Variant report

Variant	rs2787394
Chromosome Location	chr9:103007414-103007415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103005871..103007876-chr9:103009545..103011274,2	MCF-7	breast:
2	chr9:103006938..103009209-chr9:103023214..103024731,2	K562	blood:
3	chr9:102966427..102968883-chr9:103006907..103008626,2	K562	blood:

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10116798	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10117150	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10125785	0.81[ASN][1000 genomes]
rs1014651	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1014652	0.88[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10739795	0.82[JPT][hapmap];0.86[YRI][hapmap]
rs10739796	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10760711	0.80[ASN][1000 genomes]
rs10760720	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10819714	0.80[ASN][1000 genomes]
rs10819715	0.80[ASN][1000 genomes]
rs10819737	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10819739	0.87[ASN][1000 genomes]
rs10819751	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10988945	0.80[ASN][1000 genomes]
rs10988963	0.85[AMR][1000 genomes]
rs10988968	0.82[ASN][1000 genomes]
rs10988969	0.82[ASN][1000 genomes]
rs10988973	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs10988974	0.80[ASN][1000 genomes]
rs10989009	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10989049	0.81[ASN][1000 genomes]
rs1099909	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1099910	0.81[ASN][1000 genomes]
rs12336751	0.89[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12346672	0.84[YRI][hapmap]
rs12552646	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12685650	0.80[ASN][1000 genomes]
rs13301295	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1338119	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1338123	0.83[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1338124	0.83[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1338125	0.92[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1342147	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1361668	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1415926	0.89[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1529191	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1529192	0.82[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs1529193	0.85[AMR][1000 genomes]
rs1534726	1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1535667	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1539297	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1572607	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1578646	0.80[ASN][1000 genomes]
rs1891334	0.88[AMR][1000 genomes]
rs1930243	0.82[JPT][hapmap]
rs1999877	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2057476	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2093696	0.80[ASN][1000 genomes]
rs2096158	0.85[AMR][1000 genomes]
rs2181579	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2245216	0.93[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2476439	0.87[ASN][1000 genomes]
rs2476441	0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2476442	0.83[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2485745	0.82[CEU][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2485746	0.88[AMR][1000 genomes]
rs2491095	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2491096	0.87[ASN][1000 genomes]
rs2761053	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2761056	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2787361	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2787363	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787364	0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2787365	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2787366	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2787368	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2787369	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs2787371	0.83[CEU][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2787372	0.82[CEU][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2787373	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2787375	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2787377	0.81[ASN][1000 genomes]
rs2787380	0.83[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2787381	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2787383	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2787385	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2787388	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2787391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787393	0.96[ASN][1000 genomes]
rs2787395	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787396	0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs2787397	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2806681	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2806682	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2806683	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2806684	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2806685	0.93[ASN][1000 genomes]
rs2806687	0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs2806688	0.94[ASN][1000 genomes]
rs2806692	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2806693	0.82[CEU][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2806694	0.83[CEU][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2806695	0.93[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2806696	0.83[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2806702	0.81[ASN][1000 genomes]
rs2806703	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs28448789	0.85[AMR][1000 genomes]
rs3813712	0.84[CEU][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3923501	0.81[ASN][1000 genomes]
rs41346545	0.80[ASN][1000 genomes]
rs4446782	0.81[ASN][1000 genomes]
rs4517187	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4742779	0.80[ASN][1000 genomes]
rs4743382	0.80[ASN][1000 genomes]
rs4743384	0.83[AMR][1000 genomes]
rs4743386	0.80[ASN][1000 genomes]
rs4743392	0.81[ASN][1000 genomes]
rs5029343	0.81[ASN][1000 genomes]
rs6478995	0.82[AMR][1000 genomes]
rs6479001	0.82[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes]
rs6479002	0.82[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes]
rs6479009	0.81[ASN][1000 genomes]
rs7018981	0.82[ASN][1000 genomes]
rs7020988	0.81[ASN][1000 genomes]
rs7022493	0.85[AMR][1000 genomes]
rs7025300	0.82[AMR][1000 genomes]
rs7037362	0.82[AMR][1000 genomes]
rs7042194	0.80[ASN][1000 genomes]
rs7044219	0.85[AMR][1000 genomes]
rs7846794	0.82[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7847213	0.82[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7849966	0.81[ASN][1000 genomes]
rs7856844	0.87[ASN][1000 genomes]
rs7858606	0.80[ASN][1000 genomes]
rs7859492	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7861003	0.85[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7864494	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs846751	0.91[AMR][1000 genomes]
rs846752	0.89[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs846753	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs846754	0.80[ASN][1000 genomes]
rs846755	0.82[ASN][1000 genomes]
rs846756	0.82[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs846758	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs846759	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs846761	0.82[JPT][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs846762	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs846763	0.81[ASN][1000 genomes]
rs846765	0.93[AMR][1000 genomes]
rs846766	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs846768	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs846769	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs846770	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs860171	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs863668	0.87[ASN][1000 genomes]
rs9299337	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9408995	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9409325	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs942163	0.80[ASN][1000 genomes]
rs946054	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs9695692	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9775182	0.81[ASN][1000 genomes]
rs9886877	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	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
rs2787394	INVS	cis	multi-tissue	Pritchard

