Variant report

Variant	rs2023957
Chromosome Location	chr14:72985816-72985817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72985021..72986581-chr14:72988100..72990436,2	K562	blood:
2	chr14:72985322..72986876-chr14:72989675..72992463,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10131083	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10138138	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10147108	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1017082	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1017083	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11158960	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620663	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11621407	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11621791	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11622246	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11622509	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11623039	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11623448	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11623449	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11626185	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11628539	1.00[CEU][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11628659	1.00[JPT][hapmap]
rs11629448	0.81[CHD][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11844952	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17117164	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17180712	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17180754	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1859475	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2189810	0.84[CHB][hapmap];0.87[CHD][hapmap]
rs2238171	1.00[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2238174	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2238175	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2238176	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2286072	1.00[CEU][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28499014	0.93[EUR][1000 genomes]
rs28698186	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28788858	0.85[EUR][1000 genomes]
rs3784043	1.00[CEU][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3784044	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4346151	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4419001	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4617784	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4617785	0.87[EUR][1000 genomes]
rs5008274	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56989014	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57126808	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58049100	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59911600	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144114	1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7144560	1.00[CEU][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7161138	1.00[CEU][hapmap];0.80[CHD][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7161176	0.81[CHD][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7161290	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7161351	1.00[CEU][hapmap];0.81[CHD][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73300706	0.92[EUR][1000 genomes]
rs7493857	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs757654	0.91[EUR][1000 genomes]
rs8008812	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8009340	1.00[CEU][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs8009343	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs8010440	1.00[CEU][hapmap];0.90[EUR][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72979400-72995400	Weak transcription	Left Ventricle	heart
2	chr14:72981200-72986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:72982800-72987000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:72983200-72986600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr14:72983200-72986800	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:72983400-72986600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr14:72983400-72986800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:72983400-72986800	Enhancers	Dnd41	blood
9	chr14:72983400-72987200	Enhancers	Fetal Thymus	thymus
10	chr14:72983600-72987200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:72983600-72995000	Weak transcription	Colonic Mucosa	Colon
12	chr14:72983800-72986600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:72983800-72987000	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:72984000-72986400	Enhancers	Thymus	Thymus
15	chr14:72984000-72994800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:72984200-72986600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr14:72984200-72990400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:72984200-72994400	Weak transcription	Fetal Stomach	stomach
19	chr14:72984400-72986200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:72984600-72988800	Weak transcription	Fetal Lung	lung
22	chr14:72984800-72987000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:72984800-72989400	Weak transcription	Liver	Liver
24	chr14:72984800-72989600	Weak transcription	Ovary	ovary
25	chr14:72984800-72995400	Weak transcription	Osteobl	bone
26	chr14:72985000-72986000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr14:72985000-72986000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:72985000-72986600	Flanking Active TSS	GM12878-XiMat	blood
29	chr14:72985000-72988800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:72985200-72986000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr14:72985200-72986200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:72985400-72986000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr14:72985400-72986200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr14:72985400-72986200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:72985600-72986200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:72985600-72986200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr14:72985600-72986400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr14:72985600-72986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:72985600-72987000	Weak transcription	HSMM	muscle
40	chr14:72985600-72990000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:72985800-72986000	Enhancers	NH-A	brain
42	chr14:72985800-72986200	Enhancers	Fetal Heart	heart
43	chr14:72985800-72986600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:72985800-72986600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:72985800-72987000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:72985800-72989800	Weak transcription	Adipose Nuclei	Adipose
47	chr14:72985800-72990000	Weak transcription	Spleen	Spleen

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