Variant report

Variant	rs6973197
Chromosome Location	chr7:16637911-16637912
allele	A/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	POLR2A	chr7:16637745-16638003	K562	blood:	n/a	n/a
2	POLR2A	chr7:16636777-16638548	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16637135..16639582-chr7:16641679..16644005,2	K562	blood:

Variant related genes	Relation type
ENSG00000272361	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10247772	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10250902	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10269268	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10273896	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10274133	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10282627	0.87[ASN][1000 genomes]
rs1044984	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765150	0.85[ASN][1000 genomes]
rs11772957	0.87[ASN][1000 genomes]
rs13228317	0.99[ASN][1000 genomes]
rs13244745	0.97[ASN][1000 genomes]
rs2240434	1.00[ASN][1000 genomes]
rs2286230	0.89[ASN][1000 genomes]
rs28498382	0.90[ASN][1000 genomes]
rs6973195	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796550	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7796676	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7802116	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv887758	chr7:16632561-16668034	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16624000-16645600	Weak transcription	Gastric	stomach
2	chr7:16626000-16638000	Weak transcription	Fetal Stomach	stomach
3	chr7:16626400-16639400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:16627800-16639400	Weak transcription	Brain Germinal Matrix	brain
5	chr7:16627800-16640200	Weak transcription	Fetal Brain Female	brain
6	chr7:16627800-16640200	Weak transcription	Right Ventricle	heart
7	chr7:16627800-16654200	Weak transcription	Brain Angular Gyrus	brain
8	chr7:16628200-16639000	Weak transcription	Left Ventricle	heart
9	chr7:16628400-16639000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:16629600-16642400	Weak transcription	Fetal Brain Male	brain
11	chr7:16629800-16638800	Weak transcription	Aorta	Aorta
12	chr7:16630000-16638000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:16630400-16638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:16630400-16640600	Weak transcription	A549	lung
15	chr7:16630400-16643000	Weak transcription	HUVEC	blood vessel
16	chr7:16630600-16639400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:16630600-16640800	Weak transcription	Fetal Heart	heart
18	chr7:16630800-16638400	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:16630800-16643000	Weak transcription	Thymus	Thymus
20	chr7:16632000-16638000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:16632200-16640200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:16632400-16638200	Weak transcription	Psoas Muscle	Psoas
23	chr7:16632400-16639200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:16632600-16639400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:16632600-16643200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:16634200-16639400	Weak transcription	NH-A	brain
27	chr7:16634200-16640200	Weak transcription	NHLF	lung
28	chr7:16634200-16642400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:16634200-16649600	Weak transcription	Hela-S3	cervix
30	chr7:16634400-16638200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:16634400-16638200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:16634400-16639000	Weak transcription	Ovary	ovary
33	chr7:16634400-16639600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:16634400-16640200	Weak transcription	Pancreas	Pancrea
35	chr7:16634600-16639000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:16634600-16639600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:16634800-16639400	Weak transcription	Osteobl	bone
38	chr7:16635200-16638000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:16635200-16638000	Weak transcription	Placenta	Placenta
40	chr7:16635200-16638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:16635600-16654800	Weak transcription	Spleen	Spleen
42	chr7:16636200-16639000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:16636200-16639600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:16636200-16639600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:16636200-16649400	Weak transcription	Small Intestine	intestine
46	chr7:16636400-16638000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:16636400-16638000	Weak transcription	Fetal Intestine Small	intestine
48	chr7:16636400-16638000	Weak transcription	Lung	lung
49	chr7:16636400-16640200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:16636400-16642200	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links