Variant report

Variant	rs17287702
Chromosome Location	chr8:131396561-131396562
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	chr8:131389274..131391733-chr8:131394975..131397039,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10086454	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs10086773	0.86[ASN][1000 genomes]
rs10087626	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1008819	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs10090106	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10090231	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10090767	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10099549	0.89[ASN][1000 genomes]
rs10099586	0.83[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs10103132	0.89[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs10107054	0.84[ASN][1000 genomes]
rs10111650	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956522	0.89[ASN][1000 genomes]
rs10956523	0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs11784638	0.86[ASN][1000 genomes]
rs11992217	0.89[ASN][1000 genomes]
rs11992885	0.84[ASN][1000 genomes]
rs11992932	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs11992957	0.82[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11993714	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs11993741	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs11997462	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12678030	0.89[ASN][1000 genomes]
rs12678062	0.83[ASN][1000 genomes]
rs12678808	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12680178	0.89[ASN][1000 genomes]
rs12680697	0.83[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12681664	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13249894	0.84[ASN][1000 genomes]
rs13255178	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13260346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275147	0.89[ASN][1000 genomes]
rs13275883	0.93[ASN][1000 genomes]
rs13276168	0.84[ASN][1000 genomes]
rs1340020	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs16904260	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904267	0.86[ASN][1000 genomes]
rs16904268	0.86[ASN][1000 genomes]
rs17215817	0.84[ASN][1000 genomes]
rs1978551	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs2791349	0.84[CEU][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs28545757	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28559741	0.94[ASN][1000 genomes]
rs28562521	0.86[ASN][1000 genomes]
rs28707621	0.84[ASN][1000 genomes]
rs28716119	0.84[ASN][1000 genomes]
rs34003529	0.86[ASN][1000 genomes]
rs34019017	0.86[ASN][1000 genomes]
rs34188408	0.89[ASN][1000 genomes]
rs34542318	0.84[ASN][1000 genomes]
rs34676374	0.86[ASN][1000 genomes]
rs34737610	0.84[ASN][1000 genomes]
rs34987314	0.86[ASN][1000 genomes]
rs35123370	0.86[ASN][1000 genomes]
rs35229803	0.85[ASN][1000 genomes]
rs35592532	0.84[ASN][1000 genomes]
rs4504679	0.81[ASN][1000 genomes]
rs4574884	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4609234	0.89[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs5027392	0.86[ASN][1000 genomes]
rs56677646	0.84[ASN][1000 genomes]
rs6986119	0.86[ASN][1000 genomes]
rs6986163	0.86[ASN][1000 genomes]
rs6990443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812299	0.84[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7812469	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7822259	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7822957	0.84[ASN][1000 genomes]
rs7823146	0.83[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7828824	0.84[ASN][1000 genomes]
rs7838650	0.89[ASN][1000 genomes]
rs7844582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv982153	chr8:131391067-131407495	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs17287702	LIN7A	trans	lymphoblastoid	seeQTL
rs17287702	HNF1B	trans	lymphoblastoid	seeQTL
rs17287702	MYO6	trans	lymphoblastoid	seeQTL
rs17287702	FAM171A1	trans	lymphoblastoid	seeQTL
rs17287702	LEPREL1	trans	lymphoblastoid	seeQTL
rs17287702	OAS3	trans	lymphoblastoid	seeQTL
rs17287702	C1orf106	trans	lymphoblastoid	seeQTL
rs17287702	CRIM1	trans	lymphoblastoid	seeQTL
rs17287702	PARP12	trans	lymphoblastoid	seeQTL
rs17287702	SLA	cis	cerebellum	SCAN
rs17287702	KYNU	trans	lymphoblastoid	seeQTL
rs17287702	PLCL2	trans	lymphoblastoid	seeQTL
rs17287702	HOXB2	trans	lymphoblastoid	seeQTL
rs17287702	ATP1B1	trans	lymphoblastoid	seeQTL
rs17287702	MNX1	trans	lymphoblastoid	seeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
3	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
4	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:131382600-131398800	Weak transcription	Lung	lung
7	chr8:131383200-131396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:131383200-131397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
10	chr8:131384000-131400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:131384600-131397000	Weak transcription	Ovary	ovary
12	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
13	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
15	chr8:131387000-131398000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:131388600-131397000	Weak transcription	NHDF-Ad	bronchial
17	chr8:131388600-131398600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:131388600-131398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:131388600-131400200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:131388600-131407200	Weak transcription	HSMM	muscle
21	chr8:131388800-131400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:131388800-131400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:131388800-131400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
26	chr8:131389600-131399200	Strong transcription	NHEK	skin
27	chr8:131390000-131400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:131390200-131397800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:131390200-131398600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:131390200-131399000	Strong transcription	Fetal Muscle Leg	muscle
31	chr8:131390400-131397800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:131390400-131400200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:131390400-131401000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:131390400-131407200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:131390800-131398600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:131390800-131401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:131390800-131401400	Weak transcription	Liver	Liver
38	chr8:131390800-131407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:131392000-131397000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:131392200-131399200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:131392200-131400200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:131392400-131397600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:131392400-131398600	Weak transcription	Esophagus	oesophagus
44	chr8:131392400-131407600	Weak transcription	HSMMtube	muscle
45	chr8:131392800-131399400	Strong transcription	A549	lung
46	chr8:131393000-131400400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:131393000-131401000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:131393200-131396600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:131393200-131399000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:131393600-131397600	Weak transcription	Osteobl	bone

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