Variant report

Variant	rs12612058
Chromosome Location	chr2:182649911-182649912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182648713..182650748-chr2:182748851..182753671,4	MCF-7	breast:
2	chr2:182647541..182657734-chr2:182753295..182760748,23	MCF-7	breast:
3	chr2:182642988..182645048-chr2:182649419..182652084,2	MCF-7	breast:
4	chr2:182649357..182651111-chr2:182651745..182654044,2	MCF-7	breast:
5	chr2:182649909..182651915-chr2:182653150..182656385,3	MCF-7	breast:
6	chr2:182646086..182659083-chr2:182754079..182762654,36	MCF-7	breast:
7	chr2:182607060..182610718-chr2:182648609..182651704,3	MCF-7	breast:
8	chr2:182642047..182644183-chr2:182648360..182651289,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497586	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11891680	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11898530	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11902326	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12618902	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12620901	0.93[ASN][1000 genomes]
rs12622894	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13387144	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1427333	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1528028	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16867496	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16867503	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16867506	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1991374	0.82[ASN][1000 genomes]
rs4597474	0.82[ASN][1000 genomes]
rs57000426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57281910	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57971040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59159077	0.87[ASN][1000 genomes]
rs59956987	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60200067	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61246630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6720578	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7567399	0.96[ASN][1000 genomes]
rs7567560	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7581484	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7584725	0.94[EUR][1000 genomes];0.96[ASN][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182641800-182650000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:182642200-182657200	Enhancers	Hela-S3	cervix
3	chr2:182645200-182651800	Weak transcription	Thymus	Thymus
4	chr2:182645400-182650600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:182646000-182651200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:182646000-182651800	Weak transcription	Fetal Thymus	thymus
7	chr2:182646200-182651000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:182646200-182651200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:182646200-182651200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:182646400-182650200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:182646400-182651600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:182646400-182651600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:182646600-182651200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:182646600-182651200	Weak transcription	Pancreas	Pancrea
15	chr2:182646600-182653400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:182646600-182654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:182647200-182652600	Enhancers	HepG2	liver
18	chr2:182647200-182652800	Enhancers	Stomach Mucosa	stomach
19	chr2:182647400-182653000	Enhancers	Fetal Intestine Small	intestine
20	chr2:182647600-182650600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:182647800-182650000	Enhancers	Fetal Kidney	kidney
22	chr2:182647800-182650200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:182648000-182657200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:182648200-182650200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:182648200-182650800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:182648200-182651200	Weak transcription	Placenta	Placenta
27	chr2:182648200-182651800	Weak transcription	Dnd41	blood
28	chr2:182648400-182650000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:182648600-182651000	Enhancers	NH-A	brain
30	chr2:182648600-182651200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr2:182648600-182651400	Enhancers	Osteobl	bone
32	chr2:182648600-182657200	Enhancers	HMEC	breast
33	chr2:182648800-182651000	Weak transcription	Small Intestine	intestine
34	chr2:182648800-182654600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:182648800-182657000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:182649000-182651000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:182649000-182651400	Enhancers	HSMM	muscle
38	chr2:182649200-182650000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:182649200-182650000	Flanking Active TSS	NHEK	skin
40	chr2:182649200-182650800	Enhancers	HUVEC	blood vessel
41	chr2:182649200-182651000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:182649200-182651000	Enhancers	HSMMtube	muscle
43	chr2:182649200-182651400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:182649200-182651400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:182649200-182651400	Enhancers	NHDF-Ad	bronchial
46	chr2:182649200-182656200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:182649400-182650000	Active TSS	Duodenum Mucosa	Duodenum
48	chr2:182649400-182650000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr2:182649400-182650000	Weak transcription	A549	lung
50	chr2:182649400-182651600	Enhancers	NHLF	lung

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