Variant report

Variant	rs8008091
Chromosome Location	chr14:105938882-105938883
allele	C/G
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	TCF12	chr14:105938726-105943563	ECC-1	luminal epithelium:	n/a	chr14:105941927-105941934 chr14:105939214-105939224 chr14:105942821-105942831 chr14:105939312-105939322 chr14:105939170-105939177
2	RFX5	chr14:105938460-105941395	SK-N-SH	brain:	n/a	chr14:105940645-105940662 chr14:105940883-105940898 chr14:105940647-105940656 chr14:105941097-105941106 chr14:105940883-105940896 chr14:105940646-105940661 chr14:105940883-105940898 chr14:105940883-105940898 chr14:105940644-105940658 chr14:105940646-105940661 chr14:105940646-105940661 chr14:105940643-105940658
3	POLR2A	chr14:105938866-105939262	Gliobla	brain:	n/a	n/a
4	POLR2A	chr14:105938051-105939650	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr14:105938864-105939637	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr14:105938857-105941301	T-47D	breast:	n/a	chr14:105940739-105940755 chr14:105939175-105939188
7	POLR2A	chr14:105937180-105939235	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr14:105938422-105943754	SK-N-SH	brain:	n/a	chr14:105940882-105940897 chr14:105940645-105940660 chr14:105940647-105940662 chr14:105939313-105939322
9	MAX	chr14:105938712-105939448	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr14:105938683-105938890	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr14:105938301-105939216	A549	lung:	n/a	chr14:105938365-105938374
12	EP300	chr14:105938638-105943522	ECC-1	luminal epithelium:	n/a	chr14:105942811-105942827 chr14:105942980-105942996 chr14:105940739-105940755 chr14:105939175-105939188 chr14:105941459-105941475 chr14:105941301-105941317 chr14:105941305-105941321 chr14:105943455-105943471
13	POLR2A	chr14:105938044-105940919	SK-N-MC	brain:	n/a	n/a
14	NFIC	chr14:105938527-105940925	ECC-1	luminal epithelium:	n/a	chr14:105939474-105939490
15	POLR2A	chr14:105938705-105938959	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr14:105938820-105938970	MCF-7	breast:	n/a	n/a
17	RAD21	chr14:105938834-105939419	ECC-1	luminal epithelium:	n/a	chr14:105938894-105938907 chr14:105939076-105939086
18	POLR2A	chr14:105938846-105938951	ProgFib	skin:	n/a	n/a
19	POLR2A	chr14:105938607-105939277	A549	lung:	n/a	n/a
20	GATA3	chr14:105938583-105940894	MCF-7	breast:	n/a	chr14:105939905-105939912
21	NR2F2	chr14:105938108-105942125	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:105938645-105939124	A549	lung:	n/a	n/a
23	ZBTB7A	chr14:105938717-105943915	ECC-1	luminal epithelium:	n/a	chr14:105940404-105940411
24	POLR2A	chr14:105938577-105940786	MCF-7	breast:	n/a	n/a
25	HDAC2	chr14:105938321-105942283	MCF-7	breast:	n/a	n/a
26	POLR2A	chr14:105938086-105939002	U87	brain:	n/a	n/a
27	NFIC	chr14:105938571-105940810	ECC-1	luminal epithelium:	n/a	chr14:105939474-105939490
28	POLR2A	chr14:105938723-105939342	ECC-1	luminal epithelium:	n/a	n/a
29	ZBTB7A	chr14:105938553-105943953	ECC-1	luminal epithelium:	n/a	chr14:105940404-105940411
30	GATA3	chr14:105938695-105940798	MCF-7	breast:	n/a	chr14:105939905-105939912
31	TCF12	chr14:105938673-105940846	ECC-1	luminal epithelium:	n/a	chr14:105939214-105939224 chr14:105939312-105939322 chr14:105939170-105939177
32	POLR2A	chr14:105938850-105939054	A549	lung:	n/a	n/a
33	MAX	chr14:105938062-105942231	MCF-7	breast:	n/a	chr14:105941865-105941875 chr14:105941466-105941476 chr14:105941170-105941180 chr14:105940888-105940897 chr14:105940884-105940893 chr14:105942098-105942108 chr14:105940647-105940656

