Variant report

Variant	rs74028901
Chromosome Location	chr16:81074338-81074339
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:
2	chr16:81073990..81076535-chr16:81110612..81112776,2	MCF-7	breast:
3	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:

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

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10400998	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10468366	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12456	0.92[ASN][1000 genomes]
rs13332317	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13332530	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16954525	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16954528	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16954688	0.84[ASN][1000 genomes]
rs1869347	0.84[ASN][1000 genomes]
rs2549901	0.84[ASN][1000 genomes]
rs28469459	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28472979	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28586999	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28709530	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55648346	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55664147	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55894951	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56077763	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56117555	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56333013	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56378007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56758545	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56838270	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57435835	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57687812	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57808460	1.00[AMR][1000 genomes]
rs57830624	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57906343	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58418167	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59143415	0.80[AFR][1000 genomes]
rs60277524	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60573779	0.84[ASN][1000 genomes]
rs61343635	1.00[AMR][1000 genomes]
rs61435632	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61438195	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61495305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6564815	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6564816	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7187063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7194808	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7195463	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7197019	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72827277	0.84[ASN][1000 genomes]
rs73597275	0.84[ASN][1000 genomes]
rs73599301	0.84[ASN][1000 genomes]
rs74028889	1.00[AMR][1000 genomes]
rs74028891	1.00[AMR][1000 genomes]
rs74028894	1.00[AMR][1000 genomes]
rs74028898	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74028902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74030503	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74030505	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8045625	0.84[ASN][1000 genomes]
rs8061024	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8061203	0.84[ASN][1000 genomes]
rs8062432	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177846	1.00[EUR][1000 genomes]
rs8177847	0.84[ASN][1000 genomes]
rs8177854	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177857	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177858	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177859	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177860	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177868	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177869	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177870	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177871	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177872	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177873	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177874	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177877	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177879	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177881	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177890	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177893	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177895	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177905	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177907	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177908	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177910	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177913	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177914	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177915	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177917	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177922	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177924	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177926	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177927	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177928	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177929	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177932	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177933	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177934	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177935	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177936	0.84[ASN][1000 genomes]
rs8177937	0.84[ASN][1000 genomes]
rs8177941	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8177949	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9932197	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9934220	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9935938	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9937014	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9937594	1.00[EUR][1000 genomes];0.84[ASN][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	chr16:81070600-81075800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:81070800-81081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81071000-81074600	Enhancers	Brain Substantia Nigra	brain
4	chr16:81071000-81074600	Weak transcription	HSMM	muscle
5	chr16:81071000-81075200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:81071000-81075200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:81071000-81075400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:81071000-81075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:81071000-81075800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:81071000-81076400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr16:81071000-81079800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:81071200-81074400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr16:81071200-81074400	Weak transcription	Primary T cells from cord blood	blood
14	chr16:81071200-81074400	Weak transcription	Liver	Liver
15	chr16:81071200-81074400	Weak transcription	HMEC	breast
16	chr16:81071200-81074400	Weak transcription	HUVEC	blood vessel
17	chr16:81071200-81074600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:81071200-81074600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:81071200-81074600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr16:81071200-81074600	Weak transcription	A549	lung
21	chr16:81071200-81074800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:81071200-81075000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:81071200-81075000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:81071200-81075000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:81071200-81075000	Enhancers	Brain Cingulate Gyrus	brain
26	chr16:81071200-81075000	Weak transcription	Brain Germinal Matrix	brain
27	chr16:81071200-81075000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:81071200-81075000	Weak transcription	Fetal Kidney	kidney
29	chr16:81071200-81075000	Weak transcription	Fetal Lung	lung
30	chr16:81071200-81075000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr16:81071200-81075000	Weak transcription	Right Ventricle	heart
32	chr16:81071200-81075000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr16:81071200-81075000	Weak transcription	HSMMtube	muscle
34	chr16:81071200-81075000	Weak transcription	NHLF	lung
35	chr16:81071200-81075000	Weak transcription	Osteobl	bone
36	chr16:81071200-81075200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr16:81071200-81075200	Weak transcription	Aorta	Aorta
38	chr16:81071200-81075200	Weak transcription	Colonic Mucosa	Colon
39	chr16:81071200-81075200	Weak transcription	NHDF-Ad	bronchial
40	chr16:81071200-81075400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr16:81071200-81080400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:81071200-81080400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr16:81071200-81080600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr16:81071200-81082000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr16:81071200-81082400	Weak transcription	Stomach Mucosa	stomach
46	chr16:81071400-81075000	Weak transcription	Adipose Nuclei	Adipose
47	chr16:81071400-81079400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr16:81071400-81079600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr16:81071400-81079800	Strong transcription	Fetal Intestine Large	intestine
50	chr16:81071600-81080600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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