Variant report

Variant	rs2627808
Chromosome Location	chr4:143226768-143226769
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10016877	0.90[ASN][1000 genomes]
rs17015869	0.90[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.90[ASN][1000 genomes]
rs1872297	0.90[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.90[ASN][1000 genomes]
rs2636640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636675	0.87[ASN][1000 genomes]
rs28380511	0.90[ASN][1000 genomes]
rs3775686	0.90[ASN][1000 genomes]
rs3775687	0.90[ASN][1000 genomes]
rs3775689	0.90[ASN][1000 genomes]
rs3775690	0.91[ASN][1000 genomes]
rs3775692	0.84[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3775693	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs3822151	0.90[ASN][1000 genomes]
rs3822152	0.90[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.91[ASN][1000 genomes]
rs3822153	0.91[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143199400-143230800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:143200000-143240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:143204000-143230600	Weak transcription	Left Ventricle	heart
4	chr4:143204200-143229000	Weak transcription	NHEK	skin
5	chr4:143204600-143233600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:143206000-143233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:143209800-143229000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:143210800-143235400	Weak transcription	Right Ventricle	heart
9	chr4:143214200-143230600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:143215200-143235200	Weak transcription	Osteobl	bone
11	chr4:143215800-143235200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:143216200-143234600	Weak transcription	Thymus	Thymus
13	chr4:143216600-143233600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:143217600-143238600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:143217600-143260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:143217800-143227000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:143218200-143233400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:143218600-143229000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:143218800-143234600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:143219000-143229200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:143219200-143228600	Strong transcription	HMEC	breast
22	chr4:143219200-143233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:143219400-143232600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:143219400-143236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:143219600-143227800	Weak transcription	Primary T cells from cord blood	blood
26	chr4:143220600-143233000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:143221600-143230600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:143221600-143234800	Weak transcription	Pancreas	Pancrea
29	chr4:143221800-143233000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:143222600-143233800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr4:143223600-143227000	Active TSS	HSMMtube	muscle
32	chr4:143223600-143227200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:143223600-143228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:143223600-143239200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:143223800-143226800	Active TSS	Aorta	Aorta
36	chr4:143224400-143227000	Active TSS	Right Atrium	heart
37	chr4:143224400-143228600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:143224400-143234800	Strong transcription	Dnd41	blood
39	chr4:143224600-143227000	Active TSS	Fetal Muscle Leg	muscle
40	chr4:143224600-143230400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:143225000-143227600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:143225200-143226800	Active TSS	Psoas Muscle	Psoas
43	chr4:143225200-143235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:143225400-143226800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:143225400-143230600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:143225400-143237400	Weak transcription	Ovary	ovary
47	chr4:143225400-143240200	Weak transcription	Esophagus	oesophagus
48	chr4:143225800-143233200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr4:143225800-143234600	Weak transcription	NHDF-Ad	bronchial
50	chr4:143226400-143226800	Transcr. at gene 5' and 3'	HSMM	muscle

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