Variant report

Variant	rs2645134
Chromosome Location	chr6:38016889-38016890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10456097	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10947712	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10947713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190306	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190570	0.89[CHB][hapmap]
rs12194618	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12194823	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12200258	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12204352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12211248	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12211981	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs12212723	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12213151	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213835	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12214375	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs13210701	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs13214465	0.86[EUR][1000 genomes]
rs13220131	0.84[EUR][1000 genomes]
rs1569657	0.84[EUR][1000 genomes]
rs16890344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2055206	0.81[CEU][hapmap]
rs2132597	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2281266	0.83[EUR][1000 genomes]
rs259679	0.89[CHB][hapmap]
rs259684	0.81[EUR][1000 genomes]
rs259686	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs259689	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes]
rs259690	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs259691	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs259713	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs2645102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2645107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2645113	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2645117	0.89[CHB][hapmap]
rs2645120	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2645124	0.80[CEU][hapmap];0.86[CHB][hapmap]
rs2645127	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645128	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645137	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842500	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2842517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2842527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2842529	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34952988	0.83[EUR][1000 genomes]
rs35257826	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35823566	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56098839	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56140804	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7747130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs941850	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs966705	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers 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
2	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:37995800-38020600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:37998600-38029200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:37999800-38017600	Weak transcription	Right Atrium	heart
5	chr6:37999800-38018600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:38001000-38028600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:38002400-38029400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:38002800-38017800	Weak transcription	HSMM	muscle
9	chr6:38002800-38024400	Weak transcription	Fetal Stomach	stomach
10	chr6:38003000-38024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:38003000-38025000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:38003200-38024400	Weak transcription	Primary T cells from cord blood	blood
13	chr6:38003600-38025400	Weak transcription	NHDF-Ad	bronchial
14	chr6:38003800-38017800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:38004000-38018000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:38004000-38018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:38004200-38024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:38004200-38029200	Weak transcription	Primary B cells from cord blood	blood
19	chr6:38006800-38024200	Weak transcription	Thymus	Thymus
20	chr6:38007400-38025400	Weak transcription	NH-A	brain
21	chr6:38007600-38018000	Weak transcription	Osteobl	bone
22	chr6:38008400-38028400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:38009000-38019400	Weak transcription	A549	lung
24	chr6:38009200-38018800	Weak transcription	Right Ventricle	heart
25	chr6:38010600-38029000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:38011600-38024200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:38011800-38024200	Weak transcription	Psoas Muscle	Psoas
28	chr6:38011800-38029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:38012000-38022400	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:38012400-38029400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:38014000-38018000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:38015400-38029600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:38015600-38021000	Weak transcription	HepG2	liver
34	chr6:38015600-38029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:38016200-38029400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr6:38016800-38017000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr6:38016800-38020400	Weak transcription	Spleen	Spleen

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