Variant report

Variant	rs11884530
Chromosome Location	chr2:182646558-182646559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182640852..182647278-chr2:182753659..182759466,8	MCF-7	breast:
2	chr2:182641582..182643700-chr2:182645363..182647512,2	MCF-7	breast:
3	chr2:182646086..182659083-chr2:182754079..182762654,36	MCF-7	breast:
4	chr2:182645215..182647741-chr2:182652412..182654174,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10173295	0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10178791	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183369	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884106	0.81[YRI][hapmap]
rs11884484	1.00[AMR][1000 genomes]
rs11889177	0.90[YRI][hapmap]
rs11895507	0.81[YRI][hapmap]
rs11898883	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904385	0.86[YRI][hapmap]
rs11904481	0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404097	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13407158	0.81[YRI][hapmap]
rs13412336	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415704	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13431885	0.80[AFR][1000 genomes]
rs28730957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043868	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59024368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59405729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73030984	1.00[AMR][1000 genomes]
rs9288070	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288075	0.86[YRI][hapmap]
rs9630973	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9630988	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182641800-182649600	Enhancers	Fetal Intestine Large	intestine
2	chr2:182641800-182650000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:182642200-182657200	Enhancers	Hela-S3	cervix
4	chr2:182642400-182646600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:182642400-182647200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:182642400-182647600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:182643400-182646600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:182643400-182646600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:182643400-182646800	Enhancers	HepG2	liver
10	chr2:182643400-182647000	Enhancers	Fetal Intestine Small	intestine
11	chr2:182644000-182647800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:182644200-182646800	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:182644400-182646600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:182644800-182646800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:182645000-182646800	Enhancers	Stomach Mucosa	stomach
16	chr2:182645200-182651800	Weak transcription	Thymus	Thymus
17	chr2:182645400-182646600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:182645400-182648600	Weak transcription	Osteobl	bone
19	chr2:182645400-182649200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:182645400-182649200	Weak transcription	HSMMtube	muscle
21	chr2:182645400-182649200	Weak transcription	NHDF-Ad	bronchial
22	chr2:182645400-182650600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:182645600-182646600	Enhancers	Fetal Kidney	kidney
24	chr2:182645600-182647200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:182645600-182647400	Weak transcription	NHLF	lung
26	chr2:182645600-182649000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:182645800-182646600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:182645800-182646600	Enhancers	Gastric	stomach
29	chr2:182645800-182646600	Enhancers	Pancreas	Pancrea
30	chr2:182645800-182648600	Weak transcription	NH-A	brain
31	chr2:182645800-182649000	Weak transcription	HSMM	muscle
32	chr2:182646000-182648200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:182646000-182648800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:182646000-182649200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:182646000-182651200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:182646000-182651800	Weak transcription	Fetal Thymus	thymus
37	chr2:182646200-182647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:182646200-182647400	Weak transcription	Dnd41	blood
39	chr2:182646200-182647600	Weak transcription	Placenta	Placenta
40	chr2:182646200-182647800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:182646200-182648600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:182646200-182648600	Weak transcription	HMEC	breast
43	chr2:182646200-182648600	Weak transcription	NHEK	skin
44	chr2:182646200-182649200	Weak transcription	Fetal Lung	lung
45	chr2:182646200-182651000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:182646200-182651200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:182646200-182651200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:182646400-182646600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr2:182646400-182646800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:182646400-182647400	Weak transcription	HUVEC	blood vessel

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