No.	Distal block	Cell Line	Cell type
1	chr14:105936571..105939386-chr20:49347941..49350201,2	MCF-7	breast:
2	chr14:105766164..105768024-chr14:105938486..105941026,2	MCF-7	breast:
3	chr14:105932887..105936381-chr14:105936498..105941811,9	K562	blood:
4	chr14:105914892..105915597-chr14:105938651..105939550,2	MCF-7	breast:
5	chr14:105884288..105888783-chr14:105938542..105943341,7	MCF-7	breast:
6	chr14:105861825..105867195-chr14:105938738..105943218,7	MCF-7	breast:
7	chr14:105932887..105936301-chr14:105938712..105941811,4	K562	blood:
8	chr14:105938840..105941585-chr14:105992777..105995676,2	MCF-7	breast:
9	chr14:105938691..105941427-chr17:41464183..41466300,2	MCF-7	breast:
10	chr14:105884903..105887954-chr14:105938531..105942020,5	MCF-7	breast:
11	chr14:105936567..105939705-chr14:105994343..105996511,3	MCF-7	breast:
12	chr14:105936257..105939120-chr14:105942234..105944097,2	K562	blood:

Variant related genes	Relation type
ENSG00000257270	TF binding region
CRIP2	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000256498	Chromatin interaction
ENSG00000124171	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10150915	1.00[AMR][1000 genomes]
rs12590846	0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983409	1.00[AMR][1000 genomes]
rs4983415	1.00[AMR][1000 genomes]
rs58622351	1.00[AMR][1000 genomes]
rs8008685	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897800-105940000	Weak transcription	K562	blood
4	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
5	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
7	chr14:105927200-105939800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:105929200-105940000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:105931000-105939800	Weak transcription	Primary B cells from cord blood	blood
10	chr14:105931200-105939800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:105931600-105939200	Weak transcription	Brain Substantia Nigra	brain
12	chr14:105932000-105939200	Weak transcription	HepG2	liver
13	chr14:105932200-105940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:105932400-105939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:105932400-105940200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:105932600-105939000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:105932600-105939800	Weak transcription	NH-A	brain
18	chr14:105933400-105939800	Enhancers	Left Ventricle	heart
19	chr14:105933800-105939200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:105933800-105940200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:105934200-105939800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:105934200-105939800	Weak transcription	GM12878-XiMat	blood
23	chr14:105934800-105939200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:105935000-105939400	Weak transcription	Osteobl	bone
25	chr14:105935000-105939800	Enhancers	Fetal Lung	lung
26	chr14:105935200-105939600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:105935400-105939800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:105935400-105939800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:105935800-105939800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:105936000-105939800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:105936000-105939800	Weak transcription	NHEK	skin
32	chr14:105936400-105939000	Weak transcription	Primary T cells from cord blood	blood
33	chr14:105936400-105939400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:105936400-105939800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:105936400-105939800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:105936400-105939800	Weak transcription	HUVEC	blood vessel
37	chr14:105936600-105939000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:105936600-105939800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:105936600-105940000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:105936600-105940000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:105936800-105939800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:105936800-105939800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:105936800-105939800	Enhancers	A549	lung
44	chr14:105936800-105940600	Enhancers	Fetal Brain Male	brain
45	chr14:105937000-105939000	Genic enhancers	Fetal Intestine Small	intestine
46	chr14:105937200-105939200	Weak transcription	Fetal Thymus	thymus
47	chr14:105937200-105939800	Weak transcription	Ovary	ovary
48	chr14:105937200-105940200	Enhancers	Brain Angular Gyrus	brain
49	chr14:105937200-105940200	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:105937400-105939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links