Variant report

Variant	rs2065997
Chromosome Location	chr9:103047171-103047172
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	chr9:103037852..103042243-chr9:103042555..103047658,4	K562	blood:
2	chr9:103039312..103042243-chr9:103045251..103047658,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10117799	0.88[ASN][1000 genomes]
rs10118701	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs10123866	0.88[ASN][1000 genomes]
rs10123913	0.88[ASN][1000 genomes]
rs10124893	0.86[ASN][1000 genomes]
rs10125785	0.86[ASN][1000 genomes]
rs1014652	0.84[CHD][hapmap]
rs10760724	0.83[ASN][1000 genomes]
rs10819739	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10819751	0.83[ASN][1000 genomes]
rs10819759	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.85[ASN][1000 genomes]
rs10819761	0.82[ASN][1000 genomes]
rs10988973	0.84[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap]
rs10989049	0.86[ASN][1000 genomes]
rs10989064	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs10989067	0.86[CHB][hapmap]
rs11789196	0.88[ASN][1000 genomes]
rs12552646	0.84[CEU][hapmap];0.84[CHD][hapmap];0.85[MEX][hapmap]
rs1338121	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1338123	0.83[ASN][1000 genomes]
rs1338124	0.83[ASN][1000 genomes]
rs1338125	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs1338126	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1361668	0.84[CEU][hapmap]
rs1535667	0.89[CEU][hapmap]
rs1539297	0.84[CEU][hapmap]
rs1572607	0.89[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];0.82[EUR][1000 genomes]
rs1930243	1.00[CHD][hapmap]
rs1999877	0.89[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];0.81[EUR][1000 genomes]
rs2057476	0.84[CEU][hapmap]
rs2151131	1.00[CHD][hapmap]
rs2181579	0.84[CEU][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap]
rs2245216	0.82[ASN][1000 genomes]
rs2476439	0.81[AMR][1000 genomes]
rs2476441	0.84[CHD][hapmap]
rs2485745	1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs2491096	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2491098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787361	0.84[CHD][hapmap]
rs2787364	0.89[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];0.82[EUR][1000 genomes]
rs2787365	0.84[CHD][hapmap];0.84[MEX][hapmap]
rs2787366	0.84[CHD][hapmap]
rs2787368	1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs2787369	0.88[ASN][1000 genomes]
rs2787370	0.80[ASN][1000 genomes]
rs2787371	0.86[ASN][1000 genomes]
rs2787372	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2787373	0.85[ASN][1000 genomes]
rs2787374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2787375	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2787377	0.86[ASN][1000 genomes]
rs2787379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2787380	0.85[ASN][1000 genomes]
rs2787381	0.85[ASN][1000 genomes]
rs2787382	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2787383	0.83[ASN][1000 genomes]
rs2787384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2787385	0.82[ASN][1000 genomes]
rs2787386	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787388	0.83[ASN][1000 genomes]
rs2787390	1.00[CHD][hapmap]
rs2787393	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2787395	0.84[CHD][hapmap];0.85[MEX][hapmap]
rs2787396	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2787397	0.91[CHD][hapmap]
rs2806681	0.89[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2806684	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2806685	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2806687	0.89[CEU][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2806688	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2806689	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2806690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2806691	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2806692	0.83[ASN][1000 genomes]
rs2806693	1.00[CHD][hapmap];0.80[ASN][1000 genomes]
rs2806694	0.80[ASN][1000 genomes]
rs2806695	0.82[ASN][1000 genomes]
rs2806696	0.83[ASN][1000 genomes]
rs2806697	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2806699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2806700	0.92[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2806701	0.88[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2806702	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs2806703	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28464821	0.82[ASN][1000 genomes]
rs3813712	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs3923501	0.86[ASN][1000 genomes]
rs4128230	0.83[ASN][1000 genomes]
rs4237194	1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs4237195	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.88[ASN][1000 genomes]
rs4446782	0.86[ASN][1000 genomes]
rs4517187	0.84[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap]
rs4742782	0.88[ASN][1000 genomes]
rs4742783	0.80[ASN][1000 genomes]
rs4742784	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4743392	0.86[ASN][1000 genomes]
