Variant report

Variant	rs10046519
Chromosome Location	chr7:112064565-112064566
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111385127..111387426-chr7:112064078..112066608,2	MCF-7	breast:
2	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
3	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
4	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:
5	chr7:112064263..112067040-chr7:112081699..112084325,2	MCF-7	breast:
6	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2188534	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2520470	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2520474	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2520475	0.87[EUR][1000 genomes]
rs2520476	0.87[EUR][1000 genomes]
rs2520482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
2	chr7:112061600-112065400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:112061800-112064600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:112061800-112065200	Enhancers	Fetal Thymus	thymus
5	chr7:112061800-112065800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr7:112063200-112066200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:112063400-112066200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:112063600-112064600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:112063600-112066000	Enhancers	HepG2	liver
10	chr7:112063600-112070000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:112063800-112065600	Weak transcription	NH-A	brain
12	chr7:112064000-112065400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:112064000-112066400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:112064000-112066400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:112064000-112067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:112064000-112067400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:112064200-112065600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:112064200-112088400	Weak transcription	Psoas Muscle	Psoas
19	chr7:112064400-112065200	Weak transcription	Hela-S3	cervix
20	chr7:112064400-112065400	Weak transcription	Pancreas	Pancrea
21	chr7:112064400-112065400	Enhancers	Dnd41	blood
22	chr7:112064400-112065400	Weak transcription	HSMMtube	muscle
23	chr7:112064400-112066400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:112064400-112066400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:112064400-112068200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:112064400-112068600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:112064400-112074800	Weak transcription	A549	lung

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