Variant report

Variant	rs2599710
Chromosome Location	chr8:96073633-96073634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96072613..96074836-chr8:96123905..96125800,3	MCF-7	breast:
2	chr8:96071292..96073984-chr8:96078454..96081250,3	K562	blood:
3	chr8:96066564..96073895-chr8:96144947..96151399,9	MCF-7	breast:
4	chr8:96072969..96074984-chr8:96296064..96297996,2	K562	blood:
5	chr8:96072280..96082057-chr8:96143406..96150431,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2122959	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2678822	0.91[CEU][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2678827	0.96[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34676693	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59675487	0.86[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
2	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:96062000-96078400	Weak transcription	Small Intestine	intestine
4	chr8:96062000-96083800	Weak transcription	Fetal Brain Male	brain
5	chr8:96062600-96079000	Weak transcription	NHLF	lung
6	chr8:96062600-96079800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:96062800-96074600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:96062800-96079200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:96062800-96079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:96062800-96080200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:96063200-96074200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:96063200-96078800	Weak transcription	HSMM	muscle
13	chr8:96063200-96078800	Weak transcription	NH-A	brain
14	chr8:96063400-96074200	Weak transcription	HMEC	breast
15	chr8:96063800-96074800	Weak transcription	Fetal Kidney	kidney
16	chr8:96063800-96080400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:96063800-96081400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:96064000-96079800	Weak transcription	Brain Substantia Nigra	brain
19	chr8:96064200-96074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:96064400-96078800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:96064600-96080200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:96064800-96079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:96065200-96078600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:96068800-96082200	Weak transcription	Fetal Brain Female	brain
25	chr8:96070400-96078400	Weak transcription	HUVEC	blood vessel
26	chr8:96070600-96074000	Weak transcription	Placenta	Placenta
27	chr8:96070600-96074000	Weak transcription	NHEK	skin
28	chr8:96070600-96074400	Weak transcription	Hela-S3	cervix
29	chr8:96070600-96074600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:96070600-96074800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:96070600-96076800	Weak transcription	Gastric	stomach
32	chr8:96070600-96077000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:96070600-96078800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:96070600-96079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:96070600-96079800	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:96070600-96079800	Weak transcription	Esophagus	oesophagus
37	chr8:96070600-96079800	Weak transcription	Spleen	Spleen
38	chr8:96071000-96074400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:96071000-96074400	Weak transcription	NHDF-Ad	bronchial
40	chr8:96071000-96074400	Weak transcription	Osteobl	bone
41	chr8:96071000-96075000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:96071000-96079200	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:96071000-96080000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:96071000-96080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:96071200-96074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:96071200-96074400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:96071200-96074800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:96071200-96076600	Weak transcription	Liver	Liver
49	chr8:96071200-96078400	Weak transcription	Aorta	Aorta
50	chr8:96071200-96078800	Weak transcription	Duodenum Mucosa	Duodenum

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