Variant report

Variant	rs12930418
Chromosome Location	chr16:71698272-71698273
allele	A/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	GATA3	chr16:71697480-71698335	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr16:71697479-71698308	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71696881..71698945-chr16:71757287..71759170,2	MCF-7	breast:
2	chr16:71697444..71699494-chr16:71756866..71759011,2	MCF-7	breast:
3	chr16:71659983..71661516-chr16:71697596..71700523,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-208P	TF binding region
PHLPP2	TF binding region
ENSG00000260593	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000261513	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10083757	0.82[EUR][1000 genomes]
rs1035545	0.84[ASN][1000 genomes]
rs10500559	0.94[ASN][1000 genomes]
rs1058747	0.93[ASN][1000 genomes]
rs10775326	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075890	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11075895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11647873	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11648240	0.81[ASN][1000 genomes]
rs11648674	0.81[ASN][1000 genomes]
rs11859729	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11865683	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11866795	0.81[EUR][1000 genomes]
rs12051443	0.93[ASN][1000 genomes]
rs12051449	0.91[ASN][1000 genomes]
rs12051506	0.94[ASN][1000 genomes]
rs12149092	0.83[EUR][1000 genomes]
rs12149496	0.81[EUR][1000 genomes]
rs12149873	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12444484	0.84[ASN][1000 genomes]
rs12922859	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12923644	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12927320	0.92[ASN][1000 genomes]
rs12928187	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12932850	0.87[ASN][1000 genomes]
rs13380425	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1582589	0.94[ASN][1000 genomes]
rs2010428	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2032920	0.81[ASN][1000 genomes]
rs2270829	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2303224	0.93[ASN][1000 genomes]
rs2334879	0.83[ASN][1000 genomes]
rs2335716	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34764568	0.84[ASN][1000 genomes]
rs35939203	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3752681	0.93[ASN][1000 genomes]
rs3829537	0.82[ASN][1000 genomes]
rs3886515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3925658	0.81[ASN][1000 genomes]
rs4444347	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788546	0.81[ASN][1000 genomes]
rs4788809	0.82[ASN][1000 genomes]
rs4788812	0.81[ASN][1000 genomes]
rs4788821	0.84[ASN][1000 genomes]
rs57997630	0.91[ASN][1000 genomes]
rs62053107	0.91[ASN][1000 genomes]
rs62053108	0.81[ASN][1000 genomes]
rs6499532	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6499539	0.82[EUR][1000 genomes]
rs7186859	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7187877	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7188406	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7191593	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7192956	0.83[EUR][1000 genomes]
rs7195840	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7196498	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7201228	0.83[EUR][1000 genomes]
rs7201754	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7202288	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7203168	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7203216	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8051760	0.82[EUR][1000 genomes]
rs8053070	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8056823	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8061613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8061970	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8063535	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8203	0.93[ASN][1000 genomes]
rs979789	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9940707	0.83[EUR][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	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
3	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:71674800-71704600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
6	chr16:71681200-71710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:71681200-71716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:71683800-71704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:71684000-71704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
12	chr16:71685400-71718800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:71686200-71705400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:71686800-71703000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr16:71686800-71717200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:71687000-71700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:71687800-71725000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:71688600-71703400	Weak transcription	Pancreas	Pancrea
20	chr16:71688600-71704000	Weak transcription	Gastric	stomach
21	chr16:71689000-71703200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:71689000-71710000	Weak transcription	Thymus	Thymus
23	chr16:71690600-71699400	Weak transcription	Brain Substantia Nigra	brain
24	chr16:71690600-71700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:71690600-71701000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr16:71690600-71702800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr16:71690600-71703200	Weak transcription	Lung	lung
28	chr16:71690600-71703400	Weak transcription	Right Ventricle	heart
29	chr16:71690600-71706400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:71690600-71708800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:71690600-71709600	Weak transcription	Small Intestine	intestine
32	chr16:71690600-71733600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr16:71690600-71741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:71690800-71699400	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:71690800-71725600	Weak transcription	Fetal Thymus	thymus
36	chr16:71691200-71703800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:71692600-71699400	Weak transcription	A549	lung
38	chr16:71692800-71700000	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:71692800-71701200	Weak transcription	Hela-S3	cervix
40	chr16:71692800-71703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:71693000-71699400	Weak transcription	Fetal Lung	lung
42	chr16:71693000-71699400	Weak transcription	Dnd41	blood
43	chr16:71693000-71699600	Weak transcription	HUVEC	blood vessel
44	chr16:71693000-71700000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:71693000-71700400	Weak transcription	HSMMtube	muscle
46	chr16:71693000-71700600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:71693000-71701000	Weak transcription	Brain Angular Gyrus	brain
48	chr16:71693000-71702800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:71693000-71703000	Weak transcription	NHLF	lung
50	chr16:71693000-71704000	Weak transcription	Fetal Heart	heart

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