Variant report

Variant	rs9369029
Chromosome Location	chr6:37985025-37985026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37983748..37986719-chr6:38000048..38002009,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1212636	0.85[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.94[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs13198420	0.85[CHB][hapmap]
rs174105	0.86[ASN][1000 genomes]
rs187741	0.81[ASN][1000 genomes]
rs1885325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1923279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1979759	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2055205	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2180514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2201646	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs259672	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs259674	0.86[ASN][1000 genomes]
rs259675	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs259676	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs259677	0.86[ASN][1000 genomes]
rs259678	0.92[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs259682	0.86[ASN][1000 genomes]
rs259683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs259685	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs259687	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs259688	0.81[ASN][1000 genomes]
rs259693	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs259694	0.88[ASN][1000 genomes]
rs259717	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs259721	0.85[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.94[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs259722	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs259723	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4711522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711524	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4714118	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714123	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs6458036	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6458040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs67479083	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6915506	0.92[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs6917668	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6920185	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6924634	0.81[EUR][1000 genomes]
rs6929371	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs6930859	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs6934617	1.00[CEU][hapmap]
rs6936504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6938580	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7765798	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs881681	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9349053	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs9369033	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs9394469	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9394471	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9462374	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9462380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9470714	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs9470723	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs9470724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs9470762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs9470800	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9647620	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv34450	chr6:37963308-38007241	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2763549	chr6:37985025-38014006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37969200-37987800	Weak transcription	Fetal Kidney	kidney
3	chr6:37976600-37988400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:37976800-37987800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:37978200-37987600	Weak transcription	Pancreas	Pancrea
6	chr6:37979400-37989000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:37980000-37986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:37980600-37987800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:37981400-37989000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:37981400-37989000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:37981400-37990400	Weak transcription	Fetal Brain Female	brain
12	chr6:37982600-37985400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr6:37982600-37989400	Weak transcription	Psoas Muscle	Psoas
14	chr6:37983000-37985200	Enhancers	Brain Anterior Caudate	brain
15	chr6:37983000-37985400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:37983000-37994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:37983400-37988400	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:37983400-37994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:37983600-37987600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:37983600-37988200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:37983800-37988400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:37984200-37985200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:37984200-37985400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:37984200-37988400	Weak transcription	Brain Substantia Nigra	brain
25	chr6:37984200-37989400	Enhancers	Liver	Liver
26	chr6:37984600-37985200	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:37984600-37985200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:37984600-37985200	Enhancers	Brain Cingulate Gyrus	brain
29	chr6:37984600-37985200	Enhancers	GM12878-XiMat	blood
30	chr6:37984800-37985200	Enhancers	Gastric	stomach
31	chr6:37984800-37985200	Enhancers	Left Ventricle	heart
32	chr6:37984800-37985200	Enhancers	Ovary	ovary
33	chr6:37984800-37985200	Enhancers	Right Atrium	heart
34	chr6:37984800-37985200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:37984800-37985200	Enhancers	Stomach Smooth Muscle	stomach
36	chr6:37984800-37985800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:37984800-37987000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:37985000-37985200	Enhancers	Brain Angular Gyrus	brain
39	chr6:37985000-37985200	Enhancers	Colon Smooth Muscle	Colon
40	chr6:37985000-37985200	Enhancers	Lung	lung
41	chr6:37985000-37985200	Enhancers	Small Intestine	intestine
42	chr6:37985000-37985200	Enhancers	A549	lung
43	chr6:37985000-37985400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:37985000-37985600	Enhancers	K562	blood
45	chr6:37985000-37989000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:37985000-37995600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:37985000-38002400	Weak transcription	Primary B cells from cord blood	blood
48	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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