Variant report

Variant	rs28637447
Chromosome Location	chr9:136997967-136997968
allele	C/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	POLR2A	chr9:136997818-136998088	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:136932101..136934790-chr9:136997116..136999194,2	MCF-7	breast:
2	chr9:136997943..137000936-chr9:137029556..137031957,3	K562	blood:
3	chr9:136996126..136998065-chr9:137029177..137031559,2	MCF-7	breast:

Variant related genes	Relation type
WDR5	TF binding region
ENSG00000221676	Chromatin interaction
ENSG00000169925	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1128044	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11556390	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28410119	0.87[ASN][1000 genomes]
rs28412218	0.98[ASN][1000 genomes]
rs28415637	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28428662	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28438574	0.96[ASN][1000 genomes]
rs28473092	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28475221	0.85[AFR][1000 genomes];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];1.00[ASN][1000 genomes]
rs28490920	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28508246	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28522840	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28549758	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28567437	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28588875	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28604373	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28610236	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28611335	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs28635910	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28647893	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28648812	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28661406	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681320	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681533	0.81[AFR][1000 genomes]
rs28695913	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28705801	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34417824	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35401074	0.84[ASN][1000 genomes]
rs35715743	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35949820	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36185416	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4358859	0.82[EUR][1000 genomes]
rs4744560	0.83[EUR][1000 genomes]
rs55874211	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7847227	0.82[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136991000-136999400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:136994400-136999400	Weak transcription	Primary B cells from cord blood	blood
3	chr9:136994600-136999200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:136994600-136999400	Weak transcription	Spleen	Spleen
5	chr9:136994600-136999800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:136996000-136998000	Enhancers	Pancreas	Pancrea
7	chr9:136996400-136998200	Enhancers	Adipose Nuclei	Adipose
8	chr9:136996400-136999400	Weak transcription	Brain Angular Gyrus	brain
9	chr9:136996400-136999600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:136996400-136999600	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:136996400-136999600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:136996600-136999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:136996600-136999200	Weak transcription	Stomach Mucosa	stomach
14	chr9:136996600-136999400	Weak transcription	Brain Anterior Caudate	brain
15	chr9:136996600-136999400	Weak transcription	Colonic Mucosa	Colon
16	chr9:136996600-136999400	Weak transcription	Placenta	Placenta
17	chr9:136996600-136999600	Weak transcription	Fetal Intestine Small	intestine
18	chr9:136996600-136999600	Weak transcription	A549	lung
19	chr9:136996600-136999800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:136996600-136999800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:136996600-136999800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:136996600-136999800	Weak transcription	Small Intestine	intestine
23	chr9:136996800-136998200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:136996800-136998200	Enhancers	Lung	lung
25	chr9:136996800-136998200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr9:136996800-136998600	Enhancers	Fetal Muscle Leg	muscle
27	chr9:136996800-136999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:136996800-136999000	Weak transcription	NHEK	skin
29	chr9:136996800-136999200	Weak transcription	HMEC	breast
30	chr9:136996800-136999400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:136996800-136999400	Weak transcription	Esophagus	oesophagus
32	chr9:136996800-136999400	Weak transcription	Fetal Heart	heart
33	chr9:136996800-136999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:136996800-136999600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:136996800-136999600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr9:136996800-136999800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:136996800-136999800	Weak transcription	Left Ventricle	heart
38	chr9:136997000-136999200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:136997000-136999400	Weak transcription	Liver	Liver
40	chr9:136997000-136999400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr9:136997000-136999400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr9:136997000-136999600	Weak transcription	Fetal Intestine Large	intestine
43	chr9:136997000-136999600	Weak transcription	Ovary	ovary
44	chr9:136997000-136999600	Weak transcription	Right Ventricle	heart
45	chr9:136997000-136999800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:136997000-136999800	Weak transcription	Psoas Muscle	Psoas
47	chr9:136997000-136999800	Weak transcription	Right Atrium	heart
48	chr9:136997000-137000000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr9:136997200-136998000	Flanking Active TSS	HepG2	liver
50	chr9:136997200-136998200	Enhancers	Fetal Muscle Trunk	muscle

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