Variant report

Variant	rs4700321
Chromosome Location	chr5:58427266-58427267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10062340	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10062397	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1038080	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12654485	0.88[CEU][hapmap]
rs13176291	0.81[CHB][hapmap]
rs13176475	0.81[CHB][hapmap]
rs1551939	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16877156	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862563	0.88[MEX][hapmap]
rs2409628	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs33927508	0.88[CEU][hapmap]
rs35728243	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7707392	1.00[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7707566	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7730574	0.80[EUR][1000 genomes]
rs922435	0.88[EUR][1000 genomes]
rs997421	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr5:58423800-58429400	Weak transcription	Aorta	Aorta
2	chr5:58424000-58439800	Weak transcription	Small Intestine	intestine
3	chr5:58424000-58447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:58424200-58427400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:58424200-58429400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:58424200-58429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:58424200-58429400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:58424200-58429400	Weak transcription	Left Ventricle	heart
9	chr5:58424200-58429400	Weak transcription	Psoas Muscle	Psoas
10	chr5:58424200-58429400	Weak transcription	HMEC	breast
11	chr5:58424200-58432800	Weak transcription	Right Ventricle	heart
12	chr5:58424200-58446200	Weak transcription	Fetal Intestine Large	intestine
13	chr5:58424200-58446600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:58424400-58427600	Enhancers	Fetal Heart	heart
15	chr5:58424400-58430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:58424400-58431400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:58424600-58427400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:58424600-58429400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:58424600-58429600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:58424800-58427400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:58424800-58428000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:58424800-58428400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:58424800-58428600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:58424800-58429000	Weak transcription	NHDF-Ad	bronchial
25	chr5:58424800-58429400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:58424800-58429400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:58424800-58429400	Weak transcription	Right Atrium	heart
28	chr5:58424800-58429600	Weak transcription	HSMM	muscle
29	chr5:58425000-58427600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:58425000-58429600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:58425000-58429600	Weak transcription	Osteobl	bone
32	chr5:58425200-58427400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:58425200-58429400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:58425200-58429400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:58425400-58429400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:58425600-58429400	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:58425600-58429400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:58425800-58429800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:58426000-58427400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:58426000-58427800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:58426000-58427800	Genic enhancers	A549	lung
42	chr5:58426200-58427400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:58426600-58430200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:58426800-58429400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr5:58426800-58430200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:58426800-58431200	Enhancers	Primary T cells from cord blood	blood
47	chr5:58427200-58429200	Weak transcription	Hela-S3	cervix
48	chr5:58427200-58429400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:58427200-58429400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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