898000-102898800	Enhancers	NHDF-Ad	bronchial
19	chr4:102898200-102898800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:102898200-102898800	Enhancers	HSMMtube	muscle
21	chr4:102898600-102898800	Flanking Active TSS	A549	lung
22	chr4:102898600-102899800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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