Variant report

Variant	rs2227796
Chromosome Location	chr5:76027203-76027204
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	chr5:76025270..76027765-chr5:76030412..76033336,2	K562	blood:
2	chr5:76023449..76027739-chr5:76027820..76030075,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2227748	1.00[AMR][1000 genomes]
rs2227782	1.00[AMR][1000 genomes]
rs58133545	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73125568	1.00[AMR][1000 genomes]
rs73125594	1.00[AMR][1000 genomes]
rs73127570	1.00[AMR][1000 genomes]
rs73129610	1.00[AMR][1000 genomes]
rs73129621	1.00[AMR][1000 genomes]
rs73129622	1.00[AMR][1000 genomes]
rs73129664	1.00[AMR][1000 genomes]
rs73131635	1.00[AMR][1000 genomes]
rs73131647	1.00[AMR][1000 genomes]
rs7713797	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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76013000-76028400	Weak transcription	Aorta	Aorta
2	chr5:76013000-76032000	Weak transcription	HSMM	muscle
3	chr5:76013000-76033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:76013800-76028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:76013800-76030800	Weak transcription	Ovary	ovary
6	chr5:76014000-76028400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:76017000-76028400	Weak transcription	Spleen	Spleen
8	chr5:76018400-76034400	Weak transcription	Left Ventricle	heart
9	chr5:76021000-76030400	Strong transcription	HUVEC	blood vessel
10	chr5:76021200-76034200	Weak transcription	HepG2	liver
11	chr5:76022000-76030600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:76023000-76030400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:76025200-76030600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:76025400-76030600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:76025600-76028400	Weak transcription	Fetal Kidney	kidney
16	chr5:76025800-76028200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:76026200-76027800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:76026200-76028200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:76026200-76028200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:76026200-76028600	Weak transcription	HMEC	breast
21	chr5:76026200-76030600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:76026200-76030600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:76026200-76030800	Weak transcription	Fetal Brain Male	brain
24	chr5:76026200-76030800	Strong transcription	NHLF	lung
25	chr5:76026200-76031800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:76026200-76033200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:76026200-76034600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:76026400-76028200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:76026400-76028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:76026400-76028200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:76026400-76028400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:76026400-76028400	Weak transcription	Fetal Intestine Large	intestine
33	chr5:76026400-76031800	Weak transcription	Fetal Heart	heart
34	chr5:76026400-76031800	Weak transcription	NHEK	skin
35	chr5:76026400-76034200	Weak transcription	Small Intestine	intestine
36	chr5:76026400-76042800	Weak transcription	Right Atrium	heart
37	chr5:76026600-76027800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:76026600-76028000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:76026600-76028000	Weak transcription	NH-A	brain
40	chr5:76026600-76028200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:76026600-76028200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:76026600-76028200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr5:76026600-76028400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:76026600-76028400	Weak transcription	Brain Germinal Matrix	brain
45	chr5:76026600-76028600	Weak transcription	K562	blood
46	chr5:76026600-76028800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:76026600-76030200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:76026600-76030600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:76026600-76031200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:76026800-76028200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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