Variant report

Variant	rs2501936
Chromosome Location	chr9:78987999-78988000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:78987493..78989026-chr9:79006994..79008780,2	K562	blood:
2	chr9:78981679..78983727-chr9:78987229..78989632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135002	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1575554	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17062606	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs2247444	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2247805	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2247914	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490578	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2490580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490581	0.86[EUR][1000 genomes]
rs2490585	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2490587	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2501921	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2501924	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2501926	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2501931	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3739517	1.00[MEX][hapmap]
rs587766	1.00[CEU][hapmap]
rs597285	0.82[CEU][hapmap]
rs615928	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs7033581	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs767364	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78969200-78988000	Weak transcription	Aorta	Aorta
2	chr9:78980400-78990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:78981600-78988000	Weak transcription	K562	blood
4	chr9:78983800-78989000	Enhancers	Fetal Lung	lung
5	chr9:78984400-78989600	Enhancers	Hela-S3	cervix
6	chr9:78984600-78993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:78984800-78989800	Weak transcription	Left Ventricle	heart
8	chr9:78985000-78988000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:78985000-78988000	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:78985000-78989000	Weak transcription	Pancreas	Pancrea
11	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:78985000-78989800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:78985600-78989600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:78986000-78990400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:78986400-78988000	Enhancers	Colonic Mucosa	Colon
17	chr9:78986600-78988000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:78986600-78988600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr9:78986600-79008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:78986800-78988200	Enhancers	Stomach Smooth Muscle	stomach
21	chr9:78986800-78988600	Enhancers	Osteobl	bone
22	chr9:78986800-78988800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr9:78986800-78989000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:78986800-78989000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:78986800-78989000	Enhancers	NH-A	brain
26	chr9:78986800-78989200	Enhancers	Ovary	ovary
27	chr9:78986800-78990400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr9:78986800-78990600	Enhancers	Liver	Liver
29	chr9:78986800-78990800	Enhancers	Fetal Intestine Large	intestine
30	chr9:78986800-78990800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr9:78986800-78991000	Enhancers	Fetal Stomach	stomach
32	chr9:78987000-78988000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:78987000-78988000	Weak transcription	Gastric	stomach
34	chr9:78987000-78988200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:78987000-78988200	Enhancers	Fetal Heart	heart
36	chr9:78987000-78988200	Enhancers	HSMMtube	muscle
37	chr9:78987000-78988800	Enhancers	Brain Anterior Caudate	brain
38	chr9:78987000-78989000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:78987000-78989000	Flanking Active TSS	A549	lung
40	chr9:78987000-78989200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:78987000-78989400	Weak transcription	Lung	lung
42	chr9:78987000-78990000	Enhancers	Small Intestine	intestine
43	chr9:78987000-78990200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr9:78987000-78990600	Enhancers	Colon Smooth Muscle	Colon
45	chr9:78987000-78990600	Enhancers	Fetal Intestine Small	intestine
46	chr9:78987000-78990600	Enhancers	HepG2	liver
47	chr9:78987000-78991000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:78987200-78988400	Enhancers	Adipose Nuclei	Adipose
49	chr9:78987200-78988400	Enhancers	NHDF-Ad	bronchial
50	chr9:78987200-78988600	Enhancers	Fetal Kidney	kidney

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