Variant report

Variant	rs3759931
Chromosome Location	chr16:81072440-81072441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81072287..81074063-chr16:81088613..81090829,2	K562	blood:
2	chr16:81070898..81072766-chr16:81109747..81111312,2	MCF-7	breast:
3	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
4	chr16:81068310..81071293-chr16:81072010..81074075,3	K562	blood:
5	chr16:81039321..81041372-chr16:81071649..81073188,2	K562	blood:

Variant related genes	Relation type
ENSG00000245059	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000261141	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166454	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs12918103	1.00[EUR][1000 genomes]
rs12919463	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12919980	1.00[EUR][1000 genomes]
rs12920066	1.00[EUR][1000 genomes]
rs12921900	1.00[EUR][1000 genomes]
rs12921990	1.00[EUR][1000 genomes]
rs12922449	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12924715	1.00[EUR][1000 genomes]
rs12924719	1.00[EUR][1000 genomes]
rs12928381	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12928648	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12928790	1.00[EUR][1000 genomes]
rs12929250	1.00[EUR][1000 genomes]
rs12930046	1.00[EUR][1000 genomes]
rs12930202	1.00[EUR][1000 genomes]
rs12931555	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12931678	1.00[EUR][1000 genomes]
rs12931766	1.00[EUR][1000 genomes]
rs12931852	1.00[EUR][1000 genomes]
rs12932119	1.00[EUR][1000 genomes]
rs12932272	1.00[EUR][1000 genomes]
rs12932466	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12933920	1.00[EUR][1000 genomes]
rs13329702	1.00[EUR][1000 genomes]
rs13333603	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13336113	1.00[EUR][1000 genomes]
rs16954505	0.97[ASN][1000 genomes]
rs2241408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278023	0.86[ASN][1000 genomes]
rs2303214	1.00[EUR][1000 genomes]
rs2549893	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34075739	1.00[EUR][1000 genomes]
rs34082687	1.00[EUR][1000 genomes]
rs34105513	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34262209	1.00[EUR][1000 genomes]
rs34270219	1.00[EUR][1000 genomes]
rs34277507	1.00[EUR][1000 genomes]
rs34529307	1.00[EUR][1000 genomes]
rs34545373	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34586837	1.00[EUR][1000 genomes]
rs34638844	1.00[EUR][1000 genomes]
rs34699659	1.00[EUR][1000 genomes]
rs34966856	1.00[EUR][1000 genomes]
rs34992819	1.00[EUR][1000 genomes]
rs35011155	1.00[EUR][1000 genomes]
rs35035454	0.87[EUR][1000 genomes]
rs35110550	1.00[EUR][1000 genomes]
rs35117857	1.00[EUR][1000 genomes]
rs35161190	1.00[EUR][1000 genomes]
rs35282277	1.00[EUR][1000 genomes]
rs35292442	1.00[EUR][1000 genomes]
rs35552248	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35674322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35887664	1.00[EUR][1000 genomes]
rs35890164	1.00[EUR][1000 genomes]
rs35899445	1.00[EUR][1000 genomes]
rs36040615	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36052656	1.00[EUR][1000 genomes]
rs36056886	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36099793	1.00[EUR][1000 genomes]
rs57203494	1.00[EUR][1000 genomes]
rs71400131	1.00[EUR][1000 genomes]
rs71400134	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71400135	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71400136	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71400137	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71400138	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71400140	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71400141	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71400142	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7200400	0.89[EUR][1000 genomes]
rs7202356	1.00[EUR][1000 genomes]
rs73582605	0.87[EUR][1000 genomes]
rs754428	0.89[EUR][1000 genomes]
rs804893	1.00[EUR][1000 genomes]
rs8049650	0.87[EUR][1000 genomes]
rs8062810	1.00[EUR][1000 genomes]
rs8177862	1.00[EUR][1000 genomes]
rs8177863	1.00[EUR][1000 genomes]
rs8177878	1.00[EUR][1000 genomes]
rs8177891	1.00[EUR][1000 genomes]
rs8177919	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8177938	1.00[EUR][1000 genomes]
rs9922227	1.00[EUR][1000 genomes]
rs9930427	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
7	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
9	nsv995083	chr16:81050917-81076406	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81070400-81072600	Weak transcription	Esophagus	oesophagus
2	chr16:81070600-81072600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr16:81070600-81072800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr16:81070600-81073800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:81070600-81075800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:81070800-81072600	Enhancers	Pancreas	Pancrea
7	chr16:81070800-81073400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr16:81070800-81073800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:81070800-81081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:81071000-81072600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:81071000-81072800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr16:81071000-81072800	Genic enhancers	Left Ventricle	heart
13	chr16:81071000-81074000	Weak transcription	Primary B cells from cord blood	blood
14	chr16:81071000-81074600	Enhancers	Brain Substantia Nigra	brain
15	chr16:81071000-81074600	Weak transcription	HSMM	muscle
16	chr16:81071000-81075200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:81071000-81075200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:81071000-81075400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:81071000-81075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:81071000-81075800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:81071000-81076400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr16:81071000-81079800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:81071200-81072600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:81071200-81072600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr16:81071200-81072600	Weak transcription	Gastric	stomach
26	chr16:81071200-81072600	Weak transcription	GM12878-XiMat	blood
27	chr16:81071200-81072800	Strong transcription	Fetal Intestine Small	intestine
28	chr16:81071200-81073000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:81071200-81073000	Weak transcription	Fetal Brain Female	brain
30	chr16:81071200-81073400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr16:81071200-81073400	Weak transcription	NH-A	brain
32	chr16:81071200-81073600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr16:81071200-81073600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:81071200-81073800	Weak transcription	Fetal Thymus	thymus
35	chr16:81071200-81073800	Weak transcription	Small Intestine	intestine
36	chr16:81071200-81074000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:81071200-81074000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:81071200-81074000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:81071200-81074200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:81071200-81074200	Enhancers	Brain Angular Gyrus	brain
41	chr16:81071200-81074200	Enhancers	Brain Hippocampus Middle	brain
42	chr16:81071200-81074200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr16:81071200-81074400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr16:81071200-81074400	Weak transcription	Primary T cells from cord blood	blood
45	chr16:81071200-81074400	Weak transcription	Liver	Liver
46	chr16:81071200-81074400	Weak transcription	HMEC	breast
47	chr16:81071200-81074400	Weak transcription	HUVEC	blood vessel
48	chr16:81071200-81074600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:81071200-81074600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr16:81071200-81074600	Weak transcription	Rectal Mucosa Donor 29	rectum

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