rs4743393	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs4743394	0.82[ASN][1000 genomes]
rs4743395	0.86[CHB][hapmap]
rs5029342	0.88[ASN][1000 genomes]
rs5029343	0.86[ASN][1000 genomes]
rs59242794	0.82[ASN][1000 genomes]
rs6479001	0.84[CHD][hapmap]
rs6479002	0.84[CHD][hapmap]
rs6479008	0.85[ASN][1000 genomes]
rs6479009	0.86[ASN][1000 genomes]
rs6479013	1.00[CHD][hapmap]
rs7020988	0.86[ASN][1000 genomes]
rs7025938	0.85[CHD][hapmap];0.82[GIH][hapmap];0.88[ASN][1000 genomes]
rs7035619	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs7048601	0.82[ASN][1000 genomes]
rs7472	0.88[ASN][1000 genomes]
rs7846794	0.84[CHD][hapmap]
rs7849966	0.86[ASN][1000 genomes]
rs7854693	0.88[ASN][1000 genomes]
rs7861003	0.84[CHD][hapmap]
rs7864494	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs7865678	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7874900	1.00[CHD][hapmap]
rs846753	0.84[CHD][hapmap]
rs846756	0.84[CHD][hapmap]
rs846759	0.89[CEU][hapmap]
rs846762	0.89[CEU][hapmap]
rs846766	0.85[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap]
rs914711	1.00[CHD][hapmap]
rs9408998	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs944710	1.00[CHD][hapmap]
rs946054	0.85[ASN][1000 genomes]
rs959893	0.80[ASN][1000 genomes]
rs9775014	0.83[ASN][1000 genomes]
rs9775182	0.86[ASN][1000 genomes]
rs9886877	0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1835721	chr9:102991314-103096666	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2065997	INVS	cis	multi-tissue	Pritchard

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102973000-103053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:102974000-103047600	Weak transcription	Fetal Brain Male	brain
3	chr9:102976800-103047800	Weak transcription	Fetal Heart	heart
4	chr9:102979400-103054600	Weak transcription	NHEK	skin
5	chr9:102987400-103054600	Weak transcription	Gastric	stomach
6	chr9:102989400-103047200	Weak transcription	GM12878-XiMat	blood
7	chr9:102997800-103054400	Weak transcription	Colonic Mucosa	Colon
8	chr9:103009400-103047600	Weak transcription	HUVEC	blood vessel
9	chr9:103013000-103047400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:103016000-103047200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:103022000-103047800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:103026200-103047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:103029000-103053600	Weak transcription	Hela-S3	cervix
14	chr9:103029200-103047600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:103029200-103054600	Weak transcription	Brain Angular Gyrus	brain
16	chr9:103029800-103047400	Weak transcription	HepG2	liver
17	chr9:103034200-103047200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:103034800-103047400	Strong transcription	Primary T cells from cord blood	blood
19	chr9:103035000-103047200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:103039000-103047400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr9:103039400-103047800	Weak transcription	HSMMtube	muscle
22	chr9:103040200-103047600	Weak transcription	HSMM	muscle
23	chr9:103040400-103053000	Weak transcription	NHLF	lung
24	chr9:103040400-103058600	Weak transcription	NH-A	brain
25	chr9:103040800-103047800	Weak transcription	NHDF-Ad	bronchial
26	chr9:103041400-103047600	Strong transcription	Liver	Liver
27	chr9:103042400-103047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:103043400-103047200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:103044000-103047200	Strong transcription	Thymus	Thymus
30	chr9:103044000-103067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:103044200-103048200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:103044200-103048800	Strong transcription	Left Ventricle	heart
33	chr9:103044200-103071200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:103044600-103102400	Weak transcription	Stomach Mucosa	stomach
35	chr9:103044800-103049600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:103044800-103067800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr9:103045200-103047600	Weak transcription	K562	blood
38	chr9:103045200-103053000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:103045800-103047200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:103045800-103047600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr9:103045800-103047800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:103045800-103047800	Strong transcription	Ovary	ovary
43	chr9:103045800-103050800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:103045800-103051200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr9:103045800-103051200	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr9:103045800-103052000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:103045800-103052000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:103045800-103052200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr9:103046000-103047800	Strong transcription	Adipose Nuclei	Adipose
50	chr9:103046000-103048400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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