Variant report

Variant	rs11904481
Chromosome Location	chr2:182678929-182678930
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	chr2:182633341..182635444-chr2:182677151..182679786,2	MCF-7	breast:
3	chr2:182674418..182676903-chr2:182677977..182680829,2	K562	blood:
4	chr2:182676782..182679506-chr2:182680066..182682576,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10173295	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10178791	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884484	1.00[AMR][1000 genomes]
rs11884530	0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898883	0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904385	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs13385387	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391116	0.92[AFR][1000 genomes]
rs13404097	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs13412336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415704	1.00[AMR][1000 genomes]
rs13431885	0.83[YRI][hapmap];1.00[AFR][1000 genomes]
rs28730957	1.00[AMR][1000 genomes]
rs56043868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59024368	1.00[AMR][1000 genomes]
rs59405729	1.00[AMR][1000 genomes]
rs73030974	1.00[AMR][1000 genomes]
rs73030984	1.00[AMR][1000 genomes]
rs73031000	0.93[AFR][1000 genomes]
rs9288070	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288071	1.00[AMR][1000 genomes]
rs9288072	1.00[AMR][1000 genomes]
rs9288075	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9630973	1.00[AMR][1000 genomes]
rs9630988	1.00[AMR][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:50 , 50 per page) page: 1

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

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