Variant report

Variant	rs10498740
Chromosome Location	chr6:37911030-37911031
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	chr6:37904858..37907835-chr6:37909386..37911345,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10485030	0.85[CHB][hapmap]
rs10498739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10947702	0.86[CHB][hapmap]
rs10947704	0.85[CHB][hapmap]
rs10947710	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11750950	0.95[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs11751781	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs11751927	0.82[ASN][1000 genomes]
rs11752521	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs11752863	0.99[ASN][1000 genomes]
rs11753054	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11755629	0.86[CHB][hapmap]
rs11756713	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs11757072	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11757323	0.89[ASN][1000 genomes]
rs11758095	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11759483	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11759725	0.88[ASN][1000 genomes]
rs11759826	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs11969988	0.81[ASN][1000 genomes]
rs12660221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12660498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12660732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12660773	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12660919	0.82[ASN][1000 genomes]
rs12660922	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12661073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12661109	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12661129	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12661378	0.85[CHB][hapmap]
rs12661480	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12662305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12662426	0.85[CHB][hapmap]
rs12662823	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12663086	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12663207	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12663427	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12663957	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12664091	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs12664768	0.86[CHB][hapmap]
rs12664900	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13206035	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs16890168	0.87[JPT][hapmap]
rs16890175	0.90[CHB][hapmap]
rs16890177	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16890181	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16890215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16890247	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16890267	0.82[ASN][1000 genomes]
rs16890298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16890299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16890301	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs16890305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16890307	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16890309	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16890341	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs16890362	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16890370	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1885324	0.90[CHB][hapmap]
rs2055207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2055208	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2064795	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2145887	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2273441	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2274090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2274091	0.85[CHB][hapmap]
rs2395689	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs2645130	0.83[ASN][1000 genomes]
rs2842510	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs2842511	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs2842512	0.84[ASN][1000 genomes]
rs2842521	0.85[CHB][hapmap]
rs28740822	0.89[ASN][1000 genomes]
rs34254045	0.82[ASN][1000 genomes]
rs34370874	0.89[ASN][1000 genomes]
rs34450348	0.84[ASN][1000 genomes]
rs35051126	0.85[ASN][1000 genomes]
rs35772972	0.84[ASN][1000 genomes]
rs3844314	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs3852216	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4524602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs55786703	0.93[ASN][1000 genomes]
rs56023538	0.84[ASN][1000 genomes]
rs56348433	0.89[ASN][1000 genomes]
rs56390138	0.89[ASN][1000 genomes]
rs57160603	0.89[ASN][1000 genomes]
rs57198506	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57276677	0.97[ASN][1000 genomes]
rs57458792	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57591988	0.94[ASN][1000 genomes]
rs57911756	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57995712	0.89[ASN][1000 genomes]
rs58084785	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58320470	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58473303	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58692659	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59036086	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59103990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59649654	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59769374	0.89[ASN][1000 genomes]
rs59859268	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59996041	0.94[ASN][1000 genomes]
rs60141491	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs60284537	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60404082	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60508820	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60637081	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60883115	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61090283	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61108907	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61277916	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61332486	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61466900	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6458032	0.86[CHB][hapmap]
rs6906289	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs6911716	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs73421436	0.99[ASN][1000 genomes]
rs73421439	0.99[ASN][1000 genomes]
rs752110	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7739801	0.94[CHB][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs7742226	0.85[CHB][hapmap]
rs7746266	0.85[CHB][hapmap]
rs7747996	0.81[ASN][1000 genomes]
rs7748312	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs7756261	0.86[CHB][hapmap]
rs7759792	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs7761561	0.81[CHB][hapmap]
rs7764130	0.86[CHB][hapmap]
rs7773419	0.85[CHB][hapmap]
rs7775794	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs874095	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9470772	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9470777	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9470784	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9470794	0.95[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
3	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
5	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:37896800-37929000	Weak transcription	Esophagus	oesophagus
7	chr6:37898200-37913800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:37901000-37915400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:37902200-37913600	Weak transcription	HepG2	liver
10	chr6:37903400-37911400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:37904800-37920400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:37904800-37920400	Weak transcription	Small Intestine	intestine
13	chr6:37904800-37933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:37905000-37919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:37905800-37911400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:37905800-37916200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:37905800-37916600	Weak transcription	Dnd41	blood
18	chr6:37905800-37924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:37907000-37921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:37907000-37926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:37907200-37911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:37908000-37912400	Weak transcription	Left Ventricle	heart
23	chr6:37908200-37913600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:37908400-37911400	Enhancers	Adipose Nuclei	Adipose
25	chr6:37908600-37920400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:37909000-37911200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:37909000-37911600	Enhancers	Brain Angular Gyrus	brain
28	chr6:37909400-37912400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:37909400-37912800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:37909600-37911400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:37909600-37912800	Weak transcription	Fetal Heart	heart
32	chr6:37909600-37914400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:37909800-37911200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:37909800-37911400	Weak transcription	Primary T cells from cord blood	blood
35	chr6:37909800-37917400	Weak transcription	Ovary	ovary
36	chr6:37910000-37912600	Weak transcription	Psoas Muscle	Psoas
37	chr6:37910000-37913200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:37910000-37913800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:37910000-37913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:37910000-37913800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:37910000-37922600	Weak transcription	Right Ventricle	heart
42	chr6:37910200-37911800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:37910200-37911800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr6:37910200-37911800	Enhancers	Colon Smooth Muscle	Colon
45	chr6:37910400-37911200	Enhancers	Brain Anterior Caudate	brain
46	chr6:37910400-37911400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:37910400-37911400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:37910400-37911600	Enhancers	Primary hematopoietic stem cells	blood
49	chr6:37910400-37911800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:37910400-37911800	Enhancers	Duodenum Smooth Muscle	Duodenum

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