Variant report

Variant	rs62397020
Chromosome Location	chr6:38237348-38237349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38230666..38232627-chr6:38236052..38240073,5	MCF-7	breast:
2	chr6:38231064..38233910-chr6:38235899..38238476,2	K562	blood:
3	chr6:38236548..38239476-chr6:38249471..38251086,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11758664	1.00[ASN][1000 genomes]
rs12660215	1.00[ASN][1000 genomes]
rs12661843	1.00[ASN][1000 genomes]
rs12662422	1.00[ASN][1000 genomes]
rs12664020	1.00[ASN][1000 genomes]
rs13193103	1.00[ASN][1000 genomes]
rs13197522	1.00[ASN][1000 genomes]
rs13198868	1.00[ASN][1000 genomes]
rs13206261	1.00[ASN][1000 genomes]
rs13209118	1.00[ASN][1000 genomes]
rs16890541	1.00[ASN][1000 genomes]
rs28360643	1.00[ASN][1000 genomes]
rs36094313	1.00[ASN][1000 genomes]
rs60814959	1.00[ASN][1000 genomes]
rs6907434	1.00[ASN][1000 genomes]
rs71571312	1.00[ASN][1000 genomes]
rs7762070	1.00[ASN][1000 genomes]
rs7768902	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38208200-38255000	Weak transcription	Ovary	ovary
2	chr6:38216000-38238000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:38220000-38238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:38220600-38241600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:38223600-38256000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:38224400-38239000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:38224400-38267600	Weak transcription	Primary T cells from cord blood	blood
8	chr6:38224600-38255200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:38224800-38256400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:38225000-38255800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:38225200-38238600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:38225800-38238400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:38225800-38239200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:38226400-38258000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:38226600-38256600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:38226600-38257000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:38230200-38237400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:38230200-38253400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:38230400-38237400	Weak transcription	Aorta	Aorta
20	chr6:38230800-38237400	Weak transcription	Fetal Brain Female	brain
21	chr6:38230800-38238000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:38230800-38241200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:38230800-38256000	Weak transcription	Right Atrium	heart
24	chr6:38230800-38257800	Weak transcription	Pancreas	Pancrea
25	chr6:38231000-38250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:38232200-38237400	Weak transcription	NHLF	lung
27	chr6:38232600-38237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:38232800-38238000	Weak transcription	Right Ventricle	heart
29	chr6:38232800-38241200	Weak transcription	Small Intestine	intestine
30	chr6:38233800-38241800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:38234400-38241600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:38234600-38238200	Enhancers	Brain Angular Gyrus	brain
33	chr6:38234600-38238400	Enhancers	Brain Germinal Matrix	brain
34	chr6:38234600-38238600	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:38234600-38238600	Enhancers	Brain Hippocampus Middle	brain
36	chr6:38234600-38238600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:38234800-38237400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:38234800-38238800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:38235000-38237400	Weak transcription	HSMM	muscle
40	chr6:38235400-38238000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:38235400-38238000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:38235800-38238400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:38235800-38240000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:38235800-38241800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:38236000-38237400	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:38236000-38237600	Enhancers	Fetal Intestine Large	intestine
47	chr6:38236000-38238200	Enhancers	Fetal Intestine Small	intestine
48	chr6:38236000-38238400	Enhancers	Psoas Muscle	Psoas
49	chr6:38236000-38239600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:38236000-38239800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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