Variant report

Variant	rs60499694
Chromosome Location	chr6:45634566-45634567
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	chr6:45617993..45619581-chr6:45633411..45635573,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1889595	0.92[EUR][1000 genomes]
rs56125920	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56383386	0.90[EUR][1000 genomes]
rs57847751	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58033063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58515711	0.89[ASN][1000 genomes]
rs58899441	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59086975	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60021834	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60653179	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61046945	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61433014	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735894	0.96[EUR][1000 genomes]
rs61735906	0.96[EUR][1000 genomes]
rs6906753	0.87[EUR][1000 genomes]
rs6932213	0.92[EUR][1000 genomes]
rs73444596	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73446524	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73735415	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73735416	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73738524	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7755911	0.92[EUR][1000 genomes]
rs976319	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45630400-45635000	Weak transcription	NHDF-Ad	bronchial
2	chr6:45631000-45635600	Enhancers	NH-A	brain
3	chr6:45631800-45635000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:45631800-45635400	Weak transcription	Esophagus	oesophagus
5	chr6:45631800-45645000	Weak transcription	Colonic Mucosa	Colon
6	chr6:45632000-45634600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:45632000-45635000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:45632000-45635000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:45632000-45635200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:45632000-45643400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:45632200-45634800	Weak transcription	NHLF	lung
12	chr6:45632200-45636600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:45632400-45635200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:45632600-45635600	Strong transcription	HSMM	muscle
15	chr6:45632600-45643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:45633000-45634800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:45633200-45635200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:45633200-45635400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:45633200-45635400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:45633200-45635800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:45633400-45635200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:45633400-45635400	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:45633400-45635600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:45633600-45635000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:45633800-45634600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:45633800-45635200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:45634000-45635000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:45634200-45634600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:45634200-45635000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:45634200-45635200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:45634200-45635400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr6:45634200-45635600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:45634200-45635800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:45634200-45642200	Weak transcription	Fetal Thymus	thymus
35	chr6:45634200-45645200	Weak transcription	Right Atrium	heart
36	chr6:45634400-45634800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:45634400-45635400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:45634400-45635600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:45634400-45635800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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