Variant report

Variant	rs7595805
Chromosome Location	chr2:182628657-182628658
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:181861032..181863607-chr2:182627462..182629088,2	K562	blood:
2	chr2:182622819..182625911-chr2:182627931..182631069,3	K562	blood:
3	chr2:182622015..182624365-chr2:182627564..182629306,2	MCF-7	breast:
4	chr2:182627954..182630438-chr2:182634967..182637515,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10183527	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10183937	0.85[ASN][1000 genomes]
rs10190772	0.93[ASN][1000 genomes]
rs10803953	0.87[ASN][1000 genomes]
rs10930979	0.91[ASN][1000 genomes]
rs11884097	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886921	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11895376	0.93[ASN][1000 genomes]
rs11901603	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11902910	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13414894	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13415272	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13424337	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13428496	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1343793	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037799	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2368225	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2582999	0.90[ASN][1000 genomes]
rs4018749	0.84[ASN][1000 genomes]
rs57930770	0.85[ASN][1000 genomes]
rs60384758	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6740944	0.85[ASN][1000 genomes]
rs6754481	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7567220	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7567371	0.85[ASN][1000 genomes]
rs9288073	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9288074	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs951542	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs951543	0.88[EUR][1000 genomes];0.97[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182616800-182631000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:182619800-182629000	Weak transcription	Stomach Mucosa	stomach
3	chr2:182625200-182629800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:182626600-182629000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:182627000-182629000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:182627000-182629200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:182627200-182629000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:182627400-182629000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:182627400-182629000	Weak transcription	Pancreas	Pancrea
10	chr2:182627800-182629800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:182627800-182630200	Enhancers	HepG2	liver
12	chr2:182628000-182629000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:182628000-182629600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:182628000-182629600	Enhancers	Fetal Intestine Large	intestine
15	chr2:182628000-182629600	Enhancers	Fetal Intestine Small	intestine
16	chr2:182628000-182629800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:182628200-182629600	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:182628200-182629800	Enhancers	K562	blood
19	chr2:182628400-182629800	Enhancers	Fetal Thymus	thymus

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