Variant report

Variant	rs11250079
Chromosome Location	chr8:10673008-10673009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10672246..10673781-chr8:10676914..10678468,2	K562	blood:
2	chr8:10671204..10673781-chr8:10675039..10678414,4	K562	blood:
3	chr8:10655273..10657441-chr8:10673003..10675779,2	MCF-7	breast:
4	chr8:10412812..10415531-chr8:10671274..10673611,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10091961	0.91[ASN][1000 genomes]
rs10092781	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs10094907	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs10097531	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10099021	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10099137	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10099928	0.88[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10105487	0.83[CHB][hapmap]
rs10107180	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10109034	0.83[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs10113332	0.82[CHB][hapmap]
rs10113343	0.92[JPT][hapmap]
rs10481451	0.83[CHB][hapmap]
rs10903330	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs11250078	0.88[CHB][hapmap]
rs11250080	0.88[CHB][hapmap]
rs11993903	0.83[CHB][hapmap]
rs12550169	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12679010	0.92[JPT][hapmap]
rs12679155	0.92[JPT][hapmap]
rs12679178	0.84[JPT][hapmap]
rs12680846	0.91[JPT][hapmap]
rs12681375	0.92[JPT][hapmap]
rs1549794	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17152520	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2005311	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs2033369	0.92[JPT][hapmap]
rs2052963	0.94[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2409651	0.93[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs28429578	0.88[ASN][1000 genomes]
rs4240670	0.83[CHB][hapmap]
rs6601524	0.91[JPT][hapmap]
rs6601525	0.92[JPT][hapmap]
rs6601530	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs6985218	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6992039	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs6995541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs714371	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs752446	0.82[CHB][hapmap]
rs7814757	0.83[CHB][hapmap]
rs7820819	0.80[ASN][1000 genomes]
rs7823521	0.91[ASN][1000 genomes]
rs7826180	0.83[JPT][hapmap]
rs7826189	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs7826458	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7834323	0.83[ASN][1000 genomes]
rs7834466	0.81[CHB][hapmap]
rs7836194	0.84[JPT][hapmap]
rs7838341	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7841093	0.94[EUR][1000 genomes]
rs891554	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9644730	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs9969626	0.80[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10647000-10674400	Weak transcription	Right Ventricle	heart
2	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:10647200-10673600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:10650000-10676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10657400-10681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
8	chr8:10657600-10674200	Weak transcription	Pancreas	Pancrea
9	chr8:10657600-10674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:10657600-10674600	Weak transcription	Esophagus	oesophagus
11	chr8:10657600-10674600	Weak transcription	Left Ventricle	heart
12	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:10657800-10673200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:10657800-10674400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:10657800-10674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:10657800-10680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:10657800-10680600	Weak transcription	HSMMtube	muscle
18	chr8:10658400-10676000	Weak transcription	HepG2	liver
19	chr8:10658600-10673400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:10658600-10676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:10659400-10673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:10659400-10676000	Weak transcription	NHLF	lung
23	chr8:10659600-10682400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:10660000-10679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:10660200-10673400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:10660400-10677000	Weak transcription	NHDF-Ad	bronchial
27	chr8:10662000-10673400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:10662600-10674400	Weak transcription	Brain Anterior Caudate	brain
29	chr8:10662600-10676000	Weak transcription	Brain Germinal Matrix	brain
30	chr8:10662800-10674400	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:10663000-10681200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:10663000-10681400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:10663200-10673400	Weak transcription	HMEC	breast
35	chr8:10665400-10673200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:10665400-10674400	Weak transcription	Fetal Intestine Large	intestine
37	chr8:10665400-10674600	Weak transcription	Spleen	Spleen
38	chr8:10665400-10675200	Weak transcription	Ovary	ovary
39	chr8:10665400-10678600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:10665400-10680800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:10665600-10674600	Weak transcription	Fetal Brain Female	brain
42	chr8:10665600-10674600	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:10665600-10676000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:10665600-10680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:10665800-10688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:10666000-10675800	Weak transcription	Fetal Lung	lung
47	chr8:10666400-10678600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
49	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:10667400-10675200	Weak transcription	HSMM	muscle

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