Variant report

Variant	rs4972276
Chromosome Location	chr2:149020177-149020178
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10206569	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10210377	0.98[ASN][1000 genomes]
rs10432369	0.81[ASN][1000 genomes]
rs10928388	0.95[ASN][1000 genomes]
rs10928389	0.97[ASN][1000 genomes]
rs10928390	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1120671	1.00[ASN][1000 genomes]
rs11676308	0.84[ASN][1000 genomes]
rs11685302	0.95[ASN][1000 genomes]
rs11692246	0.84[ASN][1000 genomes]
rs12691780	0.95[ASN][1000 genomes]
rs12691781	0.95[ASN][1000 genomes]
rs13001946	0.81[ASN][1000 genomes]
rs13022005	0.81[ASN][1000 genomes]
rs13027785	0.97[ASN][1000 genomes]
rs13032996	0.86[ASN][1000 genomes]
rs13392141	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13425594	0.98[ASN][1000 genomes]
rs1449960	0.91[ASN][1000 genomes]
rs1453318	0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs17274896	0.84[ASN][1000 genomes]
rs2044760	0.91[ASN][1000 genomes]
rs2044761	0.91[ASN][1000 genomes]
rs2084954	0.84[ASN][1000 genomes]
rs2167127	0.95[ASN][1000 genomes]
rs2839755	0.81[ASN][1000 genomes]
rs2890917	1.00[ASN][1000 genomes]
rs35042809	0.86[ASN][1000 genomes]
rs35749985	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972338	0.84[ASN][1000 genomes]
rs4972341	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972343	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6430305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6721794	0.94[ASN][1000 genomes]
rs6746932	0.84[ASN][1000 genomes]
rs7565035	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7570104	0.95[ASN][1000 genomes]
rs7572948	0.81[ASN][1000 genomes]
rs961207	0.98[ASN][1000 genomes]
rs991554	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
2	chr2:148996400-149030400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:149011600-149030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:149011800-149021200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:149012600-149043400	Weak transcription	Gastric	stomach
6	chr2:149012800-149030000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:149012800-149030200	Weak transcription	Fetal Kidney	kidney
8	chr2:149012800-149030800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:149014000-149025800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:149014000-149031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:149015400-149021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:149015400-149023000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:149015800-149030200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:149016800-149030800	Weak transcription	Ovary	ovary
16	chr2:149017000-149028800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:149017000-149030400	Weak transcription	NHLF	lung
18	chr2:149017000-149030800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:149017000-149031200	Weak transcription	HSMM	muscle
20	chr2:149017200-149038000	Weak transcription	Primary B cells from cord blood	blood
21	chr2:149017400-149021000	Weak transcription	Brain Germinal Matrix	brain
22	chr2:149017400-149025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:149017400-149025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:149017400-149030000	Weak transcription	Fetal Intestine Large	intestine
25	chr2:149017400-149033600	Weak transcription	Pancreas	Pancrea
26	chr2:149017400-149037600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:149017400-149050600	Weak transcription	Thymus	Thymus
28	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
29	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:149017600-149020800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:149017600-149025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:149017600-149025800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:149017600-149031000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:149017600-149043400	Weak transcription	Fetal Stomach	stomach
35	chr2:149017600-149049000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:149017800-149022000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:149017800-149030800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:149018000-149031000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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