Variant report

Variant	rs2512633
Chromosome Location	chr11:73465503-73465504
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73465079..73468067-chr11:73498878..73500582,2	MCF-7	breast:
2	chr11:73465031..73469665-chr11:73470039..73474084,7	MCF-7	breast:
3	chr11:73463976..73466866-chr11:73470733..73472493,3	MCF-7	breast:
4	chr11:73464912..73467811-chr11:73468593..73470766,3	K562	blood:

Variant related genes	Relation type
ENSG00000175581	Chromatin interaction
ENSG00000175582	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10751228	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1618529	0.91[LWK][hapmap]
rs1621654	0.83[AFR][1000 genomes]
rs1670561	0.91[LWK][hapmap]
rs1670568	1.00[AMR][1000 genomes]
rs1670571	1.00[YRI][hapmap]
rs1723838	0.84[LWK][hapmap]
rs1723845	0.84[LWK][hapmap]
rs1723846	0.84[LWK][hapmap]
rs1723849	0.84[LWK][hapmap]
rs1880643	0.84[LWK][hapmap]
rs1980346	1.00[AMR][1000 genomes]
rs2444598	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444600	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511262	0.91[LWK][hapmap]
rs2512627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2515090	1.00[AMR][1000 genomes]
rs2515095	0.91[LWK][hapmap]
rs28729523	1.00[AMR][1000 genomes]
rs594814	0.91[LWK][hapmap]
rs6592529	0.84[LWK][hapmap]
rs935987	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats 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	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
2	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
3	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
4	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:73430600-73468800	Weak transcription	NHLF	lung
6	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:73441200-73468600	Weak transcription	Dnd41	blood
10	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:73442200-73469600	Weak transcription	HSMM	muscle
12	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:73446400-73468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:73446400-73468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:73446600-73468800	Weak transcription	NHDF-Ad	bronchial
16	chr11:73446800-73468400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:73448200-73468600	Weak transcription	GM12878-XiMat	blood
18	chr11:73448800-73468800	Weak transcription	Fetal Brain Female	brain
19	chr11:73449400-73468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:73449600-73469600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:73451400-73468800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:73451600-73468600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:73456400-73469000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:73457000-73467600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:73459000-73469600	Weak transcription	K562	blood
26	chr11:73459600-73468400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:73459800-73468800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:73460600-73465800	Enhancers	Placenta	Placenta
29	chr11:73460600-73466000	Genic enhancers	Fetal Intestine Small	intestine
30	chr11:73460600-73467800	Enhancers	Fetal Intestine Large	intestine
31	chr11:73461600-73470200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:73461800-73467000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:73461800-73468800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:73461800-73469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:73461800-73469800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:73461800-73470200	Weak transcription	Fetal Stomach	stomach
37	chr11:73462000-73468400	Weak transcription	HUVEC	blood vessel
38	chr11:73462200-73465600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:73462600-73466200	Enhancers	Liver	Liver
40	chr11:73463000-73465800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:73463000-73469000	Weak transcription	HSMMtube	muscle
42	chr11:73463600-73466600	Weak transcription	Spleen	Spleen
43	chr11:73463600-73468400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:73463600-73469400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:73463600-73470000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:73463600-73470600	Weak transcription	Fetal Thymus	thymus
47	chr11:73463600-73470600	Weak transcription	Thymus	Thymus
48	chr11:73463600-73470800	Weak transcription	Gastric	stomach
49	chr11:73463800-73466600	Weak transcription	Right Ventricle	heart
50	chr11:73463800-73467000	Weak transcription	Primary monocytes fromperipheralblood	blood

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