Variant report

Variant	rs28464304
Chromosome Location	chr9:136999786-136999787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1128044	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11556390	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28410119	0.86[ASN][1000 genomes]
rs28412218	0.97[ASN][1000 genomes]
rs28415637	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28428662	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28438574	0.97[ASN][1000 genomes]
rs28473092	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28475221	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28485659	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28490920	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28498266	0.83[MEX][hapmap]
rs28508246	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28522840	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28549758	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28567437	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28588875	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28604373	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28610236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611335	0.94[ASN][1000 genomes]
rs28635910	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28637447	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28647893	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28648812	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28661406	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28681320	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28695913	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28705801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34417824	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35401074	0.85[ASN][1000 genomes]
rs35715743	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35949820	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36185416	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4358859	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs4744560	0.81[CEU][hapmap];0.95[GIH][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs55874211	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7847227	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv6751	chr9:136967475-137007131	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136994600-136999800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr9:136996600-136999800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:136996600-136999800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:136996600-136999800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:136996600-136999800	Weak transcription	Small Intestine	intestine
6	chr9:136996800-136999800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:136996800-136999800	Weak transcription	Left Ventricle	heart
8	chr9:136997000-136999800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:136997000-136999800	Weak transcription	Psoas Muscle	Psoas
10	chr9:136997000-136999800	Weak transcription	Right Atrium	heart
11	chr9:136997000-137000000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:136997200-136999800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:136997400-136999800	Weak transcription	HSMM	muscle
14	chr9:136997400-137000000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:136997400-137000000	Weak transcription	HSMMtube	muscle
16	chr9:136997600-136999800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:136997800-136999800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:136997800-136999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:136997800-136999800	Weak transcription	Gastric	stomach
20	chr9:136997800-137000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:136998200-136999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:136998600-136999800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:136999000-136999800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:136999000-136999800	Enhancers	Fetal Muscle Leg	muscle
25	chr9:136999000-136999800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:136999000-137000000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr9:136999200-136999800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:136999200-136999800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:136999200-136999800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:136999200-136999800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:136999200-136999800	Enhancers	Stomach Mucosa	stomach
32	chr9:136999200-137000000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:136999200-137000000	Enhancers	Fetal Brain Male	brain
34	chr9:136999200-137000200	Flanking Active TSS	Pancreas	Pancrea
35	chr9:136999200-137000200	Flanking Active TSS	NHEK	skin
36	chr9:136999400-136999800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:136999400-136999800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:136999400-136999800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr9:136999400-136999800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:136999400-136999800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:136999400-136999800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr9:136999400-136999800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr9:136999400-136999800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:136999400-136999800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:136999400-136999800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:136999400-136999800	Enhancers	Adipose Nuclei	Adipose
47	chr9:136999400-136999800	Enhancers	Liver	Liver
48	chr9:136999400-136999800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr9:136999400-136999800	Enhancers	Esophagus	oesophagus
50	chr9:136999400-136999800	Enhancers	Fetal Heart	heart

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