Variant report

Variant	rs7492
Chromosome Location	chr20:23060257-23060258
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	chr20:23032699..23035331-chr20:23059587..23061154,2	MCF-7	breast:
2	chr20:23059383..23060343-chr20:23215852..23216712,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1040585	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16984890	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs1998081	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1998082	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2144940	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2424508	0.93[ASN][1000 genomes]
rs2424513	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2424514	0.90[ASN][1000 genomes]
rs2424515	0.90[ASN][1000 genomes]
rs2567617	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2749812	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.84[AFR][1000 genomes];0.93[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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23043600-23062200	Weak transcription	Placenta	Placenta
3	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
4	chr20:23050800-23061200	Weak transcription	Esophagus	oesophagus
5	chr20:23053400-23061200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr20:23054000-23063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr20:23055600-23061200	Weak transcription	Primary T cells from cord blood	blood
8	chr20:23055600-23061200	Weak transcription	Spleen	Spleen
9	chr20:23057800-23062000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr20:23058000-23061200	Weak transcription	Right Ventricle	heart
11	chr20:23058400-23061200	Genic enhancers	Monocytes-CD14+_RO01746	blood
12	chr20:23058400-23062400	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr20:23058600-23061600	Enhancers	Brain Germinal Matrix	brain
14	chr20:23058800-23060400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr20:23058800-23061800	Genic enhancers	HUVEC	blood vessel
16	chr20:23059000-23060400	Enhancers	HSMMtube	muscle
17	chr20:23059200-23060400	Enhancers	Fetal Lung	lung
18	chr20:23059200-23061200	Weak transcription	Fetal Muscle Leg	muscle
19	chr20:23059200-23061200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr20:23059200-23062400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:23059800-23061400	Weak transcription	Gastric	stomach
22	chr20:23059800-23061400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr20:23059800-23062000	Weak transcription	Fetal Thymus	thymus
24	chr20:23059800-23062800	Weak transcription	Psoas Muscle	Psoas
25	chr20:23059800-23063400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr20:23060000-23061200	Weak transcription	Left Ventricle	heart
27	chr20:23060000-23061200	Weak transcription	Lung	lung
28	chr20:23060000-23061200	Weak transcription	Right Atrium	heart
29	chr20:23060000-23061800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr20:23060200-23060400	Enhancers	Primary B cells from cord blood	blood
31	chr20:23060200-23060800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:23060200-23061200	Weak transcription	Adipose Nuclei	Adipose
33	chr20:23060200-23063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr20:23060200-23066600	Weak transcription	K562	blood

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