Variant report

Variant	rs17050183
Chromosome Location	chr4:119920914-119920915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119910366..119912826-chr4:119918916..119921201,2	K562	blood:
2	chr4:119919801..119922456-chr4:120217871..120220047,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9307466	1.00[ASW][hapmap];0.88[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17050183	TPM2	trans	lymphoblastoid	seeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119908000-119921400	Weak transcription	Small Intestine	intestine
2	chr4:119910400-119931000	Weak transcription	Right Atrium	heart
3	chr4:119913400-119923000	Enhancers	Colon Smooth Muscle	Colon
4	chr4:119914200-119921000	Weak transcription	Right Ventricle	heart
5	chr4:119915600-119921000	Weak transcription	Ovary	ovary
6	chr4:119915800-119921400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:119917600-119931000	Weak transcription	Aorta	Aorta
8	chr4:119917600-119932200	Weak transcription	Left Ventricle	heart
9	chr4:119918200-119922800	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:119918600-119921000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:119918800-119921200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:119919000-119921200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:119919000-119921200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:119919200-119921000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:119919200-119921200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:119919200-119921200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:119919200-119921400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:119919400-119921000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:119919400-119921200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:119919400-119921200	Weak transcription	HSMMtube	muscle
21	chr4:119919400-119921200	Weak transcription	NHDF-Ad	bronchial
22	chr4:119919400-119921600	Weak transcription	NHLF	lung
23	chr4:119919400-119925000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:119919600-119921400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:119919600-119921400	Weak transcription	Osteobl	bone
26	chr4:119919800-119921200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:119920200-119922400	Enhancers	Psoas Muscle	Psoas
28	chr4:119920400-119921200	Weak transcription	Fetal Stomach	stomach
29	chr4:119920600-119921400	Enhancers	Stomach Smooth Muscle	stomach
30	chr4:119920800-119921200	Enhancers	Fetal Heart	heart
31	chr4:119920800-119921600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr4:119920800-119921800	Enhancers	H9 Cell Line	embryonic stem cell

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