Variant report

Variant	rs12149496
Chromosome Location	chr16:71814057-71814058
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	chr16:71809511..71811368-chr16:71813247..71816023,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10083757	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10220961	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11075895	0.81[EUR][1000 genomes]
rs11075900	0.81[ASN][1000 genomes]
rs11075902	0.88[ASN][1000 genomes]
rs11647873	0.80[EUR][1000 genomes]
rs11859729	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11865683	0.81[EUR][1000 genomes]
rs11866795	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12149092	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12149873	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12447856	0.82[ASN][1000 genomes]
rs12920243	0.81[ASN][1000 genomes]
rs12922859	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12923644	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12925587	0.80[ASN][1000 genomes]
rs12928187	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12930206	0.81[ASN][1000 genomes]
rs12930418	0.81[EUR][1000 genomes]
rs13380425	0.83[EUR][1000 genomes]
rs1392483	0.87[ASN][1000 genomes]
rs2010428	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2036338	0.82[ASN][1000 genomes]
rs2270829	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2335716	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28704189	0.89[ASN][1000 genomes]
rs34158217	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35939203	0.81[EUR][1000 genomes]
rs3886515	0.84[EUR][1000 genomes]
rs4444347	0.87[EUR][1000 genomes]
rs4788554	0.82[ASN][1000 genomes]
rs4788558	0.85[ASN][1000 genomes]
rs6499532	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6499539	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7185997	0.82[ASN][1000 genomes]
rs7186859	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7187877	0.81[EUR][1000 genomes]
rs7191593	0.82[EUR][1000 genomes]
rs7192956	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7195840	0.81[EUR][1000 genomes]
rs7196498	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7201228	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7201754	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7202288	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7203168	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7203216	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7203231	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7404381	0.82[ASN][1000 genomes]
rs7501228	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051760	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8052999	0.81[ASN][1000 genomes]
rs8053070	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8060867	0.81[ASN][1000 genomes]
rs8061613	0.81[EUR][1000 genomes]
rs8061970	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8062441	0.83[ASN][1000 genomes]
rs8062477	0.83[ASN][1000 genomes]
rs8063535	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs951939	0.88[ASN][1000 genomes]
rs9922054	0.91[ASN][1000 genomes]
rs9925069	0.90[ASN][1000 genomes]
rs9939455	0.82[ASN][1000 genomes]
rs9940707	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9940990	0.86[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
4	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
5	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:71803000-71823800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:71805000-71823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71805200-71821200	Weak transcription	K562	blood
13	chr16:71805400-71817400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:71807000-71815600	Weak transcription	Stomach Mucosa	stomach
15	chr16:71807200-71815600	Weak transcription	Fetal Kidney	kidney
16	chr16:71807400-71821400	Weak transcription	Hela-S3	cervix
17	chr16:71807600-71814600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:71807600-71815000	Weak transcription	NH-A	brain
19	chr16:71807600-71815200	Weak transcription	NHDF-Ad	bronchial
20	chr16:71807600-71816600	Weak transcription	Brain Angular Gyrus	brain
21	chr16:71807600-71816600	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:71807600-71817400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:71807600-71821200	Weak transcription	Fetal Brain Male	brain
24	chr16:71807800-71815600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:71807800-71816800	Weak transcription	Brain Anterior Caudate	brain
26	chr16:71807800-71822600	Weak transcription	Aorta	Aorta
27	chr16:71808000-71820200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:71808000-71829800	Weak transcription	NHLF	lung
29	chr16:71808200-71820200	Weak transcription	Right Ventricle	heart
30	chr16:71808200-71821200	Weak transcription	Colonic Mucosa	Colon
31	chr16:71808400-71815400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:71808400-71828800	Weak transcription	HSMMtube	muscle
33	chr16:71808600-71814600	Weak transcription	Colon Smooth Muscle	Colon
34	chr16:71808600-71815400	Weak transcription	Brain Substantia Nigra	brain
35	chr16:71808600-71820600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:71808600-71821000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr16:71808800-71815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:71808800-71821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:71809400-71816000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:71810200-71814400	Weak transcription	Primary B cells from cord blood	blood
41	chr16:71810400-71816000	Weak transcription	HSMM	muscle
42	chr16:71810400-71820600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr16:71810600-71821400	Weak transcription	HUVEC	blood vessel
44	chr16:71811000-71815000	Strong transcription	Fetal Intestine Small	intestine
45	chr16:71811000-71815600	Strong transcription	Fetal Intestine Large	intestine
46	chr16:71811400-71814600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:71811600-71817000	Strong transcription	GM12878-XiMat	blood
48	chr16:71811800-71814600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:71811800-71814600	Weak transcription	Left Ventricle	heart
50	chr16:71811800-71814800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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