Variant report

Variant	rs1830271
Chromosome Location	chr6:144922088-144922089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1005974	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs10434891	0.80[JPT][hapmap]
rs11155357	0.90[ASN][1000 genomes]
rs11155361	0.92[CEU][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12204372	0.88[ASN][1000 genomes]
rs12214126	0.90[ASN][1000 genomes]
rs13191597	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13193448	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195928	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13198102	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13201946	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203229	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13203387	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13205040	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13207026	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13218121	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1534437	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1554814	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1590055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17793810	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1918744	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918745	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1918746	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918747	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918748	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2178128	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053805	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34095417	0.83[ASN][1000 genomes]
rs34504312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34571592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35161160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35524567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35904953	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3811099	0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3924656	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924657	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4052725	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4075776	0.82[ASN][1000 genomes]
rs4146297	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs4401687	0.81[CHB][hapmap]
rs4438980	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4582403	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56039703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56158631	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67767204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6908795	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6915390	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6918394	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6919793	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6920388	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6924812	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6938409	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6938455	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6938776	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001731	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73005504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73005509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7740593	0.86[ASN][1000 genomes]
rs7753246	0.80[JPT][hapmap]
rs9376829	0.84[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390177	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9390179	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390180	0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9403565	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9403566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9403569	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9403570	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9497023	1.00[CEU][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs952050	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs952051	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:144885800-144943400	Weak transcription	Ovary	ovary
3	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
4	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:144904600-144923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
8	chr6:144904800-144929000	Weak transcription	Left Ventricle	heart
9	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:144905400-144923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:144905400-144923400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:144905800-144922200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:144906400-144922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:144908600-144922400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:144908600-144922800	Weak transcription	Osteobl	bone
16	chr6:144908800-144947400	Weak transcription	HUVEC	blood vessel
17	chr6:144909400-144931000	Weak transcription	Aorta	Aorta
18	chr6:144910400-144924600	Weak transcription	Fetal Kidney	kidney
19	chr6:144912600-144923600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:144912800-144922600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:144914800-144922800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:144914800-144923200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:144914800-144929400	Weak transcription	Fetal Thymus	thymus
24	chr6:144914800-144937800	Weak transcription	HSMM	muscle
25	chr6:144914800-144960000	Weak transcription	Lung	lung
26	chr6:144915000-144934400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:144915200-144922800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:144916000-144922400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr6:144919600-144928000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:144920600-144923400	Strong transcription	Primary B cells from cord blood	blood
31	chr6:144920800-144923200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:144921000-144922800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr6:144921000-144923000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:144921000-144928800	Weak transcription	HepG2	liver
35	chr6:144921400-144922200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr6:144921400-144922200	ZNF genes & repeats	Liver	Liver
37	chr6:144921400-144922400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr6:144921400-144922400	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr6:144921400-144922600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:144921400-144922800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:144921400-144923000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:144921600-144922200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr6:144921600-144922200	ZNF genes & repeats	Fetal Heart	heart
44	chr6:144921600-144922600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:144921600-144922800	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr6:144921600-144923600	Weak transcription	Dnd41	blood
47	chr6:144921800-144922600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr6:144921800-144922600	ZNF genes & repeats	Fetal Lung	lung
49	chr6:144921800-144926200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:144922000-144928200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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