Variant report

Variant	rs12530290
Chromosome Location	chr6:80915734-80915735
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1040593	0.83[ASN][1000 genomes]
rs1179571	1.00[ASN][1000 genomes]
rs12524041	1.00[JPT][hapmap]
rs12525046	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526876	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527244	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527712	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527889	1.00[JPT][hapmap]
rs12528770	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12529133	1.00[JPT][hapmap]
rs12529191	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12529575	1.00[JPT][hapmap]
rs16891532	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891545	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176133	1.00[JPT][hapmap]
rs17254634	1.00[JPT][hapmap]
rs3823176	1.00[JPT][hapmap]
rs4706829	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4706830	1.00[ASN][1000 genomes]
rs55755254	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57913486	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57985210	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584372	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs585506	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs587999	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs588009	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs590686	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs595494	0.84[CEU][hapmap]
rs59552964	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598234	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs59973779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604732	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs610946	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs612208	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs613577	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs623085	1.00[ASN][1000 genomes]
rs627968	1.00[JPT][hapmap]
rs631367	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs634499	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs636499	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs638921	1.00[ASN][1000 genomes]
rs640568	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs641229	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs642943	1.00[ASN][1000 genomes]
rs644666	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6454149	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs646369	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs649148	1.00[ASN][1000 genomes]
rs651065	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs652576	0.84[CEU][hapmap]
rs66518170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66560352	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66606872	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs669420	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs670119	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs670390	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs671614	1.00[JPT][hapmap]
rs67379633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67456645	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67597629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67632695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677134	1.00[ASN][1000 genomes]
rs67851250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67988458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685902	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs687702	0.84[CEU][hapmap]
rs688442	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6906403	1.00[ASN][1000 genomes]
rs6908084	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6920239	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6920430	0.83[ASN][1000 genomes]
rs6924011	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723308	1.00[ASN][1000 genomes]
rs72892417	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892426	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906886	0.82[EUR][1000 genomes]
rs72906894	0.82[EUR][1000 genomes]
rs72908809	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908830	0.81[EUR][1000 genomes]
rs72908854	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764442	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755034	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7757610	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765797	1.00[JPT][hapmap]
rs7771047	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7771726	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772483	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806781	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs806839	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs806841	1.00[JPT][hapmap]
rs806844	0.83[ASN][1000 genomes]
rs806846	0.83[ASN][1000 genomes]
rs806850	0.83[ASN][1000 genomes]
rs811567	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs932463	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9443739	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9688524	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688535	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830708	chr6:80844283-80996876	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv886309	chr6:80880138-80959885	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886310	chr6:80880138-81025879	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1033452	chr6:80888667-81000213	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80878000-80921000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:80878600-80916000	Weak transcription	Adipose Nuclei	Adipose
3	chr6:80882400-80935400	Weak transcription	Dnd41	blood
4	chr6:80885800-80919000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:80891600-80931200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:80896200-80921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:80896400-80927400	Weak transcription	Aorta	Aorta
8	chr6:80896400-80943800	Weak transcription	Right Ventricle	heart
9	chr6:80897800-80918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:80904200-80921800	Weak transcription	Fetal Thymus	thymus
11	chr6:80904400-80916200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:80905000-80919000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:80905600-80923800	Weak transcription	Small Intestine	intestine
14	chr6:80907400-80919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:80907400-80920400	Weak transcription	Gastric	stomach
16	chr6:80907600-80916800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:80907600-80917000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:80907600-80920400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:80907600-80920400	Weak transcription	NHDF-Ad	bronchial
20	chr6:80907800-80915800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:80907800-80919800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:80907800-80920400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:80907800-80920600	Weak transcription	HSMM	muscle
24	chr6:80907800-80920800	Weak transcription	Pancreas	Pancrea
25	chr6:80907800-80921000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:80908000-80920400	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:80908000-80920400	Weak transcription	HSMMtube	muscle
28	chr6:80908000-80936200	Weak transcription	Fetal Lung	lung
29	chr6:80909000-80920400	Weak transcription	Left Ventricle	heart
30	chr6:80909000-80920400	Weak transcription	Psoas Muscle	Psoas
31	chr6:80909000-80940200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:80910000-80933400	Weak transcription	Esophagus	oesophagus
33	chr6:80911200-80924200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:80911400-80919400	Weak transcription	GM12878-XiMat	blood
35	chr6:80911400-80920000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:80911800-80935200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:80912000-80921000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:80912800-80915800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:80913400-80919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:80913400-80923200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:80913600-80919800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:80913800-80920600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:80914000-80920000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:80914000-80920400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:80914200-80916400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:80914600-80980400	Weak transcription	Ovary	ovary
47	chr6:80914800-80917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:80914800-80921000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:80914800-80929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:80914800-80934400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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