Variant report

Variant	rs10486805
Chromosome Location	chr7:39747925-39747926
allele	C/G
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:
5	chr7:39661494..39663299-chr7:39746333..39747974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10253933	1.00[ASN][1000 genomes]
rs10267545	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10486803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11765970	0.95[ASN][1000 genomes]
rs11773499	1.00[JPT][hapmap]
rs11773617	0.95[ASN][1000 genomes]
rs12668144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12669963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12701755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12701756	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701757	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701759	0.95[ASN][1000 genomes]
rs13247563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17417049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17417084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34063025	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34910913	0.95[ASN][1000 genomes]
rs35314132	0.96[ASN][1000 genomes]
rs35774126	0.83[ASN][1000 genomes]
rs35943406	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3779200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs6462940	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6976944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6977082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs7778955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779169	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7797693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648483	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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	chr7:39732000-39748000	Strong transcription	HUVEC	blood vessel
4	chr7:39732000-39749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:39736600-39749400	Weak transcription	Fetal Heart	heart
6	chr7:39737400-39749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:39737600-39748800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:39737800-39749400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:39737800-39749400	Weak transcription	Psoas Muscle	Psoas
10	chr7:39738000-39748600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:39738000-39749200	Weak transcription	Fetal Brain Female	brain
12	chr7:39738000-39749400	Weak transcription	Placenta	Placenta
13	chr7:39738400-39748400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:39738600-39748800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:39738600-39748800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:39738600-39749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:39739600-39749600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:39740200-39748000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:39740200-39749200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:39740200-39749400	Weak transcription	Pancreas	Pancrea
21	chr7:39740200-39749400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:39740200-39749600	Weak transcription	Lung	lung
23	chr7:39740200-39752000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:39740400-39749000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:39740400-39749600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:39740600-39748200	Weak transcription	Brain Anterior Caudate	brain
27	chr7:39740600-39749400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:39740600-39749400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:39740800-39748600	Weak transcription	Fetal Thymus	thymus
30	chr7:39740800-39749000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:39740800-39749200	Weak transcription	Brain Germinal Matrix	brain
32	chr7:39740800-39749200	Weak transcription	GM12878-XiMat	blood
33	chr7:39740800-39749200	Weak transcription	NHLF	lung
34	chr7:39740800-39749400	Weak transcription	Thymus	Thymus
35	chr7:39741000-39748600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:39741000-39749200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:39741200-39748200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:39741200-39748600	Weak transcription	Fetal Lung	lung
39	chr7:39741200-39748800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:39741200-39749400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:39741200-39749600	Weak transcription	Dnd41	blood
42	chr7:39741200-39753000	Weak transcription	Spleen	Spleen
43	chr7:39741400-39748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:39741400-39749200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:39741600-39748600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:39741600-39749200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:39741600-39749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:39741600-39749800	Weak transcription	Fetal Intestine Small	intestine
49	chr7:39741800-39748200	Weak transcription	NHEK	skin
50	chr7:39742000-39749200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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