Variant report

Variant	rs6722460
Chromosome Location	chr2:149030094-149030095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10153599	0.89[AMR][1000 genomes]
rs10168750	1.00[AMR][1000 genomes]
rs10168759	1.00[AMR][1000 genomes]
rs10177233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10188956	1.00[AMR][1000 genomes]
rs10208949	1.00[AMR][1000 genomes]
rs10928387	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10928392	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11692197	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12472437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12691783	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1377455	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1470862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1542323	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1869342	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1992989	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2034672	1.00[AMR][1000 genomes]
rs2123617	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2167881	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2167882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2219066	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2382212	0.83[AFR][1000 genomes]
rs2656318	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2890919	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4972339	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972344	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972350	1.00[AMR][1000 genomes]
rs4972351	1.00[AMR][1000 genomes]
rs4972352	1.00[AMR][1000 genomes]
rs4972353	1.00[AMR][1000 genomes]
rs55721902	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430307	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709521	1.00[AMR][1000 genomes]
rs6725093	1.00[AMR][1000 genomes]
rs6726373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7424220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7569947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7572485	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7578733	0.83[AFR][1000 genomes]
rs7588000	0.89[AMR][1000 genomes]
rs7602337	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	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
2	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
3	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
4	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:38 , 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	chr2:149012600-149043400	Weak transcription	Gastric	stomach
5	chr2:149012800-149030200	Weak transcription	Fetal Kidney	kidney
6	chr2:149012800-149030800	Weak transcription	Adipose Nuclei	Adipose
7	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:149014000-149031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:149015800-149030200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:149016800-149030800	Weak transcription	Ovary	ovary
11	chr2:149017000-149030400	Weak transcription	NHLF	lung
12	chr2:149017000-149030800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:149017000-149031200	Weak transcription	HSMM	muscle
14	chr2:149017200-149038000	Weak transcription	Primary B cells from cord blood	blood
15	chr2:149017400-149033600	Weak transcription	Pancreas	Pancrea
16	chr2:149017400-149037600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:149017400-149050600	Weak transcription	Thymus	Thymus
18	chr2:149017400-149062800	Weak transcription	Fetal Lung	lung
19	chr2:149017400-149070600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:149017600-149031000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:149017600-149043400	Weak transcription	Fetal Stomach	stomach
22	chr2:149017600-149049000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:149017600-149060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:149017800-149030800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:149018000-149031000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:149023600-149039200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:149025800-149044600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:149026000-149031000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:149026000-149031000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:149026000-149045000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:149026000-149070400	Weak transcription	Fetal Intestine Small	intestine
32	chr2:149027000-149039200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:149027400-149032600	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:149027600-149038000	Weak transcription	GM12878-XiMat	blood
35	chr2:149029400-149055400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:149029600-149036600	Weak transcription	Esophagus	oesophagus
37	chr2:149030000-149030800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:149030000-149031400	Enhancers	Fetal Intestine Large	intestine

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