Variant report

Variant	rs7814757
Chromosome Location	chr8:10675188-10675189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10674954..10678350-chr8:10693952..10697087,3	K562	blood:
2	chr8:10671204..10673781-chr8:10675039..10678414,4	K562	blood:
3	chr8:10655273..10657441-chr8:10673003..10675779,2	MCF-7	breast:
4	chr8:10674524..10677009-chr8:10677940..10680830,2	K562	blood:
5	chr8:10670666..10672714-chr8:10674903..10676605,2	K562	blood:
6	chr8:10674524..10677009-chr8:10677940..10682794,6	K562	blood:
7	chr8:10461544..10463468-chr8:10674781..10677553,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10089615	0.89[JPT][hapmap]
rs10091386	0.85[CEU][hapmap]
rs10093774	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs10097283	0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10098699	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10100265	0.90[JPT][hapmap]
rs10105487	0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10481451	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1073913	0.84[EUR][1000 genomes]
rs10903330	0.80[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1115866	0.89[JPT][hapmap]
rs11250073	0.89[JPT][hapmap]
rs11250074	0.90[JPT][hapmap]
rs11250077	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11250078	0.91[CHB][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11250079	0.83[CHB][hapmap]
rs11250080	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11986935	0.81[CEU][hapmap]
rs11993903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11996727	0.81[CEU][hapmap]
rs12542888	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12676417	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1968400	0.82[EUR][1000 genomes]
rs1991651	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2005309	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2052963	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs2116093	0.82[EUR][1000 genomes]
rs2116095	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs2277130	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2409651	0.95[CHB][hapmap]
rs2409658	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2409669	0.92[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs2898248	0.89[JPT][hapmap]
rs2898251	0.81[EUR][1000 genomes]
rs34653170	0.98[EUR][1000 genomes]
rs35091929	0.95[EUR][1000 genomes]
rs3808603	0.84[CEU][hapmap]
rs4240670	0.91[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4321967	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs4504595	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4551304	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4593498	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4840513	0.81[EUR][1000 genomes]
rs4840516	0.96[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4840517	0.87[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs4841452	1.00[CEU][hapmap];0.84[YRI][hapmap];0.96[EUR][1000 genomes]
rs6601521	0.90[JPT][hapmap]
rs6601522	0.90[JPT][hapmap]
rs6601523	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs6601527	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601529	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601530	0.81[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6601536	0.80[CEU][hapmap]
rs6980805	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6984744	0.81[EUR][1000 genomes]
rs6987199	0.81[ASN][1000 genomes]
rs6989160	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs6992039	0.95[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs6993841	0.90[JPT][hapmap]
rs6995541	0.81[CHB][hapmap]
rs7002282	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7005905	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs7018334	0.82[EUR][1000 genomes]
rs718741	0.82[EUR][1000 genomes]
rs7814142	0.81[EUR][1000 genomes]
rs7818181	0.80[CEU][hapmap]
rs7830317	0.89[EUR][1000 genomes]
rs7830431	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7833945	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7834466	0.89[JPT][hapmap]
rs7836366	0.84[CEU][hapmap]
rs7836833	0.82[ASN][1000 genomes]
rs891556	0.80[EUR][1000 genomes]
rs9969626	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7814757	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
3	chr8:10650000-10676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10657400-10681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
6	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:10657800-10680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:10657800-10680600	Weak transcription	HSMMtube	muscle
9	chr8:10658400-10676000	Weak transcription	HepG2	liver
10	chr8:10658600-10676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:10659400-10676000	Weak transcription	NHLF	lung
12	chr8:10659600-10682400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:10660000-10679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:10660400-10677000	Weak transcription	NHDF-Ad	bronchial
15	chr8:10662600-10676000	Weak transcription	Brain Germinal Matrix	brain
16	chr8:10663000-10681200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:10663000-10681400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:10665400-10675200	Weak transcription	Ovary	ovary
20	chr8:10665400-10678600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:10665400-10680800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:10665600-10676000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:10665600-10680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:10665800-10688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:10666000-10675800	Weak transcription	Fetal Lung	lung
26	chr8:10666400-10678600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
28	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:10667400-10675200	Weak transcription	HSMM	muscle
30	chr8:10667400-10677400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:10668400-10682400	Weak transcription	Colonic Mucosa	Colon
33	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:10668600-10681400	Weak transcription	A549	lung
35	chr8:10669200-10679600	Strong transcription	Dnd41	blood
36	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
37	chr8:10669400-10676800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:10669600-10691800	Strong transcription	GM12878-XiMat	blood
40	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:10669800-10676800	Strong transcription	Aorta	Aorta
42	chr8:10670200-10680800	Weak transcription	Placenta	Placenta
43	chr8:10670200-10692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:10670400-10675200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:10671000-10676200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:10671000-10676600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:10671000-10681000	Weak transcription	Osteobl	bone
49	chr8:10671400-10676800	Strong transcription	Fetal Stomach	stomach
50	chr8:10671400-10679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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