Variant report

Variant	rs28620217
Chromosome Location	chr4:79510140-79510141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79509559..79512008-chr4:79512168..79514182,2	K562	blood:
2	chr4:79505629..79508109-chr4:79509982..79512936,2	K562	blood:
3	chr4:79508043..79510860-chr4:79533218..79535822,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11939119	1.00[AFR][1000 genomes]
rs11946502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11946509	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003372	0.94[AFR][1000 genomes]
rs28372309	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28404993	0.81[AFR][1000 genomes]
rs28552884	1.00[AFR][1000 genomes]
rs5946	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6811289	1.00[AFR][1000 genomes]
rs6813286	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
3	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:79488400-79523600	Weak transcription	Esophagus	oesophagus
5	chr4:79488400-79527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:79488600-79512200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:79489800-79513600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:79490000-79523400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:79490600-79521000	Weak transcription	Fetal Heart	heart
10	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:79491000-79510200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:79491000-79512200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:79491000-79529600	Weak transcription	Aorta	Aorta
14	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:79491600-79512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:79491800-79542600	Weak transcription	NH-A	brain
18	chr4:79492000-79531600	Strong transcription	HMEC	breast
19	chr4:79499600-79510800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:79500000-79522200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:79500200-79510600	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr4:79501400-79516000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:79502200-79510800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
25	chr4:79502400-79525800	Weak transcription	Psoas Muscle	Psoas
26	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:79503200-79521800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:79503800-79512000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:79505800-79517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:79506200-79512000	Strong transcription	NHEK	skin
31	chr4:79506400-79517200	Weak transcription	Pancreas	Pancrea
32	chr4:79506400-79517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:79506600-79510200	Weak transcription	Primary B cells from cord blood	blood
34	chr4:79506800-79523800	Weak transcription	Placenta	Placenta
35	chr4:79507000-79510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:79507000-79511200	Strong transcription	Fetal Intestine Large	intestine
37	chr4:79507000-79511600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:79507000-79512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:79507000-79512600	Weak transcription	NHLF	lung
40	chr4:79507000-79513000	Weak transcription	Stomach Mucosa	stomach
41	chr4:79507000-79513400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:79507000-79513400	Weak transcription	K562	blood
43	chr4:79507600-79521000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:79508200-79510800	Strong transcription	A549	lung
45	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:79508600-79510200	Strong transcription	Fetal Intestine Small	intestine
47	chr4:79508600-79523600	Weak transcription	Adipose Nuclei	Adipose
48	chr4:79508800-79511400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:79508800-79525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:79508800-79527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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