Variant report

Variant	rs2033533
Chromosome Location	chr2:47177787-47177788
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47174154..47179572-chr2:47181486..47185069,4	MCF-7	breast:
2	chr2:47165446..47170208-chr2:47173646..47177856,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000272814	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10202814	0.81[ASN][1000 genomes]
rs12479328	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13401423	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13404033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13426875	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs17035931	0.82[JPT][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169400-47178800	Weak transcription	Ovary	ovary
2	chr2:47169400-47179000	Weak transcription	Gastric	stomach
3	chr2:47169600-47178800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:47169600-47183600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:47169800-47178200	Weak transcription	Fetal Brain Female	brain
6	chr2:47169800-47182000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:47169800-47182200	Weak transcription	Right Ventricle	heart
8	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
9	chr2:47170000-47177800	Weak transcription	Liver	Liver
10	chr2:47170000-47177800	Weak transcription	NH-A	brain
11	chr2:47170000-47178800	Weak transcription	HSMMtube	muscle
12	chr2:47170000-47181600	Weak transcription	HUVEC	blood vessel
13	chr2:47170000-47182200	Weak transcription	Psoas Muscle	Psoas
14	chr2:47170200-47181400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:47170600-47178800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:47170800-47178200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:47170800-47184000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:47171000-47178200	Weak transcription	Colonic Mucosa	Colon
19	chr2:47171000-47178200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:47171000-47178400	Weak transcription	Stomach Mucosa	stomach
21	chr2:47171000-47182600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:47171200-47178800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:47171200-47178800	Weak transcription	NHDF-Ad	bronchial
24	chr2:47171200-47179400	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr2:47171200-47182400	Weak transcription	Small Intestine	intestine
26	chr2:47171400-47179800	Genic enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:47171400-47182000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:47171800-47178200	Weak transcription	Lung	lung
29	chr2:47171800-47181400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:47171800-47181400	Weak transcription	Right Atrium	heart
31	chr2:47173000-47191800	Weak transcription	Fetal Brain Male	brain
32	chr2:47173200-47178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:47173200-47178800	Weak transcription	Brain Germinal Matrix	brain
34	chr2:47173400-47177800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:47173400-47181600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:47173400-47184000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:47173600-47179400	Genic enhancers	Primary B cells from cord blood	blood
38	chr2:47173800-47178000	Weak transcription	HMEC	breast
39	chr2:47174000-47178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:47174000-47179000	Genic enhancers	Primary T cells from cord blood	blood
41	chr2:47174000-47179200	Genic enhancers	Fetal Thymus	thymus
42	chr2:47174000-47182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:47174200-47183800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:47174200-47184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:47174600-47177800	Weak transcription	HSMM	muscle
47	chr2:47174800-47181400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:47175200-47178600	Enhancers	Adipose Nuclei	Adipose
49	chr2:47175600-47181600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:47175800-47179400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood

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