Variant report

Variant	rs17082954
Chromosome Location	chr4:54395550-54395551
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54394395..54396250-chr4:54398915..54401009,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17082975	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28564139	1.00[AMR][1000 genomes]
rs28702938	1.00[AMR][1000 genomes]
rs62325223	1.00[AMR][1000 genomes]
rs73153344	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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:54374400-54399000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:54374400-54421000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:54375000-54398800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:54377600-54412200	Weak transcription	Aorta	Aorta
6	chr4:54384600-54397400	Weak transcription	HSMMtube	muscle
7	chr4:54384600-54424000	Weak transcription	Esophagus	oesophagus
8	chr4:54385200-54408600	Weak transcription	Right Atrium	heart
9	chr4:54385400-54403800	Weak transcription	Left Ventricle	heart
10	chr4:54386400-54397800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:54387600-54395600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:54387600-54395800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:54389600-54404000	Weak transcription	Pancreas	Pancrea
14	chr4:54390400-54430400	Weak transcription	Stomach Mucosa	stomach
15	chr4:54392200-54397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:54392600-54397000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:54393000-54399000	Weak transcription	Fetal Brain Female	brain
18	chr4:54394000-54396600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:54394000-54397600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:54394000-54397800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:54394000-54398200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:54394000-54398200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:54394000-54398400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:54394000-54412400	Weak transcription	Gastric	stomach
25	chr4:54394200-54395600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:54394200-54397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:54394400-54395600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:54394400-54395600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:54394800-54396000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:54395000-54395800	Enhancers	Placenta	Placenta
31	chr4:54395400-54396000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:54395400-54396000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:54395400-54396000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:54395400-54396000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:54395400-54396000	Enhancers	Fetal Lung	lung

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