Variant report

Variant	rs7865257
Chromosome Location	chr9:102715966-102715967
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	chr9:102715867..102717924-chr9:102719638..102722232,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10739795	0.81[ASW][hapmap]
rs12346672	1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs13340694	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529192	0.81[ASW][hapmap]
rs2031034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34037369	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34676979	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712912	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35984438	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4428721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4614054	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479001	0.81[ASW][hapmap]
rs6479002	0.81[ASW][hapmap]
rs67039781	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67506726	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027414	0.81[ASW][hapmap]
rs7033091	0.81[ASW][hapmap]
rs7046365	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746321	0.87[ASN][1000 genomes]
rs72746326	0.87[ASN][1000 genomes]
rs72746345	0.87[ASN][1000 genomes]
rs73501562	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7846794	0.81[ASW][hapmap]
rs7850043	1.00[CHB][hapmap]
rs7861003	0.81[ASW][hapmap]
rs7873746	0.81[ASW][hapmap]
rs846756	0.81[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1050510	chr9:102684318-102748658	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7865257	INVS	cis	multi-tissue	Pritchard

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102669800-102729800	Weak transcription	Small Intestine	intestine
2	chr9:102671200-102719200	Weak transcription	Fetal Heart	heart
3	chr9:102680400-102724800	Weak transcription	HSMM	muscle
4	chr9:102682600-102751400	Weak transcription	NH-A	brain
5	chr9:102684400-102720600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr9:102685000-102731600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr9:102685200-102730200	Weak transcription	NHLF	lung
8	chr9:102686200-102730000	Weak transcription	Colonic Mucosa	Colon
9	chr9:102686400-102723400	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:102686400-102750800	Weak transcription	Esophagus	oesophagus
11	chr9:102686600-102730800	Weak transcription	Ovary	ovary
12	chr9:102686600-102750800	Weak transcription	Gastric	stomach
13	chr9:102686800-102722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:102687800-102722200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:102693000-102723000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:102694000-102721600	Weak transcription	Fetal Stomach	stomach
17	chr9:102698400-102728600	Weak transcription	HMEC	breast
18	chr9:102698400-102728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:102699800-102722000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:102699800-102739800	Weak transcription	K562	blood
21	chr9:102699800-102765800	Weak transcription	Psoas Muscle	Psoas
22	chr9:102700000-102728600	Weak transcription	A549	lung
23	chr9:102700600-102725000	Weak transcription	Brain Anterior Caudate	brain
24	chr9:102701000-102751000	Weak transcription	Fetal Intestine Small	intestine
25	chr9:102704600-102729200	Weak transcription	Hela-S3	cervix
26	chr9:102705000-102751200	Weak transcription	Brain Angular Gyrus	brain
27	chr9:102708400-102744000	Weak transcription	NHDF-Ad	bronchial
28	chr9:102710600-102729800	Weak transcription	Thymus	Thymus
29	chr9:102711400-102765800	Weak transcription	Right Ventricle	heart
30	chr9:102711400-102769200	Weak transcription	Osteobl	bone
31	chr9:102711600-102723200	Weak transcription	Fetal Kidney	kidney
32	chr9:102711800-102717000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:102711800-102723200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:102711800-102749000	Weak transcription	Brain Germinal Matrix	brain
35	chr9:102712000-102720000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:102712000-102723200	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:102712000-102728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:102712200-102722800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr9:102712200-102723000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:102712200-102732400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:102712200-102765600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:102712400-102720200	Weak transcription	Brain Substantia Nigra	brain
43	chr9:102712400-102729800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr9:102712400-102751000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:102712600-102728600	Weak transcription	NHEK	skin
46	chr9:102712800-102730400	Weak transcription	Lung	lung
47	chr9:102713200-102716200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:102713200-102765600	Weak transcription	HSMMtube	muscle
49	chr9:102713400-102716000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr9:102713400-102716200	Strong transcription	Liver	Liver

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