Variant report

Variant	rs62430713
Chromosome Location	chr6:143180726-143180727
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	chr6:143175982..143177765-chr6:143180458..143183206,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11155265	0.93[EUR][1000 genomes]
rs11969311	0.88[EUR][1000 genomes]
rs12190804	0.95[EUR][1000 genomes]
rs12192692	0.95[EUR][1000 genomes]
rs12194338	0.88[EUR][1000 genomes]
rs12194808	0.95[EUR][1000 genomes]
rs12196693	0.95[EUR][1000 genomes]
rs12199711	0.95[EUR][1000 genomes]
rs12201734	0.95[EUR][1000 genomes]
rs12201987	0.95[EUR][1000 genomes]
rs12203708	0.95[EUR][1000 genomes]
rs12205948	0.95[EUR][1000 genomes]
rs12206012	0.95[EUR][1000 genomes]
rs12208876	0.88[EUR][1000 genomes]
rs12210048	0.91[EUR][1000 genomes]
rs12210301	0.88[EUR][1000 genomes]
rs12214573	0.90[EUR][1000 genomes]
rs12333188	1.00[ASN][1000 genomes]
rs17071986	1.00[ASN][1000 genomes]
rs17444447	0.95[EUR][1000 genomes]
rs198661	0.81[EUR][1000 genomes]
rs2142938	0.95[EUR][1000 genomes]
rs2184364	0.83[EUR][1000 genomes]
rs2328374	1.00[ASN][1000 genomes]
rs2876528	0.95[EUR][1000 genomes]
rs4349826	0.89[EUR][1000 genomes]
rs4492208	0.94[EUR][1000 genomes]
rs495763	1.00[ASN][1000 genomes]
rs62430707	0.87[EUR][1000 genomes]
rs62430709	0.95[EUR][1000 genomes]
rs62430712	0.95[EUR][1000 genomes]
rs62432360	0.88[EUR][1000 genomes]
rs62432362	0.88[EUR][1000 genomes]
rs6905453	0.87[EUR][1000 genomes]
rs6910072	0.88[EUR][1000 genomes]
rs6925118	0.87[EUR][1000 genomes]
rs6927858	0.88[EUR][1000 genomes]
rs728589	0.95[EUR][1000 genomes]
rs72990282	0.88[EUR][1000 genomes]
rs72995085	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs972119	0.95[EUR][1000 genomes]
rs998313	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
2	chr6:143173200-143182400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:143173200-143188600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:143173600-143188200	Weak transcription	NHLF	lung
5	chr6:143175400-143181800	Weak transcription	Spleen	Spleen
6	chr6:143175400-143182800	Weak transcription	Right Ventricle	heart
7	chr6:143175400-143185200	Weak transcription	Right Atrium	heart
8	chr6:143175600-143181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:143175600-143181800	Weak transcription	HMEC	breast
10	chr6:143175600-143192000	Weak transcription	NHEK	skin
11	chr6:143175600-143192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:143175600-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:143176200-143182800	Weak transcription	Small Intestine	intestine
14	chr6:143176200-143185000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:143176600-143185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:143176600-143186800	Weak transcription	Esophagus	oesophagus
17	chr6:143176600-143188200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:143176600-143192400	Weak transcription	NHDF-Ad	bronchial
19	chr6:143177000-143192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:143177800-143182400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:143177800-143185000	Weak transcription	Fetal Kidney	kidney
22	chr6:143178000-143184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:143178200-143192800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:143178800-143184800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:143179000-143184800	Weak transcription	Brain Substantia Nigra	brain
26	chr6:143179200-143181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:143179200-143182800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:143179200-143183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:143179400-143181000	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:143179400-143183000	Weak transcription	Brain Angular Gyrus	brain
31	chr6:143179400-143184800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:143179400-143184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:143179400-143184800	Weak transcription	Psoas Muscle	Psoas
34	chr6:143179400-143186000	Weak transcription	Brain Germinal Matrix	brain
35	chr6:143179400-143188400	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:143179600-143180800	Enhancers	Primary B cells from cord blood	blood
37	chr6:143179600-143180800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:143179600-143180800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:143179600-143181000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:143179600-143181000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:143179600-143181800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:143179600-143181800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:143179600-143182000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr6:143179600-143182400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:143179600-143182800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:143179600-143183000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:143179600-143183000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:143179600-143183400	Enhancers	Primary T cells from cord blood	blood
49	chr6:143179600-143183400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:143179600-143183400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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