Variant report

Variant	rs12660330
Chromosome Location	chr6:76533091-76533092
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	chr6:76530548..76533502-chr6:76541265..76544166,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11963710	0.90[ASN][1000 genomes]
rs11964201	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967411	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968226	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11969264	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660075	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs12660493	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661973	0.86[ASN][1000 genomes]
rs12662248	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12662475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662565	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662718	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12662824	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12662879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12663203	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663535	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12664049	0.86[JPT][hapmap]
rs12664146	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12664721	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12664742	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12665404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13205059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879451	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778009	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3798425	0.86[JPT][hapmap]
rs3798433	0.86[JPT][hapmap]
rs3798436	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3798445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3798450	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798452	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3798453	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3798456	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3798457	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs56251027	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59710688	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60360183	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61620194	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67182025	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654751	0.86[ASN][1000 genomes]
rs72654752	0.89[ASN][1000 genomes]
rs72654753	0.91[ASN][1000 genomes]
rs72654754	0.91[ASN][1000 genomes]
rs72654755	0.90[ASN][1000 genomes]
rs72654756	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72654757	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72654758	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72654759	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72654760	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72654761	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72654762	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72654763	0.95[ASN][1000 genomes]
rs72654764	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654765	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654766	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654767	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654769	1.00[ASN][1000 genomes]
rs72654770	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654773	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654776	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72654783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72654784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72654785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72654786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72654787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72654788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72654789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674545	0.82[EUR][1000 genomes]
rs72674546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751021	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73751022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761217	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9443187	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9443191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447543	1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9447544	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9447545	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9447546	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9447549	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9447552	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9447555	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.95[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	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
3	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv1032961	chr6:76343575-76788852	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1028340	chr6:76410921-76960225	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv538319	chr6:76410921-76960225	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76501800-76540800	Weak transcription	Left Ventricle	heart
2	chr6:76519400-76542600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:76520200-76576400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:76520600-76540600	Weak transcription	Aorta	Aorta
5	chr6:76521200-76542600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:76521200-76542800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:76521400-76546200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:76521400-76547600	Weak transcription	Colonic Mucosa	Colon
9	chr6:76521800-76571000	Weak transcription	Gastric	stomach
10	chr6:76522000-76558800	Weak transcription	Ovary	ovary
11	chr6:76522200-76542600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:76522200-76554200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:76522600-76559000	Weak transcription	Fetal Kidney	kidney
14	chr6:76523400-76540200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:76523800-76539600	Weak transcription	NHEK	skin
16	chr6:76523800-76541200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:76523800-76542600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:76523800-76542800	Weak transcription	Lung	lung
19	chr6:76523800-76569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:76524000-76540400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:76524000-76540600	Weak transcription	HMEC	breast
22	chr6:76524000-76541000	Weak transcription	Fetal Stomach	stomach
23	chr6:76524000-76542600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:76524000-76542800	Weak transcription	Esophagus	oesophagus
25	chr6:76524000-76543000	Weak transcription	Brain Substantia Nigra	brain
26	chr6:76524000-76544000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:76524200-76534000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:76524200-76542600	Weak transcription	Brain Angular Gyrus	brain
29	chr6:76524400-76534400	Weak transcription	Fetal Intestine Small	intestine
30	chr6:76524400-76540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:76524400-76542800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:76525600-76550200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:76527200-76558800	Weak transcription	Small Intestine	intestine
34	chr6:76528000-76539600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:76528200-76539600	Weak transcription	HSMM	muscle
36	chr6:76528200-76542600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:76528400-76550400	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:76528600-76534000	Weak transcription	Adipose Nuclei	Adipose
39	chr6:76528600-76539400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:76528600-76540400	Weak transcription	NH-A	brain
41	chr6:76528600-76540600	Weak transcription	NHDF-Ad	bronchial
42	chr6:76528600-76540800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:76528600-76542600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:76528600-76542600	Weak transcription	HUVEC	blood vessel
45	chr6:76528600-76548400	Weak transcription	NHLF	lung
46	chr6:76528800-76540200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:76528800-76540200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:76528800-76540400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:76529200-76539600	Weak transcription	Fetal Brain Female	brain
50	chr6:76529400-76540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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