Variant report

Variant	rs6990400
Chromosome Location	chr8:102702050-102702051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10808374	0.81[EUR][1000 genomes]
rs10955269	0.82[EUR][1000 genomes]
rs1131862	0.90[CEU][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes]
rs1131863	0.90[CEU][hapmap];0.81[YRI][hapmap];0.89[EUR][1000 genomes]
rs11776907	0.87[EUR][1000 genomes]
rs12545764	0.81[EUR][1000 genomes]
rs12679729	0.82[EUR][1000 genomes]
rs16868177	0.81[YRI][hapmap]
rs2387620	0.91[JPT][hapmap]
rs2387621	0.84[JPT][hapmap]
rs2892325	0.82[EUR][1000 genomes]
rs35285056	0.82[EUR][1000 genomes]
rs35365856	0.82[EUR][1000 genomes]
rs4734036	0.85[EUR][1000 genomes]
rs4734567	0.82[EUR][1000 genomes]
rs4734584	0.91[JPT][hapmap]
rs6468783	0.81[YRI][hapmap]
rs6468786	0.91[JPT][hapmap]
rs6468787	0.91[JPT][hapmap]
rs66837307	0.81[EUR][1000 genomes]
rs67377728	0.82[EUR][1000 genomes]
rs7003051	0.82[EUR][1000 genomes]
rs7010161	0.91[EUR][1000 genomes]
rs7822657	0.85[EUR][1000 genomes]
rs7827945	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102696600-102704600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:102696600-102708400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:102697000-102703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:102697000-102706600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:102697600-102713000	Weak transcription	Psoas Muscle	Psoas
6	chr8:102697800-102703000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:102697800-102706800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:102698000-102702400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:102698200-102706000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:102698600-102704600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:102698800-102705600	Weak transcription	Colonic Mucosa	Colon
12	chr8:102699000-102705800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:102699200-102702600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:102699400-102702200	Strong transcription	Primary T cells from cord blood	blood
15	chr8:102699600-102702200	Weak transcription	Left Ventricle	heart
16	chr8:102699600-102705200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:102699600-102714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:102700000-102704600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:102700000-102730600	Weak transcription	Aorta	Aorta
20	chr8:102700200-102702800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:102700400-102702200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:102700400-102703000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:102700400-102706800	Weak transcription	Esophagus	oesophagus
24	chr8:102700600-102702800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:102701000-102702400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:102701200-102706200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:102701200-102713200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:102701400-102702600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:102701600-102702400	ZNF genes & repeats	Lung	lung
30	chr8:102701600-102702400	Enhancers	Spleen	Spleen
31	chr8:102701600-102702800	Bivalent Enhancer	Placenta	Placenta
32	chr8:102701600-102705000	Enhancers	Ovary	ovary
33	chr8:102701600-102705400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:102701600-102708600	Weak transcription	GM12878-XiMat	blood
35	chr8:102701800-102702200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:102701800-102702400	Weak transcription	Right Ventricle	heart
37	chr8:102701800-102703200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:102701800-102703400	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr8:102701800-102703400	Flanking Active TSS	Hela-S3	cervix
40	chr8:102701800-102703800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:102701800-102703800	Enhancers	Right Atrium	heart
42	chr8:102701800-102704000	Enhancers	Fetal Intestine Large	intestine
43	chr8:102701800-102704000	Enhancers	Fetal Intestine Small	intestine
44	chr8:102701800-102704200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:102701800-102704600	Enhancers	Colon Smooth Muscle	Colon
46	chr8:102701800-102709400	Weak transcription	Gastric	stomach
47	chr8:102702000-102702200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:102702000-102702200	Enhancers	Fetal Lung	lung
49	chr8:102702000-102702200	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr8:102702000-102702400	Enhancers	HUES48 Cell Line	embryonic stem cell

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