Variant report

Variant	rs1031388
Chromosome Location	chr8:96049684-96049685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96048589..96050273-chr8:96050765..96052626,2	MCF-7	breast:
2	chr8:96041538..96045239-chr8:96047596..96052623,5	K562	blood:
3	chr8:96047883..96051968-chr8:96052187..96054667,4	K562	blood:
4	chr8:96047784..96050061-chr8:96056115..96059105,2	K562	blood:
5	chr8:96047716..96050435-chr8:96257562..96260562,3	MCF-7	breast:
6	chr8:96035327..96037594-chr8:96047662..96049951,2	K562	blood:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10086541	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10092003	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10093594	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10096455	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10097930	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10098197	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10098453	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10100089	0.93[ASN][1000 genomes]
rs10105437	1.00[ASN][1000 genomes]
rs10106491	1.00[ASN][1000 genomes]
rs10111154	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10111300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10112230	1.00[ASN][1000 genomes]
rs10113545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10504939	1.00[CHB][hapmap]
rs11774085	0.93[ASN][1000 genomes]
rs11776189	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11777353	1.00[CHB][hapmap]
rs11779506	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11779698	1.00[CHB][hapmap]
rs11780931	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11781001	1.00[ASN][1000 genomes]
rs11781040	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11781429	1.00[CHB][hapmap]
rs11781757	1.00[CHB][hapmap]
rs11783522	1.00[CHB][hapmap]
rs11783941	1.00[CHB][hapmap]
rs11784178	0.93[ASN][1000 genomes]
rs11786380	0.93[ASN][1000 genomes]
rs11786389	1.00[CHB][hapmap]
rs11786878	1.00[ASN][1000 genomes]
rs12056517	1.00[CHB][hapmap]
rs13250762	1.00[CHB][hapmap]
rs13279040	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1545480	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16917081	1.00[CHB][hapmap]
rs16917082	1.00[CHB][hapmap]
rs16917093	1.00[CHB][hapmap]
rs16917224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16917233	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17359493	1.00[CHB][hapmap]
rs17665737	1.00[CHB][hapmap]
rs2599711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2599713	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599714	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599715	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678823	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678829	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28363725	0.93[ASN][1000 genomes]
rs28378156	0.93[ASN][1000 genomes]
rs28406132	0.93[ASN][1000 genomes]
rs28419772	0.93[ASN][1000 genomes]
rs28440026	0.93[ASN][1000 genomes]
rs28477467	1.00[ASN][1000 genomes]
rs28496357	0.93[ASN][1000 genomes]
rs28616734	0.93[ASN][1000 genomes]
rs28651964	0.93[ASN][1000 genomes]
rs28712702	0.93[ASN][1000 genomes]
rs34700722	0.93[ASN][1000 genomes]
rs35518242	0.87[ASN][1000 genomes]
rs4323442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56901035	1.00[ASN][1000 genomes]
rs57925408	0.93[ASN][1000 genomes]
rs6471505	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6471506	0.90[ASN][1000 genomes]
rs6651271	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6651272	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6985880	0.93[ASN][1000 genomes]
rs6989862	0.93[ASN][1000 genomes]
rs7002940	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7008542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs71532343	0.87[ASN][1000 genomes]
rs73276406	0.93[ASN][1000 genomes]
rs73276417	0.93[ASN][1000 genomes]
rs73276437	1.00[ASN][1000 genomes]
rs73276439	1.00[ASN][1000 genomes]
rs73276444	1.00[ASN][1000 genomes]
rs7812312	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7818688	0.93[ASN][1000 genomes]
rs7826046	0.83[ASN][1000 genomes]
rs7826196	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7832570	0.93[ASN][1000 genomes]
rs7842703	0.83[ASN][1000 genomes]
rs7842715	0.90[ASN][1000 genomes]
rs9297950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9297951	1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv13359	chr8:96049101-96054739	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1031388	C8orf38	Cis_1M	lymphoblastoid	RTeQTL
rs1031388	INTS8	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96037800-96070200	Weak transcription	Aorta	Aorta
2	chr8:96038000-96063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:96038200-96050200	Weak transcription	Spleen	Spleen
4	chr8:96038200-96054400	Weak transcription	Fetal Kidney	kidney
5	chr8:96038200-96058800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:96038200-96059200	Weak transcription	Right Ventricle	heart
7	chr8:96038200-96061000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:96038200-96061200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:96038200-96061200	Weak transcription	Psoas Muscle	Psoas
10	chr8:96038200-96072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
12	chr8:96038400-96054000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:96038400-96054000	Weak transcription	HUVEC	blood vessel
14	chr8:96038400-96054200	Weak transcription	Fetal Heart	heart
15	chr8:96038400-96054200	Weak transcription	NH-A	brain
16	chr8:96038400-96054200	Weak transcription	NHDF-Ad	bronchial
17	chr8:96038400-96054400	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:96038400-96055000	Weak transcription	HSMMtube	muscle
19	chr8:96038400-96060600	Weak transcription	NHLF	lung
20	chr8:96038400-96061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:96038400-96063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:96038400-96066800	Weak transcription	Stomach Mucosa	stomach
23	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:96038600-96054400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:96038600-96054400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:96038600-96059200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:96038600-96059800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:96038600-96061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:96038600-96061200	Weak transcription	Small Intestine	intestine
30	chr8:96038800-96053000	Weak transcription	HMEC	breast
31	chr8:96038800-96058800	Weak transcription	Fetal Brain Male	brain
32	chr8:96039200-96050200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:96039200-96055200	Weak transcription	Esophagus	oesophagus
34	chr8:96039200-96061000	Weak transcription	Pancreas	Pancrea
35	chr8:96041600-96054400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:96042400-96051200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:96042800-96072200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:96043600-96063600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr8:96044200-96050400	Strong transcription	Fetal Intestine Large	intestine
40	chr8:96044200-96059800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:96044200-96060600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr8:96044200-96062600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:96044200-96071800	Strong transcription	Dnd41	blood
44	chr8:96044400-96050200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:96044400-96054800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:96044400-96063200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr8:96044400-96066600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:96044400-96066800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:96044600-96065200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:96044800-96049800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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