Variant report

Variant	rs12613769
Chromosome Location	chr2:10742290-10742291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10736979..10739300-chr2:10740230..10742521,2	MCF-7	breast:
2	chr2:10740566..10743461-chr2:10828315..10830187,2	K562	blood:

Variant related genes	Relation type
ENSG00000115761	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10084172	0.80[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10166765	0.91[ASN][1000 genomes]
rs10167779	0.90[ASN][1000 genomes]
rs10168351	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168852	0.90[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174605	0.91[ASN][1000 genomes]
rs10175555	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10175884	0.89[ASN][1000 genomes]
rs10177062	0.88[ASN][1000 genomes]
rs10178751	0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179854	0.81[ASN][1000 genomes]
rs10182589	0.91[ASN][1000 genomes]
rs10183359	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183883	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10186984	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187659	0.87[ASN][1000 genomes]
rs10188373	0.89[ASN][1000 genomes]
rs10190673	0.89[ASN][1000 genomes]
rs10190774	0.89[ASN][1000 genomes]
rs10198971	0.89[ASN][1000 genomes]
rs10199635	0.83[ASN][1000 genomes]
rs10199831	0.91[ASN][1000 genomes]
rs10202370	0.90[ASN][1000 genomes]
rs10207885	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208103	0.91[ASN][1000 genomes]
rs10211190	0.91[ASN][1000 genomes]
rs10803724	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10803725	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929677	0.89[ASN][1000 genomes]
rs10929678	0.91[ASN][1000 genomes]
rs10929679	0.91[ASN][1000 genomes]
rs10929680	0.91[ASN][1000 genomes]
rs10929681	0.85[CHB][hapmap];0.91[ASN][1000 genomes]
rs10929683	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929684	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929685	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680664	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684537	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104950	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12329184	0.91[ASN][1000 genomes]
rs12473787	0.87[ASN][1000 genomes]
rs12473957	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12475662	0.88[ASN][1000 genomes]
rs12476554	0.90[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618726	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621977	0.91[ASN][1000 genomes]
rs12622053	0.91[ASN][1000 genomes]
rs12690510	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12692412	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs12692414	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12692420	0.80[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12995465	0.89[ASN][1000 genomes]
rs12996735	0.89[ASN][1000 genomes]
rs13009015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13027316	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13407040	0.80[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13424648	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13425171	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427815	0.86[ASN][1000 genomes]
rs13430911	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861299	0.80[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861300	0.88[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2024432	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024433	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160258	0.89[ASN][1000 genomes]
rs2884232	0.89[ASN][1000 genomes]
rs34595606	0.91[ASN][1000 genomes]
rs35859525	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55750243	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62127189	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62127197	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62128635	0.91[ASN][1000 genomes]
rs6711473	0.91[ASN][1000 genomes]
rs6714787	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717431	0.91[ASN][1000 genomes]
rs6720112	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6721857	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6722126	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6730247	0.91[ASN][1000 genomes]
rs6732429	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740245	0.80[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751436	0.91[ASN][1000 genomes]
rs6755281	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs744809	0.80[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7572489	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7589694	0.88[ASN][1000 genomes]
rs759401	0.87[ASN][1000 genomes]
rs7598541	0.88[ASN][1000 genomes]
rs9287718	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9287721	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9973374	0.89[ASN][1000 genomes]
rs9973456	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:10719800-10746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:10720000-10746400	Strong transcription	Dnd41	blood
4	chr2:10721000-10755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:10721200-10746800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:10725600-10744000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10725600-10758800	Weak transcription	Stomach Mucosa	stomach
8	chr2:10725600-10793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:10725800-10787000	Weak transcription	Fetal Heart	heart
10	chr2:10726000-10746200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:10726000-10747600	Strong transcription	HepG2	liver
12	chr2:10729200-10754200	Weak transcription	NHLF	lung
13	chr2:10729200-10760000	Weak transcription	Brain Angular Gyrus	brain
14	chr2:10729400-10781800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:10729800-10744800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:10730000-10747600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:10730800-10774400	Weak transcription	Psoas Muscle	Psoas
19	chr2:10731400-10752000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:10732000-10777600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:10732600-10747800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:10732600-10754400	Weak transcription	Brain Germinal Matrix	brain
23	chr2:10733600-10747400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:10734000-10746200	Weak transcription	Gastric	stomach
25	chr2:10735800-10742600	Strong transcription	Fetal Thymus	thymus
26	chr2:10735800-10747600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:10736000-10747600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:10736200-10747600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:10736400-10747600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:10736600-10746600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:10736600-10746800	Strong transcription	Primary T cells from cord blood	blood
32	chr2:10736600-10747600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:10737000-10747000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:10737000-10755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:10737400-10744000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:10737400-10746400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:10737400-10746600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:10737600-10747600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:10738000-10743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:10738000-10744400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:10738400-10766600	Weak transcription	Fetal Kidney	kidney
42	chr2:10738800-10750400	Weak transcription	HUVEC	blood vessel
43	chr2:10738800-10754600	Weak transcription	HMEC	breast
44	chr2:10739200-10743400	Strong transcription	Placenta	Placenta
45	chr2:10739200-10744000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:10739200-10746800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:10739400-10745800	Weak transcription	Small Intestine	intestine
48	chr2:10739800-10742600	Strong transcription	Ovary	ovary
49	chr2:10739800-10744000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:10739800-10747600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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