Variant report

Variant	rs7164709
Chromosome Location	chr15:44640866-44640867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10152710	0.88[EUR][1000 genomes]
rs1021800	1.00[GIH][hapmap];0.88[EUR][1000 genomes]
rs10467977	0.94[EUR][1000 genomes]
rs12591178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12591581	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12591811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592995	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12593125	0.94[EUR][1000 genomes]
rs12593325	0.88[EUR][1000 genomes]
rs12593686	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594110	1.00[CEU][hapmap];0.88[GIH][hapmap];0.88[EUR][1000 genomes]
rs12594139	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594167	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12594621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594746	0.94[EUR][1000 genomes]
rs12595484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17551416	0.88[EUR][1000 genomes]
rs2055061	0.94[EUR][1000 genomes]
rs2288341	0.88[GIH][hapmap];0.88[EUR][1000 genomes]
rs2288342	0.94[EUR][1000 genomes]
rs2303577	0.88[EUR][1000 genomes]
rs2303578	0.82[EUR][1000 genomes]
rs2412883	0.94[EUR][1000 genomes]
rs2412909	0.94[EUR][1000 genomes]
rs2433350	1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs2555353	0.87[ASW][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.94[EUR][1000 genomes]
rs2556566	0.81[ASW][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs2556567	0.88[EUR][1000 genomes]
rs28508235	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28561508	0.94[EUR][1000 genomes]
rs2899113	0.88[EUR][1000 genomes]
rs35555389	0.94[EUR][1000 genomes]
rs3784565	1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[EUR][1000 genomes]
rs3784567	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs3809471	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3816928	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs3986142	0.87[ASW][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs3986143	0.92[JPT][hapmap];0.94[EUR][1000 genomes]
rs4146283	0.94[ASW][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs4415978	0.94[EUR][1000 genomes]
rs4477677	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4577056	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4924746	0.96[ASN][1000 genomes]
rs57270586	0.94[EUR][1000 genomes]
rs58956090	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59230801	0.94[EUR][1000 genomes]
rs59997416	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60003667	0.94[EUR][1000 genomes]
rs60399672	0.94[EUR][1000 genomes]
rs61185650	0.94[EUR][1000 genomes]
rs61234123	0.94[EUR][1000 genomes]
rs61258861	0.94[EUR][1000 genomes]
rs61278540	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61329003	0.94[EUR][1000 genomes]
rs61501839	0.94[EUR][1000 genomes]
rs6493103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7162671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7162802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7163529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166278	0.87[ASW][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs7166945	1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes]
rs7167752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7169333	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7170248	0.94[EUR][1000 genomes]
rs7172106	1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs7175200	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7178318	1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs7179894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181772	0.87[ASW][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs7183109	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8023453	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs8024623	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8024805	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025876	0.94[EUR][1000 genomes]
rs8025955	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8026945	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs8027036	0.94[EUR][1000 genomes]
rs8028509	0.94[EUR][1000 genomes]
rs8028907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8032079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8037395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs883943	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs9672237	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[YRI][hapmap];0.94[EUR][1000 genomes]
rs9673085	1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[EUR][1000 genomes]
rs9806725	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1035386	chr15:44498905-44677174	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv904178	chr15:44609796-44724287	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44582800-44672200	Weak transcription	HSMM	muscle
2	chr15:44598600-44646800	Weak transcription	Right Ventricle	heart
3	chr15:44618000-44642600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:44618000-44642800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:44618000-44643200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:44624200-44642600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:44628000-44642400	Weak transcription	Stomach Mucosa	stomach
8	chr15:44628000-44646800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:44629000-44643800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:44629400-44641800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:44629400-44642600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:44633000-44642800	Weak transcription	NHDF-Ad	bronchial
13	chr15:44633200-44647000	Weak transcription	NHEK	skin
14	chr15:44633200-44647200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:44633200-44653200	Weak transcription	NH-A	brain
16	chr15:44634600-44648200	Weak transcription	Small Intestine	intestine
17	chr15:44636200-44642400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:44637200-44641400	Strong transcription	Fetal Intestine Small	intestine
19	chr15:44637600-44641200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:44637600-44642600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:44637600-44647200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:44638400-44641000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr15:44638400-44641600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr15:44638600-44641000	Strong transcription	Brain Cingulate Gyrus	brain
25	chr15:44638600-44641600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr15:44638800-44641000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:44638800-44642400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:44639000-44641000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:44639000-44641000	Strong transcription	Rectal Smooth Muscle	rectum
30	chr15:44639000-44641000	Strong transcription	Thymus	Thymus
31	chr15:44639000-44641200	Strong transcription	Fetal Muscle Leg	muscle
32	chr15:44639000-44641600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:44639000-44641800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:44639000-44642000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr15:44639000-44643000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:44639200-44641000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr15:44639200-44641000	Strong transcription	Brain Angular Gyrus	brain
38	chr15:44639200-44641000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr15:44639200-44641000	Strong transcription	K562	blood
40	chr15:44639200-44641200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:44639200-44641200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:44639200-44641200	Strong transcription	Primary T cells from cord blood	blood
43	chr15:44639200-44641200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:44639200-44641200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:44639200-44641200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr15:44639200-44641200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:44639200-44641400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:44639200-44641400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr15:44639200-44641600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:44639200-44641600	Strong transcription	Fetal Brain Female	brain

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