Variant report

Variant	rs3102843
Chromosome Location	chr8:95516667-95516668
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	chr8:95484689..95488036-chr8:95515578..95521177,5	K562	blood:
2	chr8:95474585..95476608-chr8:95515211..95517338,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs3096602	0.88[EUR][1000 genomes]
rs3098713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3098717	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098723	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099402	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3099408	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3099409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099415	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099416	0.88[EUR][1000 genomes]
rs3099417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099419	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3099421	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3099423	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3099424	0.93[EUR][1000 genomes]
rs3102844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3102849	0.93[EUR][1000 genomes]
rs3102858	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102863	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102864	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102866	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102868	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102870	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3102871	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102872	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102873	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3102876	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133597	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133598	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3133599	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3133606	0.88[EUR][1000 genomes]
rs3133607	0.81[EUR][1000 genomes]
rs3133612	0.83[EUR][1000 genomes]
rs3133638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133642	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133643	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133644	0.96[ASN][1000 genomes]
rs3133647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133650	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133652	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133653	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3133661	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34432191	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36040483	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95499200-95519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:95499200-95519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:95499400-95519000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:95499400-95519000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
11	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:95500200-95519000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:95500400-95524600	Weak transcription	Stomach Mucosa	stomach
14	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:95502600-95516800	Weak transcription	Fetal Heart	heart
16	chr8:95502600-95517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:95502600-95517200	Weak transcription	Small Intestine	intestine
18	chr8:95503400-95517200	Weak transcription	Spleen	Spleen
19	chr8:95504000-95521800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:95504000-95522000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:95504400-95523400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:95505000-95517200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:95505400-95517200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:95505600-95521600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:95506000-95522000	Weak transcription	HMEC	breast
26	chr8:95508200-95517400	Weak transcription	Psoas Muscle	Psoas
27	chr8:95508600-95518200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:95508800-95522600	Weak transcription	Brain Substantia Nigra	brain
29	chr8:95509000-95516800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:95509000-95522000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:95509400-95516800	Weak transcription	NHLF	lung
32	chr8:95509600-95522000	Weak transcription	NHEK	skin
33	chr8:95511000-95517000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:95511000-95527400	Weak transcription	Pancreas	Pancrea
35	chr8:95511200-95527400	Weak transcription	Gastric	stomach
36	chr8:95511200-95530600	Weak transcription	Aorta	Aorta
37	chr8:95511600-95522600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:95511800-95516800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:95511800-95516800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:95511800-95517000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:95511800-95517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:95511800-95517000	Weak transcription	Colonic Mucosa	Colon
43	chr8:95511800-95521200	Weak transcription	HepG2	liver
44	chr8:95512000-95517000	Weak transcription	Brain Angular Gyrus	brain
45	chr8:95512000-95518200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:95512200-95516800	Weak transcription	Fetal Brain Female	brain
47	chr8:95512200-95517000	Weak transcription	Fetal Lung	lung
48	chr8:95512200-95517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:95512200-95522000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:95512600-95524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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