Variant report

Variant	rs11904385
Chromosome Location	chr2:182678745-182678746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182677199..182679031-chr2:182756675..182758841,2	MCF-7	breast:
2	chr2:182675680..182677290-chr2:182677371..182678893,2	MCF-7	breast:
3	chr2:182633341..182635444-chr2:182677151..182679786,2	MCF-7	breast:
4	chr2:182677255..182678837-chr2:182768538..182770841,2	K562	blood:
5	chr2:182674418..182676903-chr2:182677977..182680829,2	K562	blood:
6	chr2:182676782..182679506-chr2:182680066..182682576,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10173295	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11884530	0.86[YRI][hapmap]
rs11898883	0.86[YRI][hapmap]
rs11904481	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs13391116	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13404097	0.86[YRI][hapmap]
rs13412336	0.93[AFR][1000 genomes]
rs13427996	0.83[AMR][1000 genomes]
rs13431885	0.83[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56043868	0.93[AFR][1000 genomes]
rs6759907	1.00[EUR][1000 genomes]
rs73031000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032618	1.00[EUR][1000 genomes]
rs9288075	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182671200-182678800	Weak transcription	NHLF	lung
2	chr2:182671200-182682600	Weak transcription	Fetal Stomach	stomach
3	chr2:182674200-182678800	Weak transcription	Small Intestine	intestine
4	chr2:182675200-182680200	Enhancers	Dnd41	blood
5	chr2:182675400-182679000	Enhancers	HMEC	breast
6	chr2:182675400-182679200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:182675400-182679200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:182675400-182680000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:182676000-182678800	Weak transcription	NHDF-Ad	bronchial
10	chr2:182676000-182680400	Enhancers	Fetal Thymus	thymus
11	chr2:182676200-182678800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:182676200-182680200	Enhancers	Hela-S3	cervix
13	chr2:182676200-182682600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:182676400-182679400	Enhancers	HUVEC	blood vessel
15	chr2:182676800-182679200	Enhancers	Thymus	Thymus
16	chr2:182676800-182679600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:182676800-182679600	Weak transcription	Stomach Mucosa	stomach
18	chr2:182676800-182680200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:182676800-182681200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:182676800-182682400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:182676800-182686400	Weak transcription	Pancreas	Pancrea
22	chr2:182677200-182678800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:182677200-182683600	Weak transcription	Fetal Kidney	kidney
24	chr2:182677400-182678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:182677400-182678800	Weak transcription	HSMMtube	muscle
26	chr2:182677400-182678800	Weak transcription	Osteobl	bone
27	chr2:182677600-182683600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:182677800-182679600	Enhancers	Placenta	Placenta
29	chr2:182678000-182680200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:182678200-182679600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:182678400-182678800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:182678400-182678800	Enhancers	Aorta	Aorta
33	chr2:182678400-182679000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:182678600-182678800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:182678600-182679000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:182678600-182679000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:182678600-182679200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:182678600-182679200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:182678600-182679200	Enhancers	Primary hematopoietic stem cells	blood
40	chr2:182678600-182679200	Enhancers	Fetal Lung	lung
41	chr2:182678600-182679200	Enhancers	HSMM	muscle
42	chr2:182678600-182679200	Enhancers	K562	blood
43	chr2:182678600-182679200	Enhancers	NH-A	brain
44	chr2:182678600-182679600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:182678600-182679600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:182678600-182679600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:182678600-182679600	Enhancers	A549	lung
48	chr2:182678600-182680200	Enhancers	HepG2	liver
49	chr2:182678600-182680800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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