Variant report

Variant	rs6983111
Chromosome Location	chr8:107765014-107765015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11988518	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11990338	0.82[ASN][1000 genomes]
rs11996457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056528	0.85[ASN][1000 genomes]
rs12675956	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs12676199	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12681427	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12681916	0.90[ASN][1000 genomes]
rs1542644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2881423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101531	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3101532	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3101533	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3101534	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3101538	1.00[ASW][hapmap];0.91[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3101539	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102431	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3102432	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3102434	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3110429	0.82[ASN][1000 genomes]
rs3132806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3132807	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3134127	0.86[ASN][1000 genomes]
rs3134129	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6469077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983210	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs7000202	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7817274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107719600-107765600	Weak transcription	Colonic Mucosa	Colon
2	chr8:107719600-107775200	Weak transcription	Gastric	stomach
3	chr8:107719600-107777800	Weak transcription	Esophagus	oesophagus
4	chr8:107739000-107775200	Weak transcription	A549	lung
5	chr8:107740000-107775200	Weak transcription	Ovary	ovary
6	chr8:107740200-107767400	Weak transcription	K562	blood
7	chr8:107740200-107783800	Weak transcription	Fetal Brain Male	brain
8	chr8:107740800-107775200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:107741000-107768200	Weak transcription	Brain Germinal Matrix	brain
10	chr8:107747000-107768000	Weak transcription	Small Intestine	intestine
11	chr8:107749400-107775200	Weak transcription	HMEC	breast
12	chr8:107753200-107771400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:107753600-107777400	Weak transcription	HUVEC	blood vessel
14	chr8:107753800-107775200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:107754200-107775200	Weak transcription	Pancreas	Pancrea
16	chr8:107754400-107766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:107754800-107775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:107755200-107772000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:107755400-107771600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:107755800-107771200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:107755800-107777800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:107756000-107775000	Weak transcription	Fetal Heart	heart
23	chr8:107756400-107766800	Weak transcription	Primary T cells from cord blood	blood
24	chr8:107756400-107767000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:107756400-107772400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:107756400-107775000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:107756400-107777800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:107756600-107765400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:107756600-107765400	Weak transcription	Dnd41	blood
30	chr8:107756600-107769800	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:107756600-107771200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:107756600-107772000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:107756600-107772200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:107756600-107772400	Weak transcription	Left Ventricle	heart
35	chr8:107756600-107772800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:107756600-107775200	Weak transcription	Brain Angular Gyrus	brain
37	chr8:107756600-107775200	Weak transcription	Brain Anterior Caudate	brain
38	chr8:107756600-107775200	Weak transcription	Fetal Intestine Large	intestine
39	chr8:107756600-107775200	Weak transcription	Fetal Kidney	kidney
40	chr8:107756600-107775200	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:107756600-107775200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:107756600-107777400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:107756600-107777400	Weak transcription	Psoas Muscle	Psoas
44	chr8:107756600-107777600	Weak transcription	Fetal Brain Female	brain
45	chr8:107756800-107766600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:107756800-107775200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:107756800-107775200	Weak transcription	Osteobl	bone
48	chr8:107757000-107768600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:107757200-107771400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:107757200-107775200	Weak transcription	NHDF-Ad	bronchial

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