Variant report

Variant	rs4840517
Chromosome Location	chr8:10668047-10668048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10654838..10657527-chr8:10667570..10669417,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10089615	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10091961	0.85[ASN][1000 genomes]
rs10097283	0.87[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10097531	0.82[CHB][hapmap]
rs10099021	0.89[MEX][hapmap]
rs10100265	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10105487	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10107180	0.89[MEX][hapmap]
rs10107289	0.83[ASN][1000 genomes]
rs10109416	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs10113332	0.89[MEX][hapmap]
rs10481451	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10903330	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1115866	0.82[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1115867	0.82[ASN][1000 genomes]
rs11250073	0.94[JPT][hapmap]
rs11250074	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs11250077	0.83[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11250078	0.90[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs11250080	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11993903	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12542888	0.87[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12676417	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1549794	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs17152520	0.87[CHB][hapmap];0.93[CHD][hapmap];0.89[MEX][hapmap];0.85[ASN][1000 genomes]
rs17152576	0.92[EUR][1000 genomes]
rs1821002	0.83[ASN][1000 genomes]
rs2005309	0.87[ASN][1000 genomes]
rs2052963	0.82[CHD][hapmap];0.89[MEX][hapmap]
rs2116095	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2409651	0.81[CHB][hapmap]
rs2409658	0.96[ASN][1000 genomes]
rs2409663	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2409669	0.90[JPT][hapmap]
rs28429578	0.85[ASN][1000 genomes]
rs28570522	0.82[ASN][1000 genomes]
rs2898248	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4240669	0.82[ASN][1000 genomes]
rs4240670	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4321967	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4504595	0.86[ASN][1000 genomes]
rs4551304	0.99[ASN][1000 genomes]
rs4593498	0.86[ASN][1000 genomes]
rs4840516	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4841441	0.82[ASN][1000 genomes]
rs6601521	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs6601522	0.95[JPT][hapmap]
rs6601523	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6601524	0.89[MEX][hapmap]
rs6601527	0.99[ASN][1000 genomes]
rs6601529	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6601530	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6985218	0.89[MEX][hapmap]
rs6992039	0.83[CHB][hapmap];0.80[AMR][1000 genomes]
rs6993841	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6995541	0.86[CHB][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7002282	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs714371	0.85[ASN][1000 genomes]
rs752446	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7813706	0.82[ASN][1000 genomes]
rs7814142	0.82[ASN][1000 genomes]
rs7814757	0.87[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7823521	0.85[ASN][1000 genomes]
rs7825100	0.90[EUR][1000 genomes]
rs7826458	0.81[CHD][hapmap];0.89[MEX][hapmap]
rs7834466	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7836833	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS 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 miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:10640200-10669800	Weak transcription	Aorta	Aorta
3	chr8:10645000-10670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:10647000-10674400	Weak transcription	Right Ventricle	heart
5	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:10647200-10673600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:10647800-10669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:10648200-10669800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
10	chr8:10650000-10676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:10650600-10669000	Weak transcription	Fetal Stomach	stomach
12	chr8:10650600-10671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:10650800-10669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:10657200-10670000	Weak transcription	Lung	lung
15	chr8:10657400-10681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
17	chr8:10657600-10670000	Weak transcription	Gastric	stomach
18	chr8:10657600-10674200	Weak transcription	Pancreas	Pancrea
19	chr8:10657600-10674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:10657600-10674600	Weak transcription	Esophagus	oesophagus
21	chr8:10657600-10674600	Weak transcription	Left Ventricle	heart
22	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:10657800-10673000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:10657800-10673200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:10657800-10674400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:10657800-10674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:10657800-10680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:10657800-10680600	Weak transcription	HSMMtube	muscle
29	chr8:10658000-10669400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:10658000-10669400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:10658400-10673000	Weak transcription	Liver	Liver
32	chr8:10658400-10676000	Weak transcription	HepG2	liver
33	chr8:10658600-10673400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:10658600-10676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:10659400-10673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:10659400-10676000	Weak transcription	NHLF	lung
37	chr8:10659600-10682400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:10659800-10669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:10660000-10679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:10660200-10669600	Weak transcription	K562	blood
41	chr8:10660200-10673400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:10660400-10670600	Weak transcription	Osteobl	bone
43	chr8:10660400-10677000	Weak transcription	NHDF-Ad	bronchial
44	chr8:10662000-10673400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:10662200-10671400	Weak transcription	Brain Substantia Nigra	brain
46	chr8:10662600-10674400	Weak transcription	Brain Anterior Caudate	brain
47	chr8:10662600-10676000	Weak transcription	Brain Germinal Matrix	brain
48	chr8:10662800-10674400	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:10663000-10669000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:10663000-10681200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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