Variant report

Variant	rs12149092
Chromosome Location	chr16:71799347-71799348
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	chr16:71795022..71797414-chr16:71798658..71803314,4	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10083757	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10220961	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459804	0.80[ASN][1000 genomes]
rs10775326	0.81[EUR][1000 genomes]
rs11075895	0.83[EUR][1000 genomes]
rs11075900	0.94[ASN][1000 genomes]
rs11075902	0.87[ASN][1000 genomes]
rs11640725	0.82[ASN][1000 genomes]
rs11641873	0.90[ASN][1000 genomes]
rs11645467	0.91[ASN][1000 genomes]
rs11646635	0.91[ASN][1000 genomes]
rs11646748	0.91[ASN][1000 genomes]
rs11647873	0.82[EUR][1000 genomes]
rs11859729	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11865683	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11866795	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12149496	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12149873	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12447856	0.94[ASN][1000 genomes]
rs12448226	0.81[ASN][1000 genomes]
rs12597065	0.84[ASN][1000 genomes]
rs12598902	0.81[ASN][1000 genomes]
rs12920243	0.95[ASN][1000 genomes]
rs12922859	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12923644	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12925587	0.86[ASN][1000 genomes]
rs12926987	0.82[ASN][1000 genomes]
rs12928187	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12930206	0.95[ASN][1000 genomes]
rs12930418	0.83[EUR][1000 genomes]
rs12935426	0.80[ASN][1000 genomes]
rs13380425	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1392483	0.88[ASN][1000 genomes]
rs1392487	0.85[ASN][1000 genomes]
rs2010428	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036337	0.91[ASN][1000 genomes]
rs2036338	0.94[ASN][1000 genomes]
rs2270829	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270830	0.92[ASN][1000 genomes]
rs2270831	0.93[ASN][1000 genomes]
rs2270832	0.93[ASN][1000 genomes]
rs2278031	0.85[ASN][1000 genomes]
rs2335716	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28439683	0.82[ASN][1000 genomes]
rs28582831	0.81[ASN][1000 genomes]
rs28704189	0.85[ASN][1000 genomes]
rs34158217	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34161748	0.82[ASN][1000 genomes]
rs34734042	0.84[ASN][1000 genomes]
rs35173463	0.91[ASN][1000 genomes]
rs35939203	0.83[EUR][1000 genomes]
rs3751817	0.85[ASN][1000 genomes]
rs3886515	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4444347	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4788442	0.91[ASN][1000 genomes]
rs4788549	0.82[ASN][1000 genomes]
rs4788551	0.85[ASN][1000 genomes]
rs4788552	0.85[ASN][1000 genomes]
rs4788554	0.94[ASN][1000 genomes]
rs4788558	0.86[ASN][1000 genomes]
rs4788826	0.81[ASN][1000 genomes]
rs4788827	0.81[ASN][1000 genomes]
rs60881203	0.82[ASN][1000 genomes]
rs6499532	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499539	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7185997	0.94[ASN][1000 genomes]
rs7186859	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7187877	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7191593	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7192956	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7195840	0.82[EUR][1000 genomes]
rs7196498	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7201228	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7201754	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7202288	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7203168	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7203216	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7203231	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7404381	0.95[ASN][1000 genomes]
rs7501228	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8048057	0.81[ASN][1000 genomes]
rs8048210	0.81[ASN][1000 genomes]
rs8051760	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8052489	0.81[ASN][1000 genomes]
rs8052999	0.90[ASN][1000 genomes]
rs8053070	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8056823	0.81[EUR][1000 genomes]
rs8060867	0.95[ASN][1000 genomes]
rs8061613	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8061970	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8062441	0.93[ASN][1000 genomes]
rs8062477	0.93[ASN][1000 genomes]
rs8063535	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs918721	0.84[ASN][1000 genomes]
rs951453	0.91[ASN][1000 genomes]
rs951939	0.87[ASN][1000 genomes]
rs979789	0.81[EUR][1000 genomes]
rs9921270	0.85[ASN][1000 genomes]
rs9922054	0.85[ASN][1000 genomes]
rs9925069	0.84[ASN][1000 genomes]
rs9925228	0.84[ASN][1000 genomes]
rs9927336	0.81[ASN][1000 genomes]
rs9927437	0.82[ASN][1000 genomes]
rs9936903	0.82[ASN][1000 genomes]
rs9937280	0.82[ASN][1000 genomes]
rs9939455	0.94[ASN][1000 genomes]
rs9940217	0.81[ASN][1000 genomes]
rs9940707	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9940990	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71763200-71799800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:71763400-71802200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:71763600-71800000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:71763600-71801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:71763800-71799600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:71763800-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:71764000-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:71764800-71802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:71770600-71799600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr16:71770800-71799600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:71770800-71813800	Strong transcription	Liver	Liver
18	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
19	chr16:71777200-71799800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
23	chr16:71784000-71811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:71785400-71799800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:71785400-71808800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr16:71786400-71799800	Strong transcription	Adipose Nuclei	Adipose
27	chr16:71786400-71802200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:71786400-71805200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr16:71786600-71809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:71787000-71799800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:71787000-71802200	Strong transcription	Fetal Thymus	thymus
32	chr16:71787200-71799600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr16:71787200-71799800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:71787200-71800000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:71788000-71806600	Weak transcription	Stomach Mucosa	stomach
36	chr16:71789800-71802200	Strong transcription	GM12878-XiMat	blood
37	chr16:71792600-71801000	Weak transcription	Fetal Brain Female	brain
38	chr16:71792600-71806600	Weak transcription	Fetal Brain Male	brain
39	chr16:71792800-71801600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:71792800-71803400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:71792800-71805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:71792800-71809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr16:71792800-71811000	Weak transcription	Small Intestine	intestine
44	chr16:71793200-71808800	Strong transcription	Fetal Intestine Large	intestine
45	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
46	chr16:71793800-71799600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:71794000-71799800	Strong transcription	HepG2	liver
48	chr16:71794000-71808600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr16:71794600-71800800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:71794600-71802200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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