Variant report

Variant	rs2382991
Chromosome Location	chr8:125696872-125696873
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125683953..125685840-chr8:125696381..125699279,2	K562	blood:
2	chr8:125695281..125696989-chr8:125701339..125704256,2	MCF-7	breast:
3	chr8:125695412..125697895-chr8:125698374..125700260,3	K562	blood:
4	chr8:125681064..125685199-chr8:125693703..125697375,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2116081	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2382992	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125681200-125701000	Weak transcription	HMEC	breast
4	chr8:125686200-125697600	Weak transcription	HUVEC	blood vessel
5	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:125686400-125698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125686400-125698400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:125686400-125699400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:125686800-125699600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:125687600-125699200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:125688200-125699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:125691600-125697600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:125692600-125699200	Enhancers	Brain Germinal Matrix	brain
14	chr8:125692800-125699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:125693000-125697200	Enhancers	Liver	Liver
16	chr8:125693200-125699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:125693400-125697200	Enhancers	Fetal Kidney	kidney
18	chr8:125694200-125701400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:125694400-125697600	Enhancers	Fetal Lung	lung
20	chr8:125694400-125703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:125694600-125697800	Enhancers	K562	blood
22	chr8:125694600-125701600	Enhancers	Fetal Stomach	stomach
23	chr8:125695000-125697000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr8:125695000-125697000	Enhancers	HepG2	liver
25	chr8:125695000-125697600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:125695000-125698000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:125695000-125698000	Weak transcription	Pancreas	Pancrea
28	chr8:125695000-125698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:125695000-125698200	Weak transcription	Brain Anterior Caudate	brain
30	chr8:125695000-125698200	Weak transcription	Fetal Thymus	thymus
31	chr8:125695000-125698200	Weak transcription	Lung	lung
32	chr8:125695000-125698400	Weak transcription	Spleen	Spleen
33	chr8:125695000-125699200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:125695000-125699200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:125695000-125699400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr8:125695000-125702200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:125695000-125704800	Weak transcription	Gastric	stomach
38	chr8:125695200-125698200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:125695200-125698200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:125695200-125698600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:125695200-125700400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:125695400-125697200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:125695600-125697000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:125695600-125697800	Enhancers	Brain Angular Gyrus	brain
45	chr8:125695800-125697000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:125695800-125697600	Enhancers	Rectal Smooth Muscle	rectum
47	chr8:125695800-125699600	Enhancers	Brain Substantia Nigra	brain
48	chr8:125696000-125697600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:125696000-125698000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:125696200-125697400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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