Variant report

Variant	rs2511717
Chromosome Location	chr8:103658004-103658005
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103611739..103615321-chr8:103653896..103661701,12	MCF-7	breast:
2	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
3	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
4	chr8:103656192..103659911-chr8:103661588..103665450,4	K562	blood:
5	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
6	chr8:103448154..103449973-chr8:103656128..103658488,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1991933	0.88[EUR][1000 genomes]
rs2053127	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2436934	1.00[EUR][1000 genomes]
rs2436935	1.00[EUR][1000 genomes]
rs2436939	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2436941	1.00[EUR][1000 genomes]
rs2511715	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511716	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511720	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511721	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511723	0.80[EUR][1000 genomes]
rs2511725	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2511726	1.00[EUR][1000 genomes]
rs2511727	1.00[EUR][1000 genomes]
rs2511728	1.00[EUR][1000 genomes]
rs2511729	1.00[EUR][1000 genomes]
rs2511752	1.00[JPT][hapmap]
rs919949	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103644800-103659600	Weak transcription	Spleen	Spleen
2	chr8:103645600-103660000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:103647000-103661600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:103647000-103662000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:103647000-103662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103648200-103661800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:103649000-103659800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:103649600-103659800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:103649800-103662000	Weak transcription	Fetal Stomach	stomach
10	chr8:103650000-103659600	Weak transcription	Placenta	Placenta
11	chr8:103650200-103660000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:103652400-103659600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:103652400-103659800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:103652600-103659600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:103652600-103659800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:103654000-103659600	Weak transcription	Aorta	Aorta
17	chr8:103654000-103659800	Weak transcription	Lung	lung
18	chr8:103654000-103662200	Weak transcription	Gastric	stomach
19	chr8:103654400-103662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:103654800-103659800	Weak transcription	A549	lung
21	chr8:103654800-103661200	Weak transcription	HepG2	liver
22	chr8:103655200-103659800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:103655200-103661800	Weak transcription	Brain Germinal Matrix	brain
24	chr8:103655400-103659800	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:103655600-103659000	Weak transcription	Left Ventricle	heart
26	chr8:103655800-103659800	Weak transcription	Psoas Muscle	Psoas
27	chr8:103655800-103661000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:103656000-103659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:103656000-103662200	Weak transcription	Fetal Brain Female	brain
30	chr8:103656200-103659200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:103656200-103659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:103656600-103659800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:103656600-103659800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:103656600-103659800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:103656600-103662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:103656800-103661800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:103656800-103663200	Weak transcription	Fetal Brain Male	brain
38	chr8:103657000-103659200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:103657000-103662000	Weak transcription	Thymus	Thymus
40	chr8:103657200-103658800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr8:103657200-103660000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:103657400-103659600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:103657600-103659600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:103657600-103659600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:103657600-103659600	Weak transcription	Adipose Nuclei	Adipose
46	chr8:103657600-103659600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:103657600-103659800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:103657600-103659800	Weak transcription	HUVEC	blood vessel
49	chr8:103657600-103660000	Weak transcription	Primary B cells from cord blood	blood
50	chr8:103657800-103659000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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