Variant report

Variant	rs17508585
Chromosome Location	chr7:39748116-39748117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39745397..39755065-chr7:39757582..39762895,14	K562	blood:
2	chr7:39663965..39666888-chr7:39745709..39748529,2	K562	blood:
3	chr7:39747835..39755058-chr7:39757872..39764388,13	K562	blood:
4	chr7:39747576..39749380-chr7:39750182..39752361,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10231409	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10486802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11770964	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666517	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668645	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17171616	0.89[JPT][hapmap]
rs17416875	0.89[JPT][hapmap]
rs17507811	0.89[JPT][hapmap]
rs17508730	0.90[JPT][hapmap]
rs2107707	0.86[CEU][hapmap]
rs34821005	0.80[EUR][1000 genomes]
rs3779203	0.90[JPT][hapmap]
rs62454689	0.83[EUR][1000 genomes]
rs7796021	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799721	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39715200-39749400	Weak transcription	Aorta	Aorta
2	chr7:39730600-39749200	Weak transcription	Ovary	ovary
3	chr7:39732000-39749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:39736600-39749400	Weak transcription	Fetal Heart	heart
5	chr7:39737400-39749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:39737600-39748800	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:39737800-39749400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:39737800-39749400	Weak transcription	Psoas Muscle	Psoas
9	chr7:39738000-39748600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:39738000-39749200	Weak transcription	Fetal Brain Female	brain
11	chr7:39738000-39749400	Weak transcription	Placenta	Placenta
12	chr7:39738400-39748400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:39738600-39748800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:39738600-39748800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:39738600-39749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:39739600-39749600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:39740200-39749200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:39740200-39749400	Weak transcription	Pancreas	Pancrea
19	chr7:39740200-39749400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:39740200-39749600	Weak transcription	Lung	lung
21	chr7:39740200-39752000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:39740400-39749000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:39740400-39749600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:39740600-39748200	Weak transcription	Brain Anterior Caudate	brain
25	chr7:39740600-39749400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:39740600-39749400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:39740800-39748600	Weak transcription	Fetal Thymus	thymus
28	chr7:39740800-39749000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:39740800-39749200	Weak transcription	Brain Germinal Matrix	brain
30	chr7:39740800-39749200	Weak transcription	GM12878-XiMat	blood
31	chr7:39740800-39749200	Weak transcription	NHLF	lung
32	chr7:39740800-39749400	Weak transcription	Thymus	Thymus
33	chr7:39741000-39748600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:39741000-39749200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:39741200-39748200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:39741200-39748600	Weak transcription	Fetal Lung	lung
37	chr7:39741200-39748800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:39741200-39749400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:39741200-39749600	Weak transcription	Dnd41	blood
40	chr7:39741200-39753000	Weak transcription	Spleen	Spleen
41	chr7:39741400-39748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:39741400-39749200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:39741600-39748600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:39741600-39749200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:39741600-39749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:39741600-39749800	Weak transcription	Fetal Intestine Small	intestine
47	chr7:39741800-39748200	Weak transcription	NHEK	skin
48	chr7:39742000-39749200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:39742800-39749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:39742800-39749200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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