Variant report

Variant	rs2275994
Chromosome Location	chr8:102700230-102700231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102699783..102701302-chr8:102702548..102704933,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10090010	1.00[CHB][hapmap]
rs10091039	0.83[EUR][1000 genomes]
rs10093301	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10099482	0.90[EUR][1000 genomes]
rs10099649	0.90[EUR][1000 genomes]
rs10101770	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10106317	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10107483	1.00[CEU][hapmap]
rs10108888	0.87[CEU][hapmap]
rs10111577	0.86[EUR][1000 genomes]
rs10111904	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16868083	1.00[CHB][hapmap]
rs16868132	0.82[EUR][1000 genomes]
rs16868133	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16868134	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16868139	0.86[EUR][1000 genomes]
rs16868159	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16868178	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs16868196	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16868197	0.86[EUR][1000 genomes]
rs2387626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28469577	0.80[EUR][1000 genomes]
rs3939935	0.84[EUR][1000 genomes]
rs4507732	1.00[CHB][hapmap]
rs4734564	0.85[EUR][1000 genomes]
rs4734582	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6996060	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7816488	1.00[CEU][hapmap]
rs7816613	1.00[CEU][hapmap]
rs7821322	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7821561	1.00[CEU][hapmap];0.89[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102683200-102702000	Weak transcription	Fetal Lung	lung
2	chr8:102696200-102701600	Weak transcription	Gastric	stomach
3	chr8:102696400-102701000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:102696600-102704600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:102696600-102708400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:102696800-102701800	Weak transcription	Fetal Intestine Large	intestine
7	chr8:102696800-102701800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:102696800-102701800	Weak transcription	Right Atrium	heart
9	chr8:102696800-102702000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:102696800-102702000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:102697000-102700400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:102697000-102703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:102697000-102706600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:102697600-102713000	Weak transcription	Psoas Muscle	Psoas
15	chr8:102697800-102701800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr8:102697800-102703000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:102697800-102706800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:102698000-102702000	Strong transcription	Liver	Liver
19	chr8:102698000-102702000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr8:102698000-102702400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:102698200-102701400	Strong transcription	Ovary	ovary
22	chr8:102698200-102701800	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:102698200-102706000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:102698400-102702000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:102698600-102701400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:102698600-102704600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:102698800-102700400	Weak transcription	Fetal Stomach	stomach
28	chr8:102698800-102705600	Weak transcription	Colonic Mucosa	Colon
29	chr8:102699000-102700400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:102699000-102700600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:102699000-102700600	Enhancers	Adipose Nuclei	Adipose
32	chr8:102699000-102700800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:102699000-102701600	Weak transcription	Pancreas	Pancrea
34	chr8:102699000-102705800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:102699200-102700400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:102699200-102700600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:102699200-102702600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:102699400-102700400	Genic enhancers	Fetal Muscle Leg	muscle
39	chr8:102699400-102700400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:102699400-102701400	Weak transcription	Lung	lung
41	chr8:102699400-102702200	Strong transcription	Primary T cells from cord blood	blood
42	chr8:102699600-102700600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:102699600-102701000	Weak transcription	Right Ventricle	heart
44	chr8:102699600-102701600	Strong transcription	GM12878-XiMat	blood
45	chr8:102699600-102701800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:102699600-102702200	Weak transcription	Left Ventricle	heart
47	chr8:102699600-102705200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:102699600-102714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:102700000-102702000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:102700000-102702000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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