Variant report

Variant	rs58219314
Chromosome Location	chr14:105939131-105939132
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	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	ESR1	chr14:105938964-105939562	ECC-1	luminal epithelium:	n/a	n/a
5	TEAD4	chr14:105938948-105939779	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr14:105939009-105939157	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:105939045-105939199	MCF-7	breast:	n/a	n/a
8	POLR2A	chr14:105938051-105939650	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr14:105939063-105939212	A549	lung:	n/a	n/a
10	ESR1	chr14:105938864-105939637	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr14:105939103-105939207	ProgFib	skin:	n/a	n/a
12	EP300	chr14:105938857-105941301	T-47D	breast:	n/a	chr14:105940739-105940755 chr14:105939175-105939188
13	RCOR1	chr14:105939001-105939501	Hela-S3	cervix:	n/a	n/a
14	EP300	chr14:105938946-105940850	T-47D	breast:	n/a	chr14:105940739-105940755 chr14:105939175-105939188
15	POLR2A	chr14:105937180-105939235	Hela-S3	cervix:	n/a	n/a
16	NR3C1	chr14:105939030-105939329	ECC-1	luminal epithelium:	n/a	n/a
17	MXI1	chr14:105938422-105943754	SK-N-SH	brain:	n/a	chr14:105940882-105940897 chr14:105940645-105940660 chr14:105940647-105940662 chr14:105939313-105939322
18	MAX	chr14:105938712-105939448	ECC-1	luminal epithelium:	n/a	n/a
19	BCL3	chr14:105938301-105939216	A549	lung:	n/a	chr14:105938365-105938374
20	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
21	POLR2A	chr14:105939105-105939262	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:105938044-105940919	SK-N-MC	brain:	n/a	n/a
23	NFIC	chr14:105938527-105940925	ECC-1	luminal epithelium:	n/a	chr14:105939474-105939490
24	TFAP2A	chr14:105939034-105939517	Hela-S3	cervix:	n/a	chr14:105939426-105939436 chr14:105939426-105939436 chr14:105939426-105939436 chr14:105939426-105939436
25	SRF	chr14:105938918-105939800	ECC-1	luminal epithelium:	n/a	n/a
26	FOXA1	chr14:105939025-105939295	T-47D	breast:	n/a	n/a
27	CTCF	chr14:105939040-105939190	Hela-S3	cervix:	n/a	chr14:105939166-105939179
28	ESR1	chr14:105938945-105939305	ECC-1	luminal epithelium:	n/a	n/a
29	MYC	chr14:105939120-105939246	MCF-7	breast:	n/a	n/a
30	NR2F2	chr14:105938900-105940864	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:105939025-105939174	MCF-7	breast:	n/a	n/a
32	MXI1	chr14:105938989-105939287	Hela-S3	cervix:	n/a	n/a
33	SRF	chr14:105938884-105939813	ECC-1	luminal epithelium:	n/a	n/a
34	RFX5	chr14:105939096-105939200	Hela-S3	cervix:	n/a	n/a
35	MAX	chr14:105938893-105940883	MCF-7	breast:	n/a	chr14:105940647-105940656
36	MAZ	chr14:105938955-105939559	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr14:105939058-105939212	MCF-7	breast:	n/a	chr14:105939166-105939179
38	RAD21	chr14:105938834-105939419	ECC-1	luminal epithelium:	n/a	chr14:105938894-105938907 chr14:105939076-105939086
39	TEAD4	chr14:105938897-105939831	ECC-1	luminal epithelium:	n/a	n/a
40	EP300	chr14:105938926-105939722	ECC-1	luminal epithelium:	n/a	chr14:105939175-105939188
41	POLR2A	chr14:105938607-105939277	A549	lung:	n/a	n/a
42	GATA3	chr14:105938583-105940894	MCF-7	breast:	n/a	chr14:105939905-105939912
43	MAX	chr14:105938988-105939531	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr14:105939116-105939261	Hela-S3	cervix:	n/a	n/a
45	NR2F2	chr14:105938108-105942125	MCF-7	breast:	n/a	n/a
46	ZBTB7A	chr14:105938717-105943915	ECC-1	luminal epithelium:	n/a	chr14:105940404-105940411
47	POLR2A	chr14:105938577-105940786	MCF-7	breast:	n/a	n/a
48	POLR2A	chr14:105938954-105939184	HepG2	liver:	n/a	n/a
49	HDAC2	chr14:105938321-105942283	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:105939060-105939165	LNCaP	prostate:	n/a	n/a

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:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10143851	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128308	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845995	0.81[EUR][1000 genomes]
rs4983416	0.86[EUR][1000 genomes]
rs56013805	1.00[ASN][1000 genomes]
rs58324264	1.00[ASN][1000 genomes]
rs60370249	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60837482	1.00[ASN][1000 genomes]
rs7141736	1.00[ASN][1000 genomes]
rs7145303	0.81[EUR][1000 genomes]
rs74092397	0.90[EUR][1000 genomes];1.00[ASN][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	chr14:105932600-105939800	Weak transcription	NH-A	brain
17	chr14:105933400-105939800	Enhancers	Left Ventricle	heart
18	chr14:105933800-105939200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:105933800-105940200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:105934200-105939800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:105934200-105939800	Weak transcription	GM12878-XiMat	blood
22	chr14:105934800-105939200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:105935000-105939400	Weak transcription	Osteobl	bone
24	chr14:105935000-105939800	Enhancers	Fetal Lung	lung
25	chr14:105935200-105939600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:105935400-105939800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:105935400-105939800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:105935800-105939800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:105936000-105939800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:105936000-105939800	Weak transcription	NHEK	skin
31	chr14:105936400-105939400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:105936400-105939800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:105936400-105939800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:105936400-105939800	Weak transcription	HUVEC	blood vessel
35	chr14:105936600-105939800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:105936600-105940000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:105936600-105940000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:105936800-105939800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:105936800-105939800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:105936800-105939800	Enhancers	A549	lung
41	chr14:105936800-105940600	Enhancers	Fetal Brain Male	brain
42	chr14:105937200-105939200	Weak transcription	Fetal Thymus	thymus
43	chr14:105937200-105939800	Weak transcription	Ovary	ovary
44	chr14:105937200-105940200	Enhancers	Brain Angular Gyrus	brain
45	chr14:105937200-105940200	Enhancers	Brain Cingulate Gyrus	brain
46	chr14:105937400-105939200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:105937400-105939200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:105937400-105939200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr14:105937400-105939400	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:105937400-105939800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links