Variant report

Variant	rs17050428
Chromosome Location	chr4:119648947-119648948
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119642303..119644836-chr4:119647066..119649868,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4572856	1.00[EUR][1000 genomes]
rs59514079	1.00[EUR][1000 genomes]
rs59912399	1.00[EUR][1000 genomes]
rs72905487	1.00[EUR][1000 genomes]
rs72905494	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
4	chr4:119620000-119660200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
6	chr4:119628000-119659800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:119628400-119657600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:119630400-119674200	Weak transcription	A549	lung
9	chr4:119631600-119650800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:119631800-119649800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:119633200-119662800	Weak transcription	Brain Anterior Caudate	brain
12	chr4:119633400-119667600	Weak transcription	Brain Germinal Matrix	brain
13	chr4:119634400-119660000	Weak transcription	Brain Angular Gyrus	brain
14	chr4:119638400-119650200	Strong transcription	Osteobl	bone
15	chr4:119638400-119650600	Strong transcription	NH-A	brain
16	chr4:119638400-119650800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:119638600-119650600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:119639600-119651600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:119640600-119662200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr4:119641200-119652600	Strong transcription	HSMMtube	muscle
22	chr4:119641200-119659600	Strong transcription	Fetal Intestine Large	intestine
23	chr4:119641400-119649200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:119641400-119649800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr4:119641400-119650600	Strong transcription	NHDF-Ad	bronchial
26	chr4:119641600-119649000	Weak transcription	Fetal Brain Male	brain
27	chr4:119641600-119650800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:119641600-119659400	Strong transcription	Liver	Liver
29	chr4:119641600-119679800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr4:119641800-119650600	Strong transcription	HepG2	liver
31	chr4:119642000-119649800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:119642000-119650600	Strong transcription	HUVEC	blood vessel
33	chr4:119642000-119653200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:119642000-119653400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:119642000-119654400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr4:119642000-119661200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:119642000-119662000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:119642000-119662000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr4:119642000-119666800	Strong transcription	Placenta	Placenta
40	chr4:119642200-119650400	Strong transcription	NHLF	lung
41	chr4:119642200-119668200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr4:119642400-119656400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr4:119642400-119662000	Strong transcription	Adipose Nuclei	Adipose
44	chr4:119642400-119662000	Strong transcription	Fetal Lung	lung
45	chr4:119642400-119668400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:119643000-119658400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:119643000-119662000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:119643200-119650200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:119643200-119650400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:119643200-119653600	Strong transcription	HMEC	breast

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