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102958800-103014400	Weak transcription	Hela-S3	cervix
2	chr9:102972400-103017200	Weak transcription	Spleen	Spleen
3	chr9:102972400-103035200	Weak transcription	Esophagus	oesophagus
4	chr9:102972600-103027200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:102972600-103046600	Weak transcription	Psoas Muscle	Psoas
6	chr9:102973000-103008000	Weak transcription	HUVEC	blood vessel
7	chr9:102973000-103014600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:102973000-103027400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr9:102973000-103053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:102974000-103014000	Weak transcription	Brain Substantia Nigra	brain
11	chr9:102974000-103014600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:102974000-103047600	Weak transcription	Fetal Brain Male	brain
13	chr9:102974200-103014600	Weak transcription	Brain Angular Gyrus	brain
14	chr9:102975800-103045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:102976800-103047800	Weak transcription	Fetal Heart	heart
16	chr9:102977000-103014600	Weak transcription	NH-A	brain
17	chr9:102978400-103013000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:102979400-103054600	Weak transcription	NHEK	skin
19	chr9:102984000-103014600	Weak transcription	HSMMtube	muscle
20	chr9:102985800-103014400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:102986600-103018800	Weak transcription	Small Intestine	intestine
22	chr9:102987400-103014600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr9:102987400-103045800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:102987400-103054600	Weak transcription	Gastric	stomach
25	chr9:102989400-103014600	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:102989400-103047200	Weak transcription	GM12878-XiMat	blood
27	chr9:102989600-103011400	Weak transcription	Fetal Kidney	kidney
28	chr9:102989600-103014400	Weak transcription	Osteobl	bone
29	chr9:102989600-103027600	Weak transcription	A549	lung
30	chr9:102989800-103008600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:102989800-103009200	Weak transcription	Colon Smooth Muscle	Colon
32	chr9:102989800-103014600	Weak transcription	Placenta	Placenta
33	chr9:102990200-103014600	Weak transcription	Brain Anterior Caudate	brain
34	chr9:102991000-103016600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:102991400-103014400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr9:102992400-103014600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:102992400-103027200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:102992600-103039000	Weak transcription	NHDF-Ad	bronchial
39	chr9:102994800-103046600	Weak transcription	Pancreas	Pancrea
40	chr9:102995000-103014400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:102997800-103054400	Weak transcription	Colonic Mucosa	Colon
42	chr9:102999600-103009200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr9:102999600-103014000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr9:102999600-103027400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:102999800-103012600	Weak transcription	Primary T cells from cord blood	blood
46	chr9:102999800-103013200	Weak transcription	Fetal Brain Female	brain
47	chr9:102999800-103014600	Weak transcription	Thymus	Thymus
48	chr9:102999800-103020600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:102999800-103028000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:102999800-103035200	Weak transcription	Right Ventricle	heart

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