Variant report

Variant	rs3857954
Chromosome Location	chr8:125703285-125703286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125703204..125704827-chr8:125704961..125706579,2	MCF-7	breast:
2	chr8:125695281..125696989-chr8:125701339..125704256,2	MCF-7	breast:
3	chr8:125703076..125705336-chr8:125860623..125862726,2	K562	blood:
4	chr8:125698153..125699926-chr8:125701399..125703514,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249816	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10090511	0.83[CEU][hapmap];0.88[GIH][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs10956195	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956197	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543812	0.86[ASN][1000 genomes]
rs2116082	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530739	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6985856	0.85[ASN][1000 genomes]
rs6986014	0.94[JPT][hapmap]
rs6998715	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125695000-125704800	Weak transcription	Gastric	stomach
2	chr8:125696200-125705000	Weak transcription	Esophagus	oesophagus
3	chr8:125697800-125704000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:125700400-125703600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:125700400-125704600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:125700600-125703400	Enhancers	Brain Substantia Nigra	brain
7	chr8:125700600-125704200	Weak transcription	Colonic Mucosa	Colon
8	chr8:125700600-125704400	Enhancers	Liver	Liver
9	chr8:125700600-125705800	Enhancers	HepG2	liver
10	chr8:125700800-125703400	Enhancers	Fetal Brain Male	brain
11	chr8:125701000-125703600	Enhancers	Brain Hippocampus Middle	brain
12	chr8:125701000-125704600	Weak transcription	Small Intestine	intestine
13	chr8:125701000-125704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:125701000-125704800	Weak transcription	Fetal Intestine Large	intestine
15	chr8:125701000-125721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:125701200-125704200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:125701200-125704800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:125701200-125704800	Weak transcription	K562	blood
19	chr8:125701200-125705000	Weak transcription	Fetal Brain Female	brain
20	chr8:125701200-125706000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:125701200-125706400	Weak transcription	HUVEC	blood vessel
22	chr8:125701400-125711400	Weak transcription	HSMMtube	muscle
23	chr8:125701600-125704400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:125701600-125704600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:125701600-125704800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:125701600-125704800	Weak transcription	Adipose Nuclei	Adipose
27	chr8:125701600-125704800	Weak transcription	Fetal Stomach	stomach
28	chr8:125701600-125705000	Weak transcription	HMEC	breast
29	chr8:125701600-125706200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:125701600-125713200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:125701600-125713800	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:125701600-125717000	Weak transcription	Thymus	Thymus
33	chr8:125701800-125713400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:125701800-125714800	Weak transcription	NHEK	skin
35	chr8:125702000-125712200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:125702400-125704800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:125702600-125703800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr8:125702600-125704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:125702600-125704600	Weak transcription	Stomach Mucosa	stomach
40	chr8:125702600-125710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:125702600-125711000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:125702600-125711600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:125702600-125711600	Weak transcription	Right Ventricle	heart
44	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:125702800-125703400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:125702800-125703600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr8:125702800-125704200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:125702800-125704400	Weak transcription	Pancreas	Pancrea
49	chr8:125702800-125704600	Weak transcription	Primary B cells from cord blood	blood
50	chr8:125702800-125704600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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