Variant report

Variant	rs2404716
Chromosome Location	chr1:56979076-56979077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56970988..56973563-chr1:56974719..56979116,4	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10493211	0.85[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs11206838	0.81[CHD][hapmap];0.81[YRI][hapmap]
rs11576602	0.81[CHD][hapmap]
rs12134109	0.81[CHD][hapmap];0.81[YRI][hapmap]
rs12406517	0.81[CHD][hapmap]
rs56152906	0.87[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2404716	CYB5RL	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56964800-56979200	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56966000-56980600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:56969000-56979200	Genic enhancers	Lung	lung
5	chr1:56971000-56979200	Genic enhancers	Left Ventricle	heart
6	chr1:56971400-56986200	Genic enhancers	Placenta	Placenta
7	chr1:56971600-56979200	Genic enhancers	Adipose Nuclei	Adipose
8	chr1:56972400-56990800	Strong transcription	HSMM	muscle
9	chr1:56972600-56981800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:56974600-56982400	Strong transcription	Osteobl	bone
11	chr1:56975000-56980000	Weak transcription	Hela-S3	cervix
12	chr1:56975000-56981800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:56975000-56981800	Weak transcription	NHEK	skin
14	chr1:56975000-56982000	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr1:56975800-56979200	Strong transcription	Aorta	Aorta
16	chr1:56976000-56982600	Genic enhancers	Liver	Liver
17	chr1:56976200-56982600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:56976400-56979200	Genic enhancers	HepG2	liver
19	chr1:56976400-56981400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:56976400-56982200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
22	chr1:56976800-56980400	Weak transcription	Stomach Mucosa	stomach
23	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
24	chr1:56977200-56981400	Weak transcription	Small Intestine	intestine
25	chr1:56977200-56982200	Weak transcription	Fetal Heart	heart
26	chr1:56977200-56982400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:56977200-56987200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:56977200-56990600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:56977400-56980200	Strong transcription	Fetal Intestine Large	intestine
30	chr1:56977400-56980600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:56977400-56980600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:56977400-56981600	Weak transcription	Primary B cells from cord blood	blood
33	chr1:56977400-56981800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:56977400-56982000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:56977400-56982400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:56977600-56979200	Strong transcription	Fetal Kidney	kidney
37	chr1:56977600-56980400	Weak transcription	K562	blood
38	chr1:56977600-56981200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:56977600-56983600	Strong transcription	NHLF	lung
40	chr1:56977800-56979200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:56977800-56979200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:56977800-56980200	Strong transcription	Fetal Lung	lung
43	chr1:56977800-56980400	Weak transcription	Psoas Muscle	Psoas
44	chr1:56977800-56980600	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:56977800-56980600	Weak transcription	HSMMtube	muscle
46	chr1:56977800-56981000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:56977800-56981200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:56977800-56981400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:56977800-56981400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:56977800-56982400	Weak transcription	NH-A	brain

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