Variant report

Variant	rs73974897
Chromosome Location	chr2:182325013-182325014
allele	C/G
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:23)

rs_ID	r²[population]
rs10153755	1.00[AMR][1000 genomes]
rs10180793	1.00[AMR][1000 genomes]
rs10206693	1.00[AMR][1000 genomes]
rs1026401	1.00[AMR][1000 genomes]
rs1037623	1.00[AMR][1000 genomes]
rs13415157	1.00[AMR][1000 genomes]
rs13423639	1.00[AMR][1000 genomes]
rs13424840	1.00[AMR][1000 genomes]
rs1348124	1.00[AMR][1000 genomes]
rs1375489	1.00[AMR][1000 genomes]
rs1449258	1.00[AMR][1000 genomes]
rs1466110	1.00[AMR][1000 genomes]
rs155117	1.00[AMR][1000 genomes]
rs155118	1.00[AMR][1000 genomes]
rs2198730	1.00[AMR][1000 genomes]
rs2368214	1.00[AMR][1000 genomes]
rs3863936	1.00[AMR][1000 genomes]
rs3910673	1.00[AMR][1000 genomes]
rs4404231	1.00[AMR][1000 genomes]
rs57055225	1.00[AMR][1000 genomes]
rs6706626	1.00[AMR][1000 genomes]
rs6730994	1.00[AMR][1000 genomes]
rs9653241	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:182321200-182327000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:182321400-182326600	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr2:182321600-182325600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr2:182321600-182325800	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr2:182321600-182325800	Active TSS	HSMMtube	muscle
6	chr2:182321600-182326200	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr2:182321600-182326200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:182321600-182327200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr2:182321600-182327400	Active TSS	Thymus	Thymus
10	chr2:182321800-182327000	Active TSS	GM12878-XiMat	blood
11	chr2:182321800-182327200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:182322000-182325400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:182322000-182325600	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr2:182322000-182326000	Active TSS	Fetal Thymus	thymus
15	chr2:182322000-182327000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr2:182322200-182325200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:182322200-182330800	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr2:182322400-182325400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:182323200-182325800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:182323200-182326200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr2:182323400-182326200	Active TSS	Duodenum Mucosa	Duodenum
22	chr2:182323400-182330400	Weak transcription	HMEC	breast
23	chr2:182323400-182332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:182323600-182325800	Weak transcription	Colonic Mucosa	Colon
25	chr2:182323600-182329600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:182324200-182325400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:182324200-182326600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr2:182324400-182326000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:182324400-182326600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:182324400-182410400	Weak transcription	NHLF	lung
31	chr2:182324600-182325600	Active TSS	Primary B cells from peripheral blood	blood
32	chr2:182324600-182325800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:182324600-182325800	Weak transcription	Spleen	Spleen
34	chr2:182324600-182326600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr2:182324600-182327200	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr2:182324600-182328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:182324600-182330600	Weak transcription	NH-A	brain
38	chr2:182324600-182336400	Weak transcription	Small Intestine	intestine
39	chr2:182324600-182337600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:182324600-182340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:182324600-182360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:182324800-182325200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:182324800-182325600	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr2:182324800-182327400	Active TSS	Primary T cells fromperipheralblood	blood
45	chr2:182324800-182330000	Weak transcription	NHDF-Ad	bronchial
46	chr2:182324800-182330200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:182324800-182330400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:182325000-182325200	Active TSS	Primary T cells from cord blood	blood
49	chr2:182325000-182325600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr2:182325000-182326200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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