Variant report

Variant	rs6943457
Chromosome Location	chr7:96789492-96789493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:96784450..96786338-chr7:96788596..96790706,2	K562	blood:
2	chr7:96784422..96785964-chr7:96788597..96790246,2	K562	blood:
3	chr7:96779781..96781668-chr7:96787687..96790024,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1014341	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10229181	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10231916	0.83[ASN][1000 genomes]
rs10233801	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10235199	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10252102	0.81[ASN][1000 genomes]
rs10260298	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10274547	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10275135	0.83[ASN][1000 genomes]
rs10281783	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11972232	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1199289	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1199290	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1199291	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1199292	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056091	0.81[ASN][1000 genomes]
rs12669915	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12671362	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13475	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1534370	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1880732	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1917941	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2140954	0.80[ASN][1000 genomes]
rs28646010	0.81[ASN][1000 genomes]
rs28825121	0.83[ASN][1000 genomes]
rs34159711	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4729330	0.80[ASN][1000 genomes]
rs62499473	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465571	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961807	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6963921	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973369	0.82[ASN][1000 genomes]
rs73233819	0.80[ASN][1000 genomes]
rs7794886	0.82[ASN][1000 genomes]
rs7803945	0.81[ASN][1000 genomes]
rs7810432	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7811797	0.82[ASN][1000 genomes]
rs9656043	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019725	chr7:96749866-96850819	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539029	chr7:96749866-96850819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:96768800-96790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:96768800-96797800	Weak transcription	Left Ventricle	heart
4	chr7:96769000-96790000	Weak transcription	Ovary	ovary
5	chr7:96769000-96799600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:96769000-96811600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:96769200-96789800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:96769200-96791200	Weak transcription	Fetal Kidney	kidney
9	chr7:96769400-96793400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:96771400-96818200	Weak transcription	A549	lung
11	chr7:96778600-96792600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:96780000-96790800	Weak transcription	Fetal Brain Male	brain
13	chr7:96783600-96797000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:96785600-96790000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:96785600-96796800	Weak transcription	HepG2	liver
16	chr7:96786400-96790400	Strong transcription	Primary hematopoietic stem cells	blood
17	chr7:96787000-96795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:96787400-96797600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:96787600-96796200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:96787600-96796600	Weak transcription	Esophagus	oesophagus
21	chr7:96788000-96791400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:96788200-96791200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr7:96788200-96791200	Weak transcription	Small Intestine	intestine
24	chr7:96788400-96789600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:96788400-96790800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr7:96788400-96791200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr7:96788600-96790600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr7:96788600-96790600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:96788600-96790600	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr7:96788600-96790600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:96788600-96790600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:96788600-96791200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr7:96788600-96791200	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:96788800-96791000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:96789000-96789600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr7:96789000-96789600	ZNF genes & repeats	Aorta	Aorta
37	chr7:96789000-96790400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:96789000-96790600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:96789000-96792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:96789200-96789600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:96789200-96789600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:96789200-96789600	ZNF genes & repeats	Lung	lung
43	chr7:96789200-96789600	ZNF genes & repeats	Thymus	Thymus
44	chr7:96789200-96790000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:96789200-96790200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:96789200-96791200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr7:96789400-96789800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:96789400-96790200	Weak transcription	K562	blood
49	chr7:96789400-96790400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:96789400-96790800	Strong transcription	Primary B cells from cord blood	blood

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