Variant report

Variant	rs57126147
Chromosome Location	chr6:144735496-144735497
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	chr6:144735323..144737849-chr6:144741560..144744024,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs36000065	1.00[EUR][1000 genomes]
rs4364502	1.00[EUR][1000 genomes]
rs57360253	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57902986	1.00[EUR][1000 genomes]
rs58152229	1.00[EUR][1000 genomes]
rs59256092	0.87[AMR][1000 genomes]
rs60896767	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61620395	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6570629	1.00[EUR][1000 genomes]
rs6570631	1.00[EUR][1000 genomes]
rs6929203	1.00[EUR][1000 genomes]
rs73594975	0.87[AMR][1000 genomes]
rs73594978	0.87[AMR][1000 genomes]
rs73597053	0.87[AMR][1000 genomes]
rs73597078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73597094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598970	1.00[EUR][1000 genomes]
rs73598995	1.00[EUR][1000 genomes]
rs7740206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7747024	1.00[EUR][1000 genomes]
rs9321975	1.00[EUR][1000 genomes]
rs9496969	1.00[EUR][1000 genomes]
rs9496970	1.00[EUR][1000 genomes]
rs9496973	1.00[EUR][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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv527525	chr6:144719765-144737670	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886739	chr6:144719765-144796516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144719200-144736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:144719400-144737000	Weak transcription	Spleen	Spleen
3	chr6:144719600-144736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:144719600-144736400	Weak transcription	HSMM	muscle
5	chr6:144719600-144744000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:144719800-144743000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:144719800-144744400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:144720000-144743200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:144720000-144758200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:144720200-144744000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:144721000-144736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:144722400-144744000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:144723000-144736800	Weak transcription	Right Ventricle	heart
14	chr6:144723200-144735800	Weak transcription	Pancreas	Pancrea
15	chr6:144723200-144736800	Weak transcription	Lung	lung
16	chr6:144723200-144737000	Weak transcription	Right Atrium	heart
17	chr6:144723200-144743000	Weak transcription	Liver	Liver
18	chr6:144726800-144736200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:144726800-144745200	Weak transcription	Fetal Stomach	stomach
20	chr6:144727000-144743000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:144727400-144743000	Weak transcription	Dnd41	blood
22	chr6:144728200-144744400	Weak transcription	Esophagus	oesophagus
23	chr6:144728400-144736000	Weak transcription	Fetal Heart	heart
24	chr6:144728400-144740000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:144728600-144736200	Weak transcription	HUVEC	blood vessel
26	chr6:144728600-144743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:144729600-144743000	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:144729600-144744000	Weak transcription	Ovary	ovary
29	chr6:144729600-144744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:144729800-144761400	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:144730000-144736000	Weak transcription	NHLF	lung
32	chr6:144730600-144736600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:144731000-144736200	Weak transcription	Adipose Nuclei	Adipose
34	chr6:144731000-144736800	Weak transcription	Psoas Muscle	Psoas
35	chr6:144731200-144738400	Weak transcription	Small Intestine	intestine
36	chr6:144733000-144736200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:144733000-144736800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:144733000-144737600	Weak transcription	HSMMtube	muscle
39	chr6:144733000-144739800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr6:144733000-144742800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:144733000-144743000	Weak transcription	GM12878-XiMat	blood
42	chr6:144733000-144744000	Weak transcription	Gastric	stomach
43	chr6:144733200-144735800	Weak transcription	HepG2	liver
44	chr6:144733200-144736000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:144733200-144736200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:144733200-144736200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:144733200-144736400	Weak transcription	NH-A	brain
48	chr6:144733200-144736800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:144733200-144736800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:144733200-144740000	Weak transcription	Primary T cells from cord blood	blood

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