Variant report

Variant	rs7847332
Chromosome Location	chr9:100093102-100093103
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10115798	0.88[EUR][1000 genomes]
rs10116404	0.81[EUR][1000 genomes]
rs10116963	0.84[YRI][hapmap]
rs10217329	0.81[EUR][1000 genomes]
rs10435866	0.90[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733584	0.80[EUR][1000 genomes]
rs10733603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10739337	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10739365	0.91[EUR][1000 genomes]
rs10759542	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10759547	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs10759605	0.92[EUR][1000 genomes]
rs10759610	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs10759619	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10759643	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10817300	0.91[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs10817306	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs10817361	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10817448	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10817492	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10817513	0.86[EUR][1000 genomes]
rs10817515	0.86[EUR][1000 genomes]
rs10981362	0.84[EUR][1000 genomes]
rs10981528	0.92[EUR][1000 genomes]
rs10981537	0.92[EUR][1000 genomes]
rs10981551	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10981557	0.96[EUR][1000 genomes]
rs10981560	0.91[CEU][hapmap];0.86[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs10981625	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981661	0.85[LWK][hapmap]
rs10981664	0.85[LWK][hapmap]
rs10981676	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10981848	0.88[EUR][1000 genomes]
rs10981851	0.88[EUR][1000 genomes]
rs10981889	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10981916	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs12378801	0.88[EUR][1000 genomes]
rs12683119	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs12683933	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1462086	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1462087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462092	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs1531439	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs17331748	0.88[EUR][1000 genomes]
rs1841683	0.85[AFR][1000 genomes]
rs1870859	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2061634	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061635	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2255135	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2255139	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2255244	0.91[EUR][1000 genomes]
rs2401382	0.91[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2401383	0.85[LWK][hapmap]
rs2447287	0.91[EUR][1000 genomes]
rs2447288	0.92[EUR][1000 genomes]
rs2447289	0.92[EUR][1000 genomes]
rs2447290	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2487874	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2487875	0.90[EUR][1000 genomes]
rs2502646	0.92[EUR][1000 genomes]
rs2615144	0.86[CEU][hapmap];0.92[EUR][1000 genomes]
rs2795363	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2795366	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2795369	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2795370	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2818236	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2818237	0.91[EUR][1000 genomes]
rs2818240	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2818241	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2818242	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs2818244	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs2859564	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2888960	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs3953688	0.88[EUR][1000 genomes]
rs3994559	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs3994561	0.91[EUR][1000 genomes]
rs3994562	0.87[EUR][1000 genomes]
rs4345679	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433262	0.81[EUR][1000 genomes]
rs4437755	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4524907	0.87[EUR][1000 genomes]
rs4615708	0.91[EUR][1000 genomes]
rs4645658	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742683	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs4742684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4743067	0.88[EUR][1000 genomes]
rs4743074	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4743080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56077563	0.90[EUR][1000 genomes]
rs56306467	0.81[EUR][1000 genomes]
rs6478043	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs6478044	0.89[EUR][1000 genomes]
rs6478048	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs6478051	0.89[EUR][1000 genomes]
rs6478054	0.91[EUR][1000 genomes]
rs6478055	0.91[EUR][1000 genomes]
rs6478059	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7020002	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs7023087	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7026287	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7026893	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs7029749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7030698	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7033212	0.89[EUR][1000 genomes]
rs7033480	0.83[EUR][1000 genomes]
rs7033642	0.89[EUR][1000 genomes]
rs7038353	0.83[EUR][1000 genomes]
rs725228	0.91[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs725229	0.92[EUR][1000 genomes]
rs752243	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7850473	0.89[EUR][1000 genomes]
rs7855385	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs7855956	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7860264	0.89[EUR][1000 genomes]
rs7863530	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs7867330	0.91[EUR][1000 genomes]
rs7868052	0.83[EUR][1000 genomes]
rs7868295	0.83[EUR][1000 genomes]
rs7875296	0.83[EUR][1000 genomes]
rs9299202	0.91[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs9408859	0.92[EUR][1000 genomes]
rs9409139	0.95[CEU][hapmap];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762823	chr9:100083872-100105782	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7847332	RP11-520B13.4	cis	Esophagus Muscularis	GTEx
rs7847332	RP11-23J9.4	cis	Artery Tibial	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100069600-100094400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:100070000-100093800	Weak transcription	Psoas Muscle	Psoas
3	chr9:100070000-100098000	Weak transcription	Small Intestine	intestine
4	chr9:100070000-100100200	Weak transcription	Fetal Heart	heart
5	chr9:100070000-100131400	Weak transcription	Fetal Kidney	kidney
6	chr9:100070200-100095000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:100070400-100095200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:100071000-100094400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:100071600-100093400	Strong transcription	Brain Anterior Caudate	brain
10	chr9:100071600-100093800	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr9:100071600-100093800	Strong transcription	Ovary	ovary
12	chr9:100071600-100094600	Strong transcription	Brain Angular Gyrus	brain
13	chr9:100071800-100093400	Strong transcription	Adipose Nuclei	Adipose
14	chr9:100071800-100093600	Strong transcription	Left Ventricle	heart
15	chr9:100076000-100093200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:100076000-100093600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:100077000-100106400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr9:100077000-100140800	Weak transcription	Fetal Brain Male	brain
19	chr9:100080400-100126400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:100083800-100098400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr9:100083800-100124000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:100084200-100093800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:100084400-100093600	Strong transcription	Fetal Muscle Leg	muscle
24	chr9:100084600-100093600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:100085600-100099800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:100085600-100100200	Weak transcription	Primary B cells from cord blood	blood
27	chr9:100086400-100110400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:100086600-100121600	Weak transcription	Right Ventricle	heart
29	chr9:100086600-100132000	Weak transcription	Thymus	Thymus
30	chr9:100086800-100093600	Strong transcription	Aorta	Aorta
31	chr9:100086800-100104000	Weak transcription	Dnd41	blood
32	chr9:100088000-100126200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr9:100088200-100127000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:100088400-100098600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:100088600-100128600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:100088600-100132800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr9:100088800-100094200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:100088800-100103800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:100088800-100121400	Weak transcription	Gastric	stomach
40	chr9:100089000-100093200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr9:100089000-100093200	Weak transcription	Pancreas	Pancrea
42	chr9:100089000-100104000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:100089000-100104000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:100089200-100102800	Weak transcription	Fetal Intestine Small	intestine
45	chr9:100089200-100128200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr9:100090000-100093800	Strong transcription	Brain Hippocampus Middle	brain
47	chr9:100090200-100093800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:100090600-100104200	Weak transcription	Liver	Liver
49	chr9:100090600-100119000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:100090600-100133800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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