Variant report

Variant	rs12447094
Chromosome Location	chr16:71819581-71819582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71818651..71820416-chr16:71822467..71824853,2	MCF-7	breast:
2	chr16:71819012..71820883-chr16:71842173..71844356,2	MCF-7	breast:
3	chr16:71819159..71821764-chr16:71828955..71831636,2	K562	blood:
4	chr16:71815403..71819721-chr16:71837408..71844213,7	K562	blood:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10500560	0.80[EUR][1000 genomes]
rs11075903	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11640830	0.81[EUR][1000 genomes]
rs11641113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11642526	0.81[ASN][1000 genomes]
rs11642529	0.88[ASN][1000 genomes]
rs11645704	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11645725	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11648483	0.82[EUR][1000 genomes]
rs11861296	0.85[EUR][1000 genomes]
rs12149460	0.85[EUR][1000 genomes]
rs12445161	0.86[EUR][1000 genomes]
rs12446005	0.80[EUR][1000 genomes]
rs12448022	0.85[EUR][1000 genomes]
rs12919271	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12928939	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12933007	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12935106	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34053338	0.85[EUR][1000 genomes]
rs34358623	0.85[EUR][1000 genomes]
rs34531032	0.84[EUR][1000 genomes]
rs34731378	0.87[EUR][1000 genomes]
rs34998650	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71386932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7197104	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7202840	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8049163	0.84[EUR][1000 genomes]
rs8051878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8057568	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

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	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:71803000-71823800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:71805000-71823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:71805200-71821200	Weak transcription	K562	blood
11	chr16:71807400-71821400	Weak transcription	Hela-S3	cervix
12	chr16:71807600-71821200	Weak transcription	Fetal Brain Male	brain
13	chr16:71807800-71822600	Weak transcription	Aorta	Aorta
14	chr16:71808000-71820200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:71808000-71829800	Weak transcription	NHLF	lung
16	chr16:71808200-71820200	Weak transcription	Right Ventricle	heart
17	chr16:71808200-71821200	Weak transcription	Colonic Mucosa	Colon
18	chr16:71808400-71828800	Weak transcription	HSMMtube	muscle
19	chr16:71808600-71820600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr16:71808600-71821000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr16:71808800-71821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr16:71810400-71820600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:71810600-71821400	Weak transcription	HUVEC	blood vessel
24	chr16:71811800-71820400	Weak transcription	Small Intestine	intestine
25	chr16:71811800-71820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:71811800-71820600	Weak transcription	Ovary	ovary
27	chr16:71811800-71822400	Weak transcription	Gastric	stomach
28	chr16:71811800-71822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:71811800-71826600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:71812000-71820000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr16:71812000-71820600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr16:71812000-71820600	Weak transcription	Brain Germinal Matrix	brain
33	chr16:71812000-71820600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:71812000-71820800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:71812000-71820800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:71812000-71821400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:71812000-71822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:71812000-71822600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:71812000-71822800	Weak transcription	Spleen	Spleen
40	chr16:71812000-71823000	Weak transcription	Pancreas	Pancrea
41	chr16:71812200-71820600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:71812200-71822200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:71812400-71820200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:71812400-71820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:71812400-71820800	Weak transcription	Fetal Brain Female	brain
46	chr16:71812400-71822400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr16:71812600-71819800	Weak transcription	Fetal Lung	lung
48	chr16:71812600-71822400	Weak transcription	Esophagus	oesophagus
49	chr16:71812600-71825800	Weak transcription	Right Atrium	heart
50	chr16:71813000-71821800	Weak transcription	Primary T cells from cord blood	blood

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