Variant report

Variant	rs6988635
Chromosome Location	chr8:95744466-95744467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95730499..95733547-chr8:95740838..95746370,5	MCF-7	breast:
2	chr8:95735791..95737521-chr8:95742449..95744950,2	K562	blood:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1046163	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10956925	0.91[JPT][hapmap]
rs11785	0.86[JPT][hapmap]
rs12543234	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12543514	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12545296	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs12546282	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12675372	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12677519	0.91[JPT][hapmap]
rs12678311	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1365203	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1365205	0.91[JPT][hapmap]
rs1549466	0.91[JPT][hapmap]
rs15710	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs15726	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2033074	0.91[JPT][hapmap]
rs2068005	0.91[JPT][hapmap]
rs2241505	0.91[JPT][hapmap]
rs2288260	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2303453	0.81[JPT][hapmap]
rs2554396	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2554397	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2722874	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2722876	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2722883	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2722884	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3864655	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4008177	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4348461	0.91[JPT][hapmap]
rs4639480	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6471457	0.91[JPT][hapmap]
rs6471460	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6471464	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6471468	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6471471	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7010722	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7017996	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7387164	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7388010	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7461991	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7812489	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7813657	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7814238	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7814803	0.91[JPT][hapmap]
rs7816188	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7816645	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7823050	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7824332	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7829467	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7832771	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7833363	0.86[JPT][hapmap]
rs7840284	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7842246	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7842400	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7842716	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9643347	0.82[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95732800-95761400	Weak transcription	Spleen	Spleen
2	chr8:95732800-95780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:95733000-95744600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95733000-95747600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:95733000-95761600	Weak transcription	Aorta	Aorta
6	chr8:95733000-95784400	Weak transcription	Esophagus	oesophagus
7	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
8	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
9	chr8:95733200-95744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:95733200-95752000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:95733200-95774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:95733400-95752000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:95733400-95783800	Weak transcription	Gastric	stomach
15	chr8:95733400-95784800	Weak transcription	Small Intestine	intestine
16	chr8:95733600-95751800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:95733600-95753400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:95733600-95760200	Weak transcription	Thymus	Thymus
19	chr8:95733600-95779400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:95733600-95782600	Weak transcription	Brain Substantia Nigra	brain
21	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:95733800-95751800	Weak transcription	NHEK	skin
23	chr8:95733800-95770400	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:95733800-95783600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
26	chr8:95734000-95751400	Weak transcription	NHDF-Ad	bronchial
27	chr8:95734000-95751800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:95734000-95751800	Weak transcription	A549	lung
29	chr8:95734000-95761400	Weak transcription	HUVEC	blood vessel
30	chr8:95734000-95761600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:95734000-95783600	Weak transcription	Fetal Kidney	kidney
32	chr8:95734200-95752000	Weak transcription	NH-A	brain
33	chr8:95734200-95784600	Weak transcription	Brain Angular Gyrus	brain
34	chr8:95735400-95787800	Weak transcription	Hela-S3	cervix
35	chr8:95737600-95746400	Weak transcription	Fetal Heart	heart
36	chr8:95737800-95777800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:95738000-95745200	Strong transcription	Dnd41	blood
38	chr8:95738400-95745600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:95738400-95747200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:95738600-95745200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:95738600-95746600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:95738800-95745400	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:95738800-95745800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:95739000-95745400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:95739200-95745800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:95739200-95746800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:95739200-95747200	Strong transcription	Fetal Intestine Large	intestine
48	chr8:95739400-95746600	Strong transcription	Fetal Stomach	stomach
49	chr8:95739600-95744600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:95740200-95746600	Strong transcription	Fetal Intestine Small	intestine

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