Variant report

Variant	rs2991315
Chromosome Location	chr9:3329838-3329839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10429463	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1147822	0.88[CHB][hapmap]
rs11998979	0.82[JPT][hapmap]
rs12004744	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs12350916	0.86[ASN][1000 genomes]
rs13284120	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13285170	0.83[EUR][1000 genomes]
rs13296552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1443205	0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs17658838	0.88[CHB][hapmap]
rs17715160	0.82[CHB][hapmap]
rs17715317	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs17715329	0.91[ASN][1000 genomes]
rs2274487	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2920364	1.00[ASN][1000 genomes]
rs2920366	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2920368	0.98[ASN][1000 genomes]
rs2920369	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2920370	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs2920375	0.82[ASN][1000 genomes]
rs2920376	1.00[CEU][hapmap];1.00[CHB][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]
rs2920377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2920378	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2920379	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2920380	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2920381	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2920382	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2920383	0.92[ASN][1000 genomes]
rs2986678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2986679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2986680	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2986684	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2986686	0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2986687	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2986688	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2986690	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2986691	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2986693	0.88[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2986694	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2986695	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2986696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2986697	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs2986698	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2986699	0.95[ASN][1000 genomes]
rs2986700	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2986701	1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs2986702	1.00[ASN][1000 genomes]
rs2986703	0.90[ASN][1000 genomes]
rs2991297	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2991298	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2991300	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2991301	0.89[CHB][hapmap];0.82[JPT][hapmap];0.98[ASN][1000 genomes]
rs2991302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2991304	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2991305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs2991306	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2991307	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs2991308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2991309	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2991310	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs2991311	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs2991314	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991316	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2991317	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2991318	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2991319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2991320	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2991321	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2991322	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2991323	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs3012670	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs3012672	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs3012686	0.91[JPT][hapmap]
rs3012688	0.90[JPT][hapmap]
rs3012692	0.89[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs3012693	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs3012694	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs3012695	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs3012696	0.88[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs3012697	0.88[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3012700	0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs3012701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3012702	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3012705	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3012706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3012707	0.89[ASN][1000 genomes]
rs3012708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3012709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3012710	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs3012711	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3012712	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs3012713	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4008965	0.98[ASN][1000 genomes]
rs4495486	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs490961	0.88[CHB][hapmap]
rs494348	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs506149	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs515913	0.82[JPT][hapmap]
rs57295144	0.90[ASN][1000 genomes]
rs59378342	0.90[ASN][1000 genomes]
rs594370	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs617047	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs617992	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs619401	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs625941	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs633893	0.88[CHB][hapmap]
rs6476395	0.85[ASN][1000 genomes]
rs656686	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs658123	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs66573713	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7025201	1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs7025328	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7035429	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7044448	0.89[ASN][1000 genomes]
rs71506635	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71506636	0.84[ASN][1000 genomes]
rs72699033	0.85[ASN][1000 genomes]
rs72699037	0.87[ASN][1000 genomes]
rs72699039	0.89[ASN][1000 genomes]
rs72699041	0.86[ASN][1000 genomes]
rs72699050	0.89[ASN][1000 genomes]
rs72699051	0.92[ASN][1000 genomes]
rs72699063	0.87[ASN][1000 genomes]
rs72699067	0.84[ASN][1000 genomes]
rs72699069	0.84[ASN][1000 genomes]
rs7850653	0.89[CHB][hapmap];0.90[JPT][hapmap];0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7850660	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7855364	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7859468	0.98[ASN][1000 genomes]
rs7860020	0.90[ASN][1000 genomes]
rs7861667	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7861699	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7871277	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9408234	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892086	chr9:3012276-3410838	Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1032921	chr9:3139007-3502815	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539940	chr9:3139007-3502815	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv466090	chr9:3237378-3349487	Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv613145	chr9:3237378-3349487	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv531566	chr9:3288211-3545454	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv892089	chr9:3290569-3578094	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv916259	chr9:3308176-4296711	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv1034280	chr9:3319718-3491987	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv539942	chr9:3319718-3491987	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1028815	chr9:3319718-3584455	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3244200-3338400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:3265600-3332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr9:3277400-3337400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:3288200-3378400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr9:3291400-3338600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:3293600-3352600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:3306800-3337400	Weak transcription	Left Ventricle	heart
8	chr9:3308600-3337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:3309400-3350400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:3310200-3337000	Weak transcription	Primary B cells from cord blood	blood
11	chr9:3311600-3338800	Weak transcription	Thymus	Thymus
12	chr9:3313200-3337000	Weak transcription	Aorta	Aorta
13	chr9:3313400-3352400	Weak transcription	Primary T cells from cord blood	blood
14	chr9:3318800-3337400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr9:3319000-3347800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr9:3319600-3330200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:3319600-3337200	Weak transcription	Brain Anterior Caudate	brain
18	chr9:3319800-3353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr9:3320600-3338600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:3320600-3347200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:3322600-3348800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr9:3323400-3334000	Weak transcription	Fetal Intestine Small	intestine
23	chr9:3323800-3342000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:3324000-3332600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:3324000-3337200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:3324800-3337400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:3325000-3332800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:3326400-3331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:3327000-3332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:3327400-3331400	Weak transcription	Fetal Brain Male	brain
31	chr9:3327800-3337000	Weak transcription	Ovary	ovary
32	chr9:3328000-3330200	Weak transcription	Fetal Thymus	thymus
33	chr9:3328000-3330800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:3328200-3332000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr9:3328400-3331000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:3328400-3344400	Weak transcription	Fetal Lung	lung
37	chr9:3328600-3337400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:3328800-3331800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:3328800-3332800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:3329000-3331200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:3329000-3334400	Enhancers	HUVEC	blood vessel
42	chr9:3329400-3332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr9:3329600-3330400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:3329600-3330600	Weak transcription	Osteobl	bone
45	chr9:3329600-3332600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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