Variant report

Variant	rs4331082
Chromosome Location	chr11:8134093-8134094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10431030	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769869	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769873	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769874	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769876	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769878	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10839976	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10839982	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10839984	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10839985	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10839988	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11041742	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11041757	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11041773	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11607166	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3750955	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4340037	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4343012	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4384376	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4397840	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4497397	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110509	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941531	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8117000-8157600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:8120600-8148400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:8124000-8135600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:8124000-8139600	Weak transcription	Spleen	Spleen
5	chr11:8124200-8136400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:8124400-8135400	Weak transcription	Gastric	stomach
7	chr11:8124800-8136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:8126400-8160600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:8126800-8135600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:8128400-8135000	Weak transcription	Left Ventricle	heart
11	chr11:8128800-8162600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:8129400-8134600	Weak transcription	Right Ventricle	heart
13	chr11:8132000-8134200	Enhancers	Fetal Stomach	stomach
14	chr11:8132200-8134800	Weak transcription	Right Atrium	heart
15	chr11:8132400-8134200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:8132400-8134200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:8132400-8134200	Enhancers	Fetal Brain Male	brain
18	chr11:8132400-8134600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:8132400-8134600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:8132400-8135000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:8132400-8135600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:8132400-8135800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:8132400-8138200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:8132400-8148200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:8132400-8154600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:8132400-8157200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:8132400-8157200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:8132400-8159600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:8132600-8134800	Weak transcription	Aorta	Aorta
30	chr11:8132600-8134800	Weak transcription	Fetal Intestine Small	intestine
31	chr11:8132600-8135400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:8132600-8136400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:8132600-8138000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:8132600-8157600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:8132600-8157600	Weak transcription	Ovary	ovary
36	chr11:8132600-8158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:8132600-8160800	Weak transcription	Esophagus	oesophagus
38	chr11:8132600-8172200	Weak transcription	Pancreas	Pancrea
39	chr11:8132800-8135200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:8132800-8135400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:8133400-8135400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:8133600-8134200	Enhancers	Brain Hippocampus Middle	brain
43	chr11:8133600-8134400	Enhancers	Brain Germinal Matrix	brain
44	chr11:8133600-8135600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:8133600-8137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:8133600-8157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:8133600-8157800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:8133600-8162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:8133800-8134200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:8133800-8136400	Weak transcription	Brain Anterior Caudate	brain

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