Variant report

Variant	rs2717509
Chromosome Location	chr2:37079198-37079199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1008838	0.86[CHB][hapmap]
rs1015600	0.92[ASN][1000 genomes]
rs10182741	1.00[CHB][hapmap]
rs10189328	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10201963	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1043290	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10490659	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10495868	1.00[CHB][hapmap]
rs10865120	0.86[CHB][hapmap]
rs11124549	0.92[ASN][1000 genomes]
rs11124552	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11674211	1.00[CHB][hapmap]
rs11675109	1.00[CHB][hapmap]
rs11676225	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11678303	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11682966	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11904023	1.00[CHB][hapmap]
rs12328274	0.81[ASN][1000 genomes]
rs12479195	1.00[CHB][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12624290	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs13020894	0.80[ASN][1000 genomes]
rs13388406	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13401327	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13408941	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13413438	1.00[CHB][hapmap]
rs17020005	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs17020024	0.87[ASN][1000 genomes]
rs17020069	1.00[CHB][hapmap]
rs17020072	1.00[CHB][hapmap]
rs17020074	1.00[CHB][hapmap]
rs17020084	1.00[CHB][hapmap]
rs17442690	0.98[ASN][1000 genomes]
rs17442739	0.98[ASN][1000 genomes]
rs1861433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1861434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861436	1.00[CHB][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2160379	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2216106	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2255330	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287087	0.98[ASN][1000 genomes]
rs2302658	0.83[ASN][1000 genomes]
rs2372812	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2540918	0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2540919	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2540920	0.89[ASN][1000 genomes]
rs2540925	0.89[ASN][1000 genomes]
rs2540931	0.89[ASN][1000 genomes]
rs2540936	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2540939	0.92[ASN][1000 genomes]
rs2540940	0.91[ASN][1000 genomes]
rs2540941	0.92[ASN][1000 genomes]
rs2541000	0.86[CHB][hapmap]
rs2691104	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691109	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691110	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691114	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2691115	1.00[CHB][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691116	1.00[CHB][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691118	1.00[CHB][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2691122	0.84[ASN][1000 genomes]
rs2717492	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2717494	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2717495	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2717496	0.87[ASN][1000 genomes]
rs2717500	0.81[ASN][1000 genomes]
rs2717501	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2717505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2717507	0.81[AFR][1000 genomes]
rs2717508	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717510	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2717511	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs2717512	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2717516	0.84[ASN][1000 genomes]
rs2717518	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2717519	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2717520	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2717522	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28718824	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28754306	0.85[ASN][1000 genomes]
rs2888418	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3770775	1.00[CHB][hapmap]
rs3845779	1.00[CHB][hapmap]
rs41486347	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4635515	1.00[CHB][hapmap]
rs55993128	0.83[ASN][1000 genomes]
rs56186144	0.83[ASN][1000 genomes]
rs57671539	0.83[ASN][1000 genomes]
rs57884362	0.85[ASN][1000 genomes]
rs58970461	0.83[ASN][1000 genomes]
rs6715033	0.89[ASN][1000 genomes]
rs6739553	0.87[ASN][1000 genomes]
rs6756876	0.89[ASN][1000 genomes]
rs723673	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73924932	0.81[ASN][1000 genomes]
rs7562109	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs7581702	1.00[CHB][hapmap]
rs9789527	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9789649	0.92[ASN][1000 genomes]
rs998321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
4	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:37067400-37083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:37067600-37083800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
9	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
10	chr2:37068400-37095600	Weak transcription	Fetal Kidney	kidney
11	chr2:37068600-37083800	Weak transcription	HSMMtube	muscle
12	chr2:37068600-37085600	Weak transcription	A549	lung
13	chr2:37068800-37082400	Weak transcription	Fetal Brain Female	brain
14	chr2:37069800-37082400	Weak transcription	HepG2	liver
15	chr2:37071600-37087200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:37071800-37087200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:37072000-37083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:37072400-37083200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:37073800-37079200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:37073800-37079400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:37073800-37088200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:37073800-37098400	Weak transcription	Colonic Mucosa	Colon
23	chr2:37074000-37079200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:37074000-37079200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:37074000-37079400	Strong transcription	Dnd41	blood
26	chr2:37074000-37080200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:37074000-37081200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:37074000-37087200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:37074000-37088600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:37074000-37089000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:37074200-37079200	Strong transcription	Primary T cells from cord blood	blood
32	chr2:37074200-37079400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:37074200-37079400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:37074200-37085600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:37075000-37083800	Weak transcription	Fetal Intestine Small	intestine
36	chr2:37075000-37086600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:37075200-37079400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:37075200-37081400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:37075400-37079800	Strong transcription	HUVEC	blood vessel
40	chr2:37075400-37088200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:37075600-37091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:37075600-37101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:37076000-37079600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:37076200-37079200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:37076600-37084000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:37076800-37083800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
50	chr2:37077000-37083200	Weak transcription	Brain Anterior Caudate	brain

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