Variant report

Variant	rs11996910
Chromosome Location	chr8:107675453-107675454
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11985106	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11990726	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11991842	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11993732	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13260161	0.87[AMR][1000 genomes]
rs28921379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28921401	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924697	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28924705	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28924708	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28924709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56163038	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59850440	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62514883	0.86[ASN][1000 genomes]
rs62514960	0.87[EUR][1000 genomes]
rs62514961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514962	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514964	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514966	0.85[EUR][1000 genomes]
rs62514967	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514968	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514985	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514986	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62514987	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62514988	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62514989	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62514990	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514991	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514992	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514993	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514994	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514995	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514998	0.81[EUR][1000 genomes]
rs62517940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107670800-107675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107670800-107675800	Weak transcription	Spleen	Spleen
3	chr8:107670800-107685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:107671000-107675800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:107671200-107675800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:107671200-107675800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:107671200-107697200	Weak transcription	HSMM	muscle
8	chr8:107671400-107676600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:107671600-107675800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:107672000-107675800	Weak transcription	Right Atrium	heart
11	chr8:107672200-107675800	Weak transcription	Esophagus	oesophagus
12	chr8:107672200-107675800	Weak transcription	Left Ventricle	heart
13	chr8:107672200-107675800	Weak transcription	Ovary	ovary
14	chr8:107672200-107675800	Weak transcription	Pancreas	Pancrea
15	chr8:107672200-107675800	Weak transcription	Thymus	Thymus
16	chr8:107672200-107677200	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:107672200-107677200	Weak transcription	Lung	lung
18	chr8:107672200-107677400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
20	chr8:107672400-107685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:107672600-107676000	Weak transcription	Fetal Intestine Large	intestine
23	chr8:107672600-107678800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:107672600-107678800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:107672600-107679200	Weak transcription	Primary T cells from cord blood	blood
26	chr8:107672600-107679200	Weak transcription	NHEK	skin
27	chr8:107672600-107681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:107672600-107682200	Weak transcription	Aorta	Aorta
29	chr8:107672600-107683600	Weak transcription	Hela-S3	cervix
30	chr8:107672600-107684400	Weak transcription	Fetal Intestine Small	intestine
31	chr8:107672600-107684800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:107672600-107686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:107672800-107675600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:107672800-107675600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:107672800-107675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:107672800-107675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:107672800-107675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:107672800-107675800	Active TSS	GM12878-XiMat	blood
40	chr8:107672800-107677800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:107672800-107680600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:107672800-107685800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:107672800-107696000	Weak transcription	Fetal Kidney	kidney
44	chr8:107673000-107675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:107673000-107675600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:107673000-107675800	Weak transcription	Primary B cells from cord blood	blood
47	chr8:107673000-107675800	Weak transcription	K562	blood
48	chr8:107673000-107676000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:107673000-107676400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:107673000-107677200	Weak transcription	Stomach Mucosa	stomach

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