Variant report

Variant	rs7640134
Chromosome Location	chr3:20183010-20183011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs11128939	0.81[ASN][1000 genomes]
rs11128941	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11128942	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1122135	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12486706	0.87[EUR][1000 genomes]
rs12637234	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12639214	0.81[AMR][1000 genomes]
rs13076325	0.81[ASN][1000 genomes]
rs13076918	0.83[ASN][1000 genomes]
rs1567200	0.86[EUR][1000 genomes]
rs17006682	0.89[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17006721	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17006733	0.89[CEU][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17006739	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17797971	0.88[CEU][hapmap]
rs2292228	0.89[CEU][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2293141	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2365792	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2365794	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3804567	0.81[AMR][1000 genomes]
rs3804568	0.89[CEU][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3804570	0.81[AMR][1000 genomes]
rs3804572	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3811674	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4076369	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41276509	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4132121	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4241546	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4308300	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4419399	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4586829	0.81[ASN][1000 genomes]
rs4858155	0.82[ASN][1000 genomes]
rs4858157	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4858159	0.86[EUR][1000 genomes]
rs4858160	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4858762	0.82[ASN][1000 genomes]
rs4858764	0.82[ASN][1000 genomes]
rs4858766	0.83[ASN][1000 genomes]
rs4858770	0.89[CEU][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4858775	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4858776	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4858777	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57204823	0.87[EUR][1000 genomes]
rs58206832	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58371809	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58409904	0.86[EUR][1000 genomes]
rs58613937	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59189930	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59471185	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60612263	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61206920	0.85[EUR][1000 genomes]
rs61207556	0.87[EUR][1000 genomes]
rs61729306	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62241665	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62241671	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62241672	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62241673	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62241699	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62241703	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62241706	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62241707	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62241708	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62241714	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62241752	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62241753	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62243138	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62243461	0.80[EUR][1000 genomes]
rs62243480	0.84[EUR][1000 genomes]
rs62243482	0.82[EUR][1000 genomes]
rs62243502	0.82[EUR][1000 genomes]
rs62243503	0.81[EUR][1000 genomes]
rs6419825	0.84[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6419826	0.81[ASN][1000 genomes]
rs6550413	0.89[CEU][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6550419	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66968685	0.86[EUR][1000 genomes]
rs67253443	0.86[EUR][1000 genomes]
rs6761987	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6765791	0.91[JPT][hapmap]
rs6767445	0.82[EUR][1000 genomes]
rs6770526	0.86[EUR][1000 genomes]
rs6774000	0.82[AMR][1000 genomes]
rs6774152	0.81[EUR][1000 genomes]
rs6776870	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6777193	0.82[EUR][1000 genomes]
rs6778969	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6782533	0.87[EUR][1000 genomes]
rs6788814	0.83[ASN][1000 genomes]
rs67949984	0.86[EUR][1000 genomes]
rs68098782	0.83[EUR][1000 genomes]
rs7620481	0.89[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7622463	0.81[ASN][1000 genomes]
rs7622992	0.89[CEU][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7623136	0.82[EUR][1000 genomes]
rs7629055	0.90[AMR][1000 genomes]
rs7630581	0.82[ASN][1000 genomes]
rs7647946	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs906468	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9310606	0.81[ASN][1000 genomes]
rs9310607	0.83[ASN][1000 genomes]
rs937886	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9838186	0.81[EUR][1000 genomes]
rs9838851	0.86[EUR][1000 genomes]
rs9844817	0.83[ASN][1000 genomes]
rs9845960	0.84[EUR][1000 genomes]
rs9917785	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv1829018	chr3:20116077-20596244	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	esv1827700	chr3:20119716-20489086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv1830036	chr3:20121828-20278275	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	esv1830599	chr3:20121828-20375643	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	esv1828816	chr3:20136508-20389045	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	esv3394910	chr3:20150394-20203576	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	esv3334928	chr3:20150414-20203546	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	esv1832674	chr3:20152772-20605302	Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	esv1831853	chr3:20157077-20615273	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	esv1833208	chr3:20157077-20638228	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
20	esv2422249	chr3:20163608-20626956	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
21	esv1826144	chr3:20164282-20638228	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
22	nsv1013532	chr3:20172889-20305612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
23	nsv536513	chr3:20172889-20305612	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:20142600-20189400	Weak transcription	Fetal Brain Male	brain
4	chr3:20147600-20194200	Weak transcription	Dnd41	blood
5	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
6	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:20162200-20183400	Weak transcription	Gastric	stomach
8	chr3:20162200-20184000	Weak transcription	Right Ventricle	heart
9	chr3:20162800-20198200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
11	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:20167800-20196600	Weak transcription	K562	blood
13	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:20168000-20183600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
16	chr3:20169400-20184400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:20169600-20183400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:20169600-20183400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:20169600-20189600	Weak transcription	Fetal Intestine Large	intestine
20	chr3:20169600-20189600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:20169600-20198400	Weak transcription	Aorta	Aorta
22	chr3:20169600-20198400	Weak transcription	Pancreas	Pancrea
23	chr3:20169800-20183600	Weak transcription	Brain Angular Gyrus	brain
24	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr3:20170400-20184800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:20174800-20190000	Weak transcription	Placenta	Placenta
28	chr3:20175800-20196800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr3:20177800-20195200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:20178200-20185800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr3:20178200-20185800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:20178200-20195200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:20178400-20185400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:20178400-20185600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:20178400-20186000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:20178400-20191800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:20179000-20183400	Weak transcription	Psoas Muscle	Psoas
38	chr3:20179000-20196400	Weak transcription	HUVEC	blood vessel
39	chr3:20179400-20197600	Weak transcription	Right Atrium	heart
40	chr3:20180400-20185000	Strong transcription	Fetal Thymus	thymus
41	chr3:20180600-20184600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:20181000-20183600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr3:20181400-20185600	Strong transcription	Primary B cells from cord blood	blood
44	chr3:20181400-20185600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:20181400-20185800	Strong transcription	Primary T cells from cord blood	blood
46	chr3:20181400-20195600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr3:20181600-20184000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:20181600-20185000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr3:20181600-20185200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:20181600-20185600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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