Variant report

Variant	rs10903330
Chromosome Location	chr8:10673104-10673105
allele	A/G
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: 68 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10089615	0.94[JPT][hapmap]
rs10093774	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs10097283	0.89[JPT][hapmap];0.80[EUR][1000 genomes]
rs10098699	0.80[CEU][hapmap];0.90[EUR][1000 genomes]
rs10100265	0.95[JPT][hapmap]
rs10105487	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10481451	0.80[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs1115866	0.94[JPT][hapmap]
rs11250073	0.94[JPT][hapmap]
rs11250074	0.95[JPT][hapmap]
rs11250077	0.80[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs11250078	0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11250079	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs11250080	0.83[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11993903	0.87[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs12542888	0.85[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs12676417	0.80[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17152520	0.80[CHD][hapmap]
rs1991651	0.84[GIH][hapmap];0.84[TSI][hapmap]
rs2116095	0.95[JPT][hapmap]
rs2277130	0.90[EUR][1000 genomes]
rs2409651	0.81[CHB][hapmap]
rs2409658	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2409663	0.95[JPT][hapmap]
rs2409669	0.81[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap]
rs2898248	0.95[JPT][hapmap]
rs34653170	0.90[EUR][1000 genomes]
rs35091929	0.87[EUR][1000 genomes]
rs4240670	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4321967	0.95[JPT][hapmap]
rs4504595	0.82[CEU][hapmap]
rs4551304	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4840516	0.91[ASW][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4840517	0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4841452	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs6601521	0.95[JPT][hapmap]
rs6601522	0.95[JPT][hapmap];0.83[MEX][hapmap]
rs6601523	0.90[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs6601527	0.87[ASN][1000 genomes]
rs6601529	0.91[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6601530	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6980805	0.80[CEU][hapmap];0.90[EUR][1000 genomes]
rs6987199	0.81[ASN][1000 genomes]
rs6989160	0.83[EUR][1000 genomes]
rs6992039	0.83[CHB][hapmap]
rs6993841	0.95[JPT][hapmap];0.87[MEX][hapmap]
rs6995541	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs7002282	0.80[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs752446	0.95[JPT][hapmap]
rs7814757	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]
rs7830317	0.81[EUR][1000 genomes]
rs7830431	0.81[EUR][1000 genomes]
rs7833945	0.83[EUR][1000 genomes]
rs7834466	0.95[JPT][hapmap]
rs7836833	0.87[ASN][1000 genomes]
rs9969626	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10903330	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs10903330	PRSS55	cis	cerebellum	SCAN
rs10903330	FLJ10661	cis	cerebellum	SCAN
rs10903330	CTSB	cis	cerebellum	SCAN
rs10903330	DEFB136	cis	parietal	SCAN
rs10903330	MFHAS1	cis	cerebellum	SCAN

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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