Variant report

Variant	rs7799214
Chromosome Location	chr7:6047131-6047132
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	SP1	chr7:6047131-6047619	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:6046910-6047517	GM12891	blood:	n/a	n/a
3	POLR2A	chr7:6047017-6047603	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:6046915-6047355	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:6046833-6047153	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:6047020-6047501	GM12891	blood:	n/a	n/a
7	HEY1	chr7:6046915-6047502	K562	blood:	n/a	n/a
8	POLR2A	chr7:6046908-6049421	GM12892	blood:	n/a	n/a
9	POLR2A	chr7:6047093-6047604	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:6046916-6047460	GM12891	blood:	n/a	n/a
11	POLR2A	chr7:6046918-6049382	GM12892	blood:	n/a	n/a
12	POU2F2	chr7:6047121-6047516	GM12878	blood:	n/a	n/a
13	RFX5	chr7:6047056-6049418	SK-N-SH	brain:	n/a	chr7:6048851-6048860

No.	Distal block	Cell Line	Cell type
1	chr7:6041705..6045263-chr7:6045824..6048661,5	MCF-7	breast:
2	chr7:6046967..6050535-chr7:6141219..6149580,10	K562	blood:
3	chr7:6046629..6049121-chr7:6054916..6059212,5	K562	blood:
4	chr7:6047026..6051403-chr7:6141746..6146462,7	K562	blood:
5	chr7:6046534..6048837-chr7:6387102..6390061,2	MCF-7	breast:

Variant related genes	Relation type
AIMP2	TF binding region
PMS2	TF binding region
ENSG00000201990	TF binding region
ENSG00000122512	Chromatin interaction
ENSG00000201990	Chromatin interaction
ENSG00000178397	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000207217	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12702460	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12702461	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12702462	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12702463	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12702464	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12702468	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13240138	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13245536	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13311041	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1860462	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1986625	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2009115	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286680	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34197105	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3735296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779107	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59901370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6463525	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6949598	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6953340	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6964944	0.83[EUR][1000 genomes]
rs6973250	0.85[EUR][1000 genomes]
rs6974270	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71524066	0.81[EUR][1000 genomes]
rs7781199	0.85[EUR][1000 genomes]
rs7788051	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7805798	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
2	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
3	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
5	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
6	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
8	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
10	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
11	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
12	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
13	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
14	nsv830894	chr7:5889658-6072215	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
16	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
17	nsv605998	chr7:6035065-6102034	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1018388	chr7:6038713-6131169	Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
19	nsv970441	chr7:6039097-6048842	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6010400-6048000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6016200-6047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:6022600-6048000	Weak transcription	NHLF	lung
4	chr7:6025000-6048000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:6027600-6047200	Weak transcription	Fetal Kidney	kidney
6	chr7:6028000-6048000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:6029000-6048000	Weak transcription	Right Ventricle	heart
8	chr7:6034000-6047600	Weak transcription	Small Intestine	intestine
9	chr7:6035600-6047800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:6035600-6048000	Weak transcription	Fetal Heart	heart
11	chr7:6035800-6047600	Weak transcription	HSMMtube	muscle
12	chr7:6035800-6047800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:6035800-6047800	Weak transcription	NH-A	brain
14	chr7:6035800-6048000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:6035800-6048000	Weak transcription	Pancreas	Pancrea
16	chr7:6035800-6048000	Weak transcription	Psoas Muscle	Psoas
17	chr7:6036000-6047600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:6036000-6047600	Weak transcription	HMEC	breast
19	chr7:6036000-6048000	Weak transcription	Fetal Brain Male	brain
20	chr7:6037400-6047400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:6039000-6048000	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:6039200-6048000	Weak transcription	NHDF-Ad	bronchial
23	chr7:6039400-6047600	Weak transcription	Fetal Lung	lung
24	chr7:6039800-6047600	Weak transcription	HSMM	muscle
25	chr7:6039800-6048000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:6039800-6048000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:6040000-6047200	Weak transcription	Brain Angular Gyrus	brain
28	chr7:6040000-6047600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:6040000-6047600	Weak transcription	Esophagus	oesophagus
30	chr7:6040000-6047600	Weak transcription	Lung	lung
31	chr7:6040000-6047800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:6040000-6048000	Weak transcription	Aorta	Aorta
33	chr7:6040000-6048000	Weak transcription	Colonic Mucosa	Colon
34	chr7:6040000-6048000	Weak transcription	Left Ventricle	heart
35	chr7:6040000-6048000	Weak transcription	Osteobl	bone
36	chr7:6040200-6047600	Weak transcription	Fetal Brain Female	brain
37	chr7:6040400-6047800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:6040600-6047600	Weak transcription	Gastric	stomach
39	chr7:6040600-6047600	Weak transcription	Thymus	Thymus
40	chr7:6040600-6048200	Weak transcription	Spleen	Spleen
41	chr7:6041000-6047200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:6041600-6048200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:6041800-6047800	Weak transcription	HUVEC	blood vessel
44	chr7:6041800-6048000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:6042000-6047800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:6042400-6047200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:6042400-6047200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:6042400-6047600	Weak transcription	Brain Germinal Matrix	brain
49	chr7:6042400-6048000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:6042800-6047200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links