Variant report

Variant	rs10170761
Chromosome Location	chr2:37570538-37570539
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:37570490-37571310	HepG2	liver:	n/a	n/a
2	RAD21	chr2:37570536-37570932	A549	lung:	n/a	n/a
3	CTCF	chr2:37570522-37570972	A549	lung:	n/a	n/a
4	CTCF	chr2:37570420-37570570	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr2:37570370-37571499	A549	lung:	n/a	n/a
6	FOXA1	chr2:37570462-37571307	HepG2	liver:	n/a	n/a
7	RAD21	chr2:37570515-37571027	A549	lung:	n/a	n/a
8	RAD21	chr2:37570510-37571044	HCT-116	colon:	n/a	n/a
9	CTCF	chr2:37570520-37570670	GM12864	blood:	n/a	n/a
10	RAD21	chr2:37570531-37571004	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37569565..37571229-chr2:37584533..37586394,2	K562	blood:

Variant related genes	Relation type
QPCT	TF binding region
ENSG00000115828	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1017159	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174658	1.00[ASN][1000 genomes]
rs10197287	1.00[ASN][1000 genomes]
rs10197856	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11124571	1.00[ASN][1000 genomes]
rs11124572	1.00[ASN][1000 genomes]
rs11883585	1.00[ASN][1000 genomes]
rs11886853	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890709	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890754	1.00[ASN][1000 genomes]
rs11892108	1.00[CHB][hapmap]
rs11896614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897904	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899003	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902292	1.00[ASN][1000 genomes]
rs13384958	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392784	1.00[ASN][1000 genomes]
rs13399143	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401288	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401291	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409402	1.00[ASN][1000 genomes]
rs13414561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422798	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424642	1.00[ASN][1000 genomes]
rs13426217	1.00[ASN][1000 genomes]
rs13426239	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426346	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426780	1.00[ASN][1000 genomes]
rs13429945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17410072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110966	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110967	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192945	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255991	0.85[LWK][hapmap]
rs2307472	1.00[CHB][hapmap]
rs2373114	1.00[CHB][hapmap]
rs28655786	1.00[ASN][1000 genomes]
rs28698067	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28710795	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34149238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648150	1.00[CHB][hapmap]
rs4648153	1.00[CHB][hapmap]
rs4648156	1.00[CHB][hapmap]
rs4648166	1.00[CHB][hapmap]
rs4648169	1.00[CHB][hapmap]
rs4648170	1.00[CHB][hapmap]
rs4648171	1.00[CHB][hapmap]
rs59712801	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62133321	1.00[ASN][1000 genomes]
rs62133324	1.00[ASN][1000 genomes]
rs6711685	1.00[ASN][1000 genomes]
rs6715050	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726921	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6727087	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727253	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730342	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6733861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748019	1.00[ASN][1000 genomes]
rs6749793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750015	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752475	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754376	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6754750	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755577	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761515	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792882	1.00[ASN][1000 genomes]
rs7556904	1.00[ASN][1000 genomes]
rs7556959	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558593	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559558	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7573871	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7582067	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590736	1.00[ASN][1000 genomes]
rs759460	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs759668	1.00[CHB][hapmap]
rs7598671	1.00[ASN][1000 genomes]
rs888098	1.00[ASN][1000 genomes]
rs888099	1.00[ASN][1000 genomes]
rs9309005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309006	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37565200-37570600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:37565600-37570600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:37568000-37571600	Weak transcription	Ovary	ovary
4	chr2:37569200-37571200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:37569400-37571400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:37569600-37571000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:37569800-37570800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:37569800-37571200	Enhancers	Fetal Lung	lung
9	chr2:37569800-37571400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:37569800-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:37569800-37571400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:37569800-37571600	Enhancers	Left Ventricle	heart
13	chr2:37570000-37570800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:37570000-37571200	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:37570000-37571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:37570000-37571400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr2:37570000-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:37570000-37571400	Enhancers	HUVEC	blood vessel
19	chr2:37570000-37571400	Enhancers	NH-A	brain
20	chr2:37570200-37570600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:37570200-37570600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:37570200-37571000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:37570200-37571000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:37570200-37571000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:37570200-37571000	Weak transcription	HSMMtube	muscle
26	chr2:37570200-37571400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:37570200-37571400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:37570200-37571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:37570200-37571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:37570200-37571600	Weak transcription	Spleen	Spleen
31	chr2:37570400-37570800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:37570400-37571400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:37570400-37571400	Enhancers	Osteobl	bone
34	chr2:37570400-37571600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:37570400-37571600	Enhancers	HMEC	breast

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