Variant report

Variant	rs10197317
Chromosome Location	chr2:169634956-169634957
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	chr2:169630763..169636990-chr2:169638094..169645299,10	K562	blood:
2	chr2:169632772..169636827-chr2:169642052..169645299,4	K562	blood:

Variant related genes	Relation type
ENSG00000227617	Chromatin interaction
ENSG00000163072	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1063729	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12692887	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732030	0.82[ASN][1000 genomes]
rs3843327	0.85[ASN][1000 genomes]
rs3914919	0.84[ASN][1000 genomes]
rs57805112	0.95[ASN][1000 genomes]
rs61386309	0.89[ASN][1000 genomes]
rs6433090	0.84[ASN][1000 genomes]
rs6433091	0.88[ASN][1000 genomes]
rs7584527	0.84[ASN][1000 genomes]
rs9287901	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169597200-169635800	Weak transcription	Ovary	ovary
2	chr2:169609200-169636400	Weak transcription	Lung	lung
3	chr2:169610800-169637400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:169611200-169636600	Weak transcription	HepG2	liver
5	chr2:169622200-169641400	Weak transcription	Small Intestine	intestine
6	chr2:169625600-169635400	Weak transcription	Fetal Stomach	stomach
7	chr2:169626800-169641800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:169627800-169636600	Weak transcription	Fetal Kidney	kidney
9	chr2:169628000-169637000	Weak transcription	Hela-S3	cervix
10	chr2:169631000-169636400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:169631000-169637600	Weak transcription	Brain Germinal Matrix	brain
12	chr2:169631200-169637600	Weak transcription	Fetal Heart	heart
13	chr2:169632600-169637000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:169632800-169636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:169632800-169636800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:169632800-169637800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:169632800-169638000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:169634000-169637400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:169634200-169635800	Weak transcription	Pancreas	Pancrea
20	chr2:169634200-169637600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:169634200-169643000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:169634800-169635000	Active TSS	Primary T cells from cord blood	blood

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