Variant report

Variant	rs57238201
Chromosome Location	chr9:136800511-136800512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136784893..136788377-chr9:136799108..136802562,3	MCF-7	breast:
2	chr9:136745470..136748380-chr9:136799363..136801099,3	MCF-7	breast:
3	chr9:136796323..136798053-chr9:136800214..136801741,2	K562	blood:
4	chr9:136799983..136801681-chr9:136809502..136811827,2	MCF-7	breast:
5	chr9:136794454..136797160-chr9:136800180..136802224,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10993867	0.81[ASN][1000 genomes]
rs10993868	0.84[ASN][1000 genomes]
rs2492056	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780786	0.92[ASN][1000 genomes]
rs56766962	0.88[ASN][1000 genomes]
rs57607949	0.96[ASN][1000 genomes]
rs57945847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027703	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7036180	0.96[ASN][1000 genomes]
rs7046600	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv894127	chr9:136747832-136811772	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv615741	chr9:136785840-136807283	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv894131	chr9:136792765-136906752	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
2	chr9:136774800-136802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:136781200-136802200	Weak transcription	Hela-S3	cervix
4	chr9:136781200-136804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:136782000-136809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:136783800-136801000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:136783800-136802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:136784000-136819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:136788200-136802000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:136790000-136802000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:136792000-136802000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr9:136794000-136800800	Weak transcription	HMEC	breast
13	chr9:136794000-136807400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:136795000-136800600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:136795000-136802200	Weak transcription	GM12878-XiMat	blood
16	chr9:136795600-136808600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:136796800-136802200	Weak transcription	Primary B cells from cord blood	blood
18	chr9:136796800-136805600	Weak transcription	Fetal Heart	heart
19	chr9:136797200-136802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:136797200-136802600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:136797200-136804000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:136797400-136804600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr9:136797600-136802200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:136797800-136811000	Weak transcription	A549	lung
25	chr9:136798000-136800600	Weak transcription	Spleen	Spleen
26	chr9:136798000-136802400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:136798200-136800600	Weak transcription	Ovary	ovary
28	chr9:136798400-136800600	Weak transcription	Right Atrium	heart
29	chr9:136798600-136800600	Weak transcription	HUVEC	blood vessel
30	chr9:136798800-136800800	Weak transcription	Gastric	stomach
31	chr9:136799200-136800800	Enhancers	Stomach Mucosa	stomach
32	chr9:136799200-136802000	Weak transcription	Fetal Kidney	kidney
33	chr9:136799200-136802400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:136799400-136801200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr9:136799400-136801400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:136799400-136805800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:136799600-136800600	Weak transcription	Fetal Lung	lung
38	chr9:136799600-136800600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr9:136799600-136801000	Enhancers	Brain Substantia Nigra	brain
40	chr9:136799600-136801000	Enhancers	Duodenum Mucosa	Duodenum
41	chr9:136799600-136801200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:136799600-136801200	Enhancers	Brain Hippocampus Middle	brain
43	chr9:136799600-136801800	Enhancers	Fetal Intestine Large	intestine
44	chr9:136799600-136801800	Enhancers	Fetal Muscle Leg	muscle
45	chr9:136799600-136802000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr9:136799600-136802000	Enhancers	Fetal Brain Male	brain
47	chr9:136799600-136802200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:136799600-136802200	Genic enhancers	Fetal Intestine Small	intestine
49	chr9:136799600-136802200	Enhancers	Fetal Muscle Trunk	muscle
50	chr9:136799600-136802800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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