Variant report

Variant	rs2504897
Chromosome Location	chr6:12573726-12573727
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	chr6:12571834..12574405-chr6:12601309..12604125,2	MCF-7	breast:
2	chr6:12541568..12543424-chr6:12573453..12575885,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10948081	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970539	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970595	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490447	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2490449	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2504888	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2504892	0.92[ASN][1000 genomes]
rs2504895	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2876277	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4526191	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4535543	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623230	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927894	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7751296	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765505	0.94[ASN][1000 genomes]
rs7770994	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357416	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472034	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9472108	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470801	chr6:12559239-12666093	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv462638	chr6:12569231-12651249	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv600991	chr6:12569231-12651249	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12569800-12577400	Weak transcription	Esophagus	oesophagus
2	chr6:12571000-12575600	Weak transcription	Fetal Brain Male	brain
3	chr6:12571600-12577200	Weak transcription	Fetal Kidney	kidney
4	chr6:12572600-12574000	Enhancers	Fetal Intestine Small	intestine
5	chr6:12572600-12575200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:12572800-12574000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:12573000-12574000	Enhancers	Fetal Intestine Large	intestine
8	chr6:12573000-12574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:12573000-12574600	Enhancers	NHLF	lung
10	chr6:12573000-12575000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:12573200-12573800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:12573200-12573800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:12573200-12573800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:12573200-12573800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:12573200-12573800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:12573200-12573800	Enhancers	Aorta	Aorta
17	chr6:12573200-12573800	Enhancers	Colon Smooth Muscle	Colon
18	chr6:12573200-12573800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr6:12573200-12573800	Enhancers	Small Intestine	intestine
20	chr6:12573200-12573800	Flanking Active TSS	NH-A	brain
21	chr6:12573200-12573800	Flanking Active TSS	NHEK	skin
22	chr6:12573200-12574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:12573200-12574000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:12573200-12574000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:12573200-12574000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:12573200-12574000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:12573200-12574000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:12573200-12574000	Enhancers	Placenta	Placenta
29	chr6:12573200-12574000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:12573200-12574000	Flanking Active TSS	A549	lung
31	chr6:12573200-12574000	Enhancers	Hela-S3	cervix
32	chr6:12573200-12574000	Flanking Active TSS	HSMMtube	muscle
33	chr6:12573200-12574200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:12573200-12575200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:12573200-12579200	Enhancers	NHDF-Ad	bronchial
36	chr6:12573400-12573800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:12573400-12573800	Enhancers	Fetal Heart	heart
38	chr6:12573400-12573800	Enhancers	Psoas Muscle	Psoas
39	chr6:12573400-12573800	Enhancers	Stomach Mucosa	stomach
40	chr6:12573400-12573800	Flanking Active TSS	HMEC	breast
41	chr6:12573400-12574000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:12573400-12574000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:12573400-12574000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:12573400-12574000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:12573400-12577200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:12573600-12573800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:12573600-12573800	Enhancers	Pancreas	Pancrea
48	chr6:12573600-12573800	Flanking Active TSS	HSMM	muscle
49	chr6:12573600-12573800	Flanking Active TSS	HUVEC	blood vessel
50	chr6:12573600-12574000	Enhancers	H1 Cell Line	embryonic stem cell

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