Variant report

Variant	rs6728689
Chromosome Location	chr2:231409760-231409761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6728423	0.83[EUR][1000 genomes]
rs6729378	0.87[EUR][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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875949	chr2:231407663-231434272	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:231401000-231430200	Weak transcription	Pancreas	Pancrea
3	chr2:231403200-231410200	Strong transcription	Primary B cells from cord blood	blood
4	chr2:231404000-231417200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:231404200-231410200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:231404400-231409800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:231404400-231410000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:231404600-231416400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:231404800-231410800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:231405000-231409800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:231405400-231409800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:231405400-231411600	Weak transcription	Placenta	Placenta
13	chr2:231405400-231411800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:231405600-231410200	Strong transcription	Primary hematopoietic stem cells	blood
15	chr2:231405800-231415000	Weak transcription	Gastric	stomach
16	chr2:231406400-231410200	Weak transcription	Thymus	Thymus
17	chr2:231406800-231410200	Weak transcription	Fetal Thymus	thymus
18	chr2:231406800-231411200	Weak transcription	Aorta	Aorta
19	chr2:231407000-231410000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:231407000-231417200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:231407200-231411000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:231407200-231417200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:231407600-231410600	Weak transcription	HSMMtube	muscle
24	chr2:231408000-231415000	Weak transcription	GM12878-XiMat	blood
25	chr2:231408400-231409800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:231408400-231410000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:231408400-231411000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:231408600-231410200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:231408600-231410400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:231408600-231410400	Weak transcription	Liver	Liver
31	chr2:231408600-231411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:231408600-231414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:231408800-231410400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:231408800-231412200	Weak transcription	Left Ventricle	heart
35	chr2:231408800-231413400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:231408800-231414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:231408800-231417000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:231408800-231417200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:231408800-231417200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:231409000-231411600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:231409000-231411800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:231409000-231413400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:231409200-231411000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:231409400-231409800	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr2:231409400-231409800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:231409400-231417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:231409600-231411400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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