Variant report

Variant	rs6572976
Chromosome Location	chr14:55262653-55262654
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	chr14:55193824..55195422-chr14:55261940..55264459,2	MCF-7	breast:
2	chr14:55258433..55260433-chr14:55261576..55263537,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10136563	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138916	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1040877	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158024	0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs11431	0.96[CEU][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12586289	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12886835	0.84[EUR][1000 genomes]
rs12886870	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12887011	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2181049	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281650	0.82[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281652	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2281653	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2295824	0.91[JPT][hapmap]
rs3813402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4402472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4409990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4506812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4508355	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4511452	0.87[EUR][1000 genomes]
rs4516125	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4898855	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4901541	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs4901542	0.82[JPT][hapmap]
rs4901547	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4901548	0.86[CEU][hapmap]
rs6572975	1.00[CEU][hapmap];0.94[CHB][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6572977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6572978	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6572980	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709939	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7143189	0.82[JPT][hapmap]
rs7148657	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7150498	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7150628	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7151853	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153975	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155922	0.83[JPT][hapmap]
rs7158665	0.82[JPT][hapmap]
rs8006657	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8011598	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8011837	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011848	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013211	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8021325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8021957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8022503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911614	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs911615	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs927379	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927380	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927381	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs927383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:55241200-55272200	Weak transcription	A549	lung
3	chr14:55257200-55272400	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:55257400-55263800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:55257800-55263200	Weak transcription	HSMMtube	muscle
6	chr14:55257800-55272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:55258000-55262800	Weak transcription	HMEC	breast
8	chr14:55258000-55262800	Weak transcription	HUVEC	blood vessel
9	chr14:55258000-55263200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:55258000-55265000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:55258000-55268000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:55258000-55272200	Weak transcription	Right Ventricle	heart
13	chr14:55258200-55263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:55259400-55263200	Weak transcription	NHDF-Ad	bronchial
15	chr14:55260800-55263400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:55261800-55263200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:55261800-55264600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:55262000-55263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:55262000-55272400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:55262000-55274800	Weak transcription	Spleen	Spleen
21	chr14:55262200-55262800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:55262200-55263200	Weak transcription	NHLF	lung
23	chr14:55262200-55263400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:55262200-55264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:55262200-55267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:55262200-55272400	Weak transcription	Aorta	Aorta
27	chr14:55262400-55263000	Weak transcription	HSMM	muscle
28	chr14:55262400-55263200	Enhancers	HepG2	liver
29	chr14:55262400-55264200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:55262400-55264200	Enhancers	Osteobl	bone
31	chr14:55262600-55263200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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