Variant report

Variant	rs1190812
Chromosome Location	chr6:131521830-131521831
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	JUND	chr6:131521580-131521877	HepG2	liver:	n/a	chr6:131521725-131521734 chr6:131521725-131521735 chr6:131521724-131521736 chr6:131521724-131521735 chr6:131521726-131521735

Variant related genes	Relation type
AKAP7	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10484763	0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11154622	1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs11759793	0.81[EUR][1000 genomes]
rs1190788	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1190794	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1190796	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1190799	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1190800	0.97[EUR][1000 genomes]
rs1190801	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1190802	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190805	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1190806	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1190809	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1190810	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961577	0.81[EUR][1000 genomes]
rs1209159	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs12526166	0.87[ASN][1000 genomes]
rs12660246	0.87[ASN][1000 genomes]
rs12664060	0.86[ASN][1000 genomes]
rs13200165	1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs13206776	0.85[YRI][hapmap]
rs1322596	0.86[ASN][1000 genomes]
rs17060099	0.88[ASN][1000 genomes]
rs17060119	0.87[ASN][1000 genomes]
rs17060127	0.84[ASN][1000 genomes]
rs1729549	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1729558	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1746469	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1746470	0.95[EUR][1000 genomes]
rs1746471	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1746473	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1746474	0.95[EUR][1000 genomes]
rs1885641	0.81[EUR][1000 genomes]
rs2224637	0.80[ASN][1000 genomes]
rs2327102	0.80[EUR][1000 genomes]
rs28360555	0.82[EUR][1000 genomes]
rs34326915	0.81[EUR][1000 genomes]
rs34601891	0.80[EUR][1000 genomes]
rs35561719	0.80[EUR][1000 genomes]
rs3756773	0.82[ASN][1000 genomes]
rs3777469	0.88[ASN][1000 genomes]
rs3777470	0.88[ASN][1000 genomes]
rs3777471	0.88[ASN][1000 genomes]
rs3777473	0.86[ASN][1000 genomes]
rs3777474	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777476	0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs3777477	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777479	0.84[ASN][1000 genomes]
rs3777481	0.83[ASN][1000 genomes]
rs3777482	0.80[ASN][1000 genomes]
rs3777484	0.80[ASN][1000 genomes]
rs3777496	0.80[ASN][1000 genomes]
rs3850239	0.81[EUR][1000 genomes]
rs4310080	0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs4424112	0.84[YRI][hapmap]
rs4596509	0.95[ASN][1000 genomes]
rs66533103	0.83[EUR][1000 genomes]
rs67021539	0.81[EUR][1000 genomes]
rs749375	0.81[EUR][1000 genomes]
rs9492864	0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs9492865	0.82[EUR][1000 genomes]
rs9492868	0.82[EUR][1000 genomes]
rs9492877	0.80[EUR][1000 genomes]
rs9492883	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv886665	chr6:131518894-131611309	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131488200-131534800	Weak transcription	Gastric	stomach
2	chr6:131505200-131522600	Weak transcription	HSMMtube	muscle
3	chr6:131505800-131534600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:131505800-131534800	Weak transcription	Pancreas	Pancrea
5	chr6:131506600-131523800	Weak transcription	HepG2	liver
6	chr6:131506600-131524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:131506600-131529800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:131506600-131532000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:131506800-131551800	Weak transcription	Ovary	ovary
10	chr6:131510400-131534800	Weak transcription	Small Intestine	intestine
11	chr6:131513000-131522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:131513000-131523000	Weak transcription	Placenta	Placenta
13	chr6:131513200-131526400	Weak transcription	Fetal Intestine Small	intestine
14	chr6:131513200-131536400	Weak transcription	Esophagus	oesophagus
15	chr6:131514400-131529800	Weak transcription	Brain Germinal Matrix	brain
16	chr6:131514400-131541400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:131518200-131525600	Weak transcription	Fetal Brain Male	brain
18	chr6:131518200-131531800	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:131518400-131522600	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:131518800-131534600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:131519200-131522600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:131520000-131522400	Strong transcription	Brain Anterior Caudate	brain
23	chr6:131520600-131522400	Strong transcription	Brain Hippocampus Middle	brain
24	chr6:131520600-131522600	Strong transcription	Fetal Stomach	stomach
25	chr6:131520800-131522000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:131520800-131522200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:131520800-131522400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:131520800-131522400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:131520800-131522400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr6:131520800-131522600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr6:131520800-131522600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:131521000-131522000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr6:131521000-131522400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:131521000-131522600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr6:131521000-131522600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:131521000-131524200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:131521000-131534800	Weak transcription	Psoas Muscle	Psoas
38	chr6:131521200-131522200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:131521200-131522400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:131521200-131522400	Flanking Active TSS	Dnd41	blood
41	chr6:131521200-131533000	Weak transcription	Fetal Lung	lung
42	chr6:131521200-131536200	Weak transcription	Lung	lung
43	chr6:131521200-131541400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:131521400-131522000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:131521400-131522200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:131521400-131522400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:131521400-131522600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:131521400-131526400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:131521400-131526600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:131521400-131534600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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