Variant report

Variant	rs10857996
Chromosome Location	chr1:113995283-113995284
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113935271..113938235-chr1:113994077..113995754,2	MCF-7	breast:
2	chr1:113995191..113995964-chr1:114220394..114221133,3	MCF-7	breast:
3	chr1:113931751..113937304-chr1:113991927..113997733,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10458458	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10458459	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10857994	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11102627	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11102628	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11102630	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11102636	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11102637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11102638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11102639	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11102640	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11102641	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11102644	0.98[ASN][1000 genomes]
rs11102647	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1112085	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1112543	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs12021500	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12022213	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12022849	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12023641	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12024139	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12025806	0.97[ASN][1000 genomes]
rs12026005	0.97[ASN][1000 genomes]
rs12026682	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12027235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12030900	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12032395	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12033666	0.98[ASN][1000 genomes]
rs12038473	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12038754	0.97[ASN][1000 genomes]
rs12039226	0.98[ASN][1000 genomes]
rs12039669	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12039944	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12043827	0.97[ASN][1000 genomes]
rs12044485	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12045148	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12045559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12046434	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12046450	0.99[ASN][1000 genomes]
rs12046451	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1418607	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1539411	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1573996	0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1936926	0.98[ASN][1000 genomes]
rs1936927	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1936928	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2027536	0.80[EUR][1000 genomes]
rs2027537	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2051083	0.92[ASN][1000 genomes]
rs2359413	0.90[ASN][1000 genomes]
rs28661018	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2884705	0.88[ASN][1000 genomes]
rs4546922	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4838988	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4839320	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4839323	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4839324	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6688827	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs72687938	0.97[ASN][1000 genomes]
rs72687939	0.98[ASN][1000 genomes]
rs72687944	0.98[ASN][1000 genomes]
rs72687947	0.98[ASN][1000 genomes]
rs72687948	0.98[ASN][1000 genomes]
rs72687949	0.98[ASN][1000 genomes]
rs72687960	0.91[ASN][1000 genomes]
rs72687961	0.89[ASN][1000 genomes]
rs7413018	0.94[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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113985000-113999000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:113987800-113996000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113994200-113995400	Enhancers	Stomach Mucosa	stomach
4	chr1:113994200-113996400	Enhancers	HUVEC	blood vessel
5	chr1:113994400-113996600	Enhancers	Liver	Liver
6	chr1:113994400-113996600	Enhancers	A549	lung
7	chr1:113994600-113995400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:113994600-113995400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:113994600-113995400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:113994600-113995400	Weak transcription	Hela-S3	cervix
11	chr1:113994600-113995600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:113994600-113996600	Enhancers	Small Intestine	intestine
13	chr1:113994800-114004400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:113995000-113995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:113995000-113995400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:113995000-113996000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:113995000-113996000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:113995000-113996200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:113995000-113996200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:113995000-113996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:113995000-113996200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:113995200-113995600	Weak transcription	Adipose Nuclei	Adipose
23	chr1:113995200-113995600	Enhancers	Fetal Intestine Large	intestine

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