Variant report

Variant	rs17050139
Chromosome Location	chr4:119961429-119961430
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119960403..119963318-chr4:120145478..120148032,2	MCF-7	breast:
2	chr4:119959493..119961509-chr4:120134410..120137217,2	MCF-7	breast:
3	chr4:119960702..119961581-chr4:120133775..120134380,2	MCF-7	breast:
4	chr4:119957521..119966347-chr4:120131974..120135434,12	MCF-7	breast:
5	chr4:119902691..119903668-chr4:119960868..119961628,4	MCF-7	breast:
6	chr4:119961410..119962210-chr4:120207352..120208217,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17050127	1.00[EUR][1000 genomes]
rs61538423	0.90[EUR][1000 genomes]
rs6813762	0.83[AMR][1000 genomes]
rs6854148	1.00[AMR][1000 genomes]
rs73842549	0.89[EUR][1000 genomes]

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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119948200-119961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:119948200-119961800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:119952600-119961800	Weak transcription	Brain Angular Gyrus	brain
4	chr4:119953200-119961800	Weak transcription	Esophagus	oesophagus
5	chr4:119953600-119963000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:119954400-119961800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:119956000-119961800	Weak transcription	Right Ventricle	heart
8	chr4:119956200-119961800	Weak transcription	Fetal Stomach	stomach
9	chr4:119956200-119967400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:119956200-119973200	Weak transcription	Psoas Muscle	Psoas
11	chr4:119956600-119962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:119956600-119963000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:119956600-119964000	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:119956800-119965600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:119957200-119961800	Weak transcription	Fetal Kidney	kidney
16	chr4:119957200-119961800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:119957200-119961800	Enhancers	NHDF-Ad	bronchial
18	chr4:119957200-119964000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:119957400-119961800	Weak transcription	Fetal Heart	heart
20	chr4:119957400-119961800	Weak transcription	HMEC	breast
21	chr4:119957800-119961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:119957800-119961800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:119957800-119961800	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:119957800-119962800	Weak transcription	Hela-S3	cervix
25	chr4:119958800-119970400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:119959000-119961800	Enhancers	HSMM	muscle
27	chr4:119959000-119963200	Enhancers	Colon Smooth Muscle	Colon
28	chr4:119959200-119961800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:119959200-119961800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:119959200-119962600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:119959200-119963200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:119959200-119964200	Enhancers	NHLF	lung
33	chr4:119959400-119961800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:119959400-119962800	Enhancers	HSMMtube	muscle
35	chr4:119959400-119963200	Weak transcription	Stomach Mucosa	stomach
36	chr4:119959400-119963800	Enhancers	Osteobl	bone
37	chr4:119959800-119961800	Enhancers	Brain Anterior Caudate	brain
38	chr4:119959800-119963400	Enhancers	NHEK	skin
39	chr4:119960000-119961800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:119960000-119962000	Weak transcription	GM12878-XiMat	blood
41	chr4:119960000-119963000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:119960000-119964200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:119960200-119961800	Weak transcription	Adipose Nuclei	Adipose
44	chr4:119960200-119963000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:119960200-119963000	Weak transcription	Aorta	Aorta
46	chr4:119960200-119964800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:119960400-119964200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:119960400-119965000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:119960400-119965400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:119960600-119963000	Weak transcription	Primary monocytes fromperipheralblood	blood

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