Variant report

Variant	rs3102868
Chromosome Location	chr8:95553276-95553277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95550807..95553356-chr8:95553609..95557228,3	K562	blood:
2	chr8:95546560..95549138-chr8:95553073..95555692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164944	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11991172	0.87[AFR][1000 genomes]
rs3096602	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3098713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098720	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098726	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3099402	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3099408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3099409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3099411	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3099415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099416	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099421	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3099423	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3099424	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102843	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102849	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3102858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3102863	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102869	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3102870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3102871	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102876	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133597	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3133598	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3133599	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3133606	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133607	0.81[EUR][1000 genomes]
rs3133612	0.83[EUR][1000 genomes]
rs3133638	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133642	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133643	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133644	0.98[ASN][1000 genomes]
rs3133647	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133653	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133661	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34432191	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36040483	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
4	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:95532800-95558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:95535400-95556000	Weak transcription	Fetal Heart	heart
7	chr8:95535800-95555600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:95536000-95555600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:95536600-95557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:95536800-95556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:95537000-95553400	Strong transcription	Liver	Liver
12	chr8:95537000-95557400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:95537000-95558600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:95537200-95554800	Strong transcription	Fetal Intestine Large	intestine
15	chr8:95541600-95563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:95541600-95563800	Weak transcription	Stomach Mucosa	stomach
17	chr8:95542400-95554200	Weak transcription	NHEK	skin
18	chr8:95543200-95563200	Weak transcription	Fetal Brain Male	brain
19	chr8:95543200-95564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:95543200-95564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:95543600-95558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:95543600-95564000	Weak transcription	HSMMtube	muscle
23	chr8:95544400-95554000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:95544400-95558000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:95545200-95564000	Weak transcription	Psoas Muscle	Psoas
26	chr8:95546200-95555200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:95546200-95564800	Weak transcription	Esophagus	oesophagus
28	chr8:95546400-95554200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:95546400-95564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:95546400-95564000	Weak transcription	Aorta	Aorta
31	chr8:95546600-95563600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:95546800-95558400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:95546800-95563600	Weak transcription	Brain Angular Gyrus	brain
34	chr8:95547000-95554000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:95547000-95563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:95547000-95564000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:95547000-95565000	Weak transcription	Pancreas	Pancrea
38	chr8:95547200-95563200	Weak transcription	Gastric	stomach
39	chr8:95547400-95563200	Weak transcription	Brain Substantia Nigra	brain
40	chr8:95547400-95563600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:95547600-95554200	Weak transcription	K562	blood
42	chr8:95548000-95563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:95548400-95563800	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:95548400-95563800	Weak transcription	Small Intestine	intestine
45	chr8:95548800-95564000	Weak transcription	Colonic Mucosa	Colon
46	chr8:95549000-95554200	Weak transcription	HMEC	breast
47	chr8:95549000-95558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:95549000-95563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:95549000-95563800	Weak transcription	HUVEC	blood vessel
50	chr8:95549000-95564000	Weak transcription	Brain Cingulate Gyrus	brain

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