Variant report

Variant	rs2382212
Chromosome Location	chr2:149017704-149017705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10177233	0.83[AFR][1000 genomes]
rs10928387	0.83[AFR][1000 genomes]
rs12463445	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12464464	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12466152	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12474357	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478460	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1470862	0.88[AFR][1000 genomes]
rs1992989	0.85[AFR][1000 genomes]
rs2167881	0.89[AFR][1000 genomes]
rs2167882	0.89[AFR][1000 genomes]
rs4972339	0.85[AFR][1000 genomes]
rs4972340	0.90[AFR][1000 genomes]
rs59059734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59745578	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6722460	0.83[AFR][1000 genomes]
rs6726373	0.83[AFR][1000 genomes]
rs73965305	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7424220	0.89[AFR][1000 genomes]
rs7569947	0.85[AFR][1000 genomes]
rs7573171	0.89[AFR][1000 genomes]
rs7578733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:148995000-149019800	Weak transcription	Aorta	Aorta
2	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
3	chr2:148996400-149030400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:149011600-149030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:149011800-149021200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:149012000-149019000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:149012600-149043400	Weak transcription	Gastric	stomach
8	chr2:149012800-149030000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:149012800-149030200	Weak transcription	Fetal Kidney	kidney
10	chr2:149012800-149030800	Weak transcription	Adipose Nuclei	Adipose
11	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:149014000-149025800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:149014000-149031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:149014400-149018000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:149015000-149017800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:149015400-149018000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:149015400-149021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:149015400-149023000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:149015800-149018200	Weak transcription	HSMMtube	muscle
20	chr2:149015800-149030200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:149016800-149030800	Weak transcription	Ovary	ovary
22	chr2:149017000-149018000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:149017000-149028800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:149017000-149030400	Weak transcription	NHLF	lung
25	chr2:149017000-149030800	Weak transcription	Primary T cells from cord blood	blood
26	chr2:149017000-149031200	Weak transcription	HSMM	muscle
27	chr2:149017200-149018600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:149017200-149038000	Weak transcription	Primary B cells from cord blood	blood
29	chr2:149017400-149017800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:149017400-149021000	Weak transcription	Brain Germinal Matrix	brain
31	chr2:149017400-149025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:149017400-149025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:149017400-149030000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:149017400-149033600	Weak transcription	Pancreas	Pancrea
35	chr2:149017400-149037600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:149017400-149050600	Weak transcription	Thymus	Thymus
37	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
38	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:149017600-149017800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:149017600-149018000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:149017600-149018000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:149017600-149018400	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:149017600-149020000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:149017600-149020800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:149017600-149025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:149017600-149025800	Weak transcription	Fetal Intestine Small	intestine
47	chr2:149017600-149031000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:149017600-149043400	Weak transcription	Fetal Stomach	stomach
49	chr2:149017600-149049000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links