Variant report

Variant	rs9650639
Chromosome Location	chr8:9542601-9542602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9536224..9538351-chr8:9540189..9542928,2	K562	blood:
2	chr8:9539321..9541643-chr8:9542322..9544841,2	K562	blood:

Variant related genes	Relation type
ENSG00000173273	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10081478	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10081565	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104032	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10106040	0.83[JPT][hapmap]
rs10111376	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10794712	0.81[CEU][hapmap]
rs10903317	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11249937	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11249942	0.81[CEU][hapmap]
rs11776236	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779335	0.80[CEU][hapmap]
rs12114182	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12114661	0.84[AFR][1000 genomes]
rs12155819	0.91[CHB][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs12541617	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12542457	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12542912	0.91[CHB][hapmap]
rs12543959	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544371	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13250951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13260526	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263409	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13264850	0.80[AFR][1000 genomes]
rs13270518	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13270801	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273033	0.80[CEU][hapmap]
rs13276086	0.90[CHB][hapmap];0.81[AMR][1000 genomes]
rs13282006	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1394	0.86[YRI][hapmap]
rs35316422	0.82[ASN][1000 genomes]
rs4129360	0.91[CHB][hapmap];0.84[AFR][1000 genomes]
rs4240629	0.81[CEU][hapmap]
rs4313162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4535744	0.81[CEU][hapmap]
rs4612345	0.81[AMR][1000 genomes]
rs4626603	0.85[CEU][hapmap]
rs4840434	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4840437	0.83[YRI][hapmap]
rs4841196	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4841203	0.81[AMR][1000 genomes]
rs4841212	0.80[CEU][hapmap]
rs6601344	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601350	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67711814	0.80[AMR][1000 genomes]
rs6982148	0.91[CHB][hapmap]
rs6990300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992666	0.81[ASN][1000 genomes]
rs6994574	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs7003791	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006985	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7010270	0.80[CEU][hapmap]
rs7461376	0.81[CEU][hapmap]
rs7461939	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7462070	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7462910	0.80[CEU][hapmap]
rs7822700	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7822904	0.81[CEU][hapmap]
rs7840706	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9644704	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9644707	0.81[ASN][1000 genomes]
rs9644708	0.91[CHB][hapmap]
rs9650638	0.81[CEU][hapmap]

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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
2	chr8:9509400-9545000	Weak transcription	HSMM	muscle
3	chr8:9510400-9563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:9511000-9564200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:9511600-9554600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:9512400-9551400	Weak transcription	Dnd41	blood
7	chr8:9512600-9543800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:9513200-9564200	Weak transcription	Ovary	ovary
9	chr8:9513200-9567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:9513600-9543600	Weak transcription	Fetal Stomach	stomach
12	chr8:9513800-9563600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:9521000-9544800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:9521400-9544200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:9522000-9545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:9522400-9546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:9523800-9545000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:9524200-9544600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:9529600-9545000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:9529600-9545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:9529600-9549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
23	chr8:9530600-9543800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:9530600-9549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:9530800-9543400	Weak transcription	Primary T cells from cord blood	blood
26	chr8:9530800-9549800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:9531200-9564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:9532000-9543400	Weak transcription	A549	lung
29	chr8:9532000-9543400	Weak transcription	GM12878-XiMat	blood
30	chr8:9532400-9543400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:9534800-9544600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:9534800-9563600	Weak transcription	HepG2	liver
33	chr8:9535000-9543600	Weak transcription	Fetal Intestine Small	intestine
34	chr8:9535000-9544800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:9535000-9545400	Weak transcription	Liver	Liver
36	chr8:9535000-9564800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:9535000-9608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:9535400-9560800	Weak transcription	HMEC	breast
39	chr8:9535400-9563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:9535600-9543600	Weak transcription	Fetal Intestine Large	intestine
41	chr8:9536400-9563400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:9537000-9543400	Weak transcription	Adipose Nuclei	Adipose
43	chr8:9537200-9545000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:9537400-9543400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:9537400-9543600	Weak transcription	Left Ventricle	heart
46	chr8:9537400-9543600	Weak transcription	Lung	lung
47	chr8:9537400-9544600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:9537400-9549400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:9537400-9563600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:9537600-9543400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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