Variant report

Variant	rs17050145
Chromosome Location	chr4:119956281-119956282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119951515..119953650-chr4:119954858..119957423,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12507195	1.00[MEX][hapmap]
rs17050195	1.00[MEX][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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119941800-119961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:119946800-119957000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:119947200-119959800	Weak transcription	Brain Anterior Caudate	brain
4	chr4:119948200-119961000	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:119948200-119961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:119948200-119961800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:119949200-119957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:119949200-119961000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:119949200-119961000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:119949600-119959200	Weak transcription	Right Atrium	heart
11	chr4:119949800-119959800	Weak transcription	A549	lung
12	chr4:119951000-119956600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
13	chr4:119952200-119961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:119952400-119956400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:119952600-119956400	Weak transcription	Fetal Kidney	kidney
16	chr4:119952600-119961800	Weak transcription	Brain Angular Gyrus	brain
17	chr4:119953200-119957000	Weak transcription	Adipose Nuclei	Adipose
18	chr4:119953200-119957000	Weak transcription	Ovary	ovary
19	chr4:119953200-119961000	Weak transcription	Brain Substantia Nigra	brain
20	chr4:119953200-119961800	Weak transcription	Esophagus	oesophagus
21	chr4:119953600-119963000	Weak transcription	Fetal Intestine Large	intestine
22	chr4:119954200-119958200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:119954200-119959000	Genic enhancers	HSMM	muscle
24	chr4:119954400-119956400	Enhancers	Osteobl	bone
25	chr4:119954400-119957400	Enhancers	Fetal Heart	heart
26	chr4:119954400-119961800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:119954800-119957600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:119955000-119956800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:119955000-119956800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:119955000-119957200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
31	chr4:119955200-119957200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr4:119955200-119957800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:119955400-119956400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:119955400-119956600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:119955400-119956600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:119955400-119957800	Enhancers	NHLF	lung
37	chr4:119955400-119958000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:119955600-119956400	Enhancers	NH-A	brain
39	chr4:119955600-119956600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:119955600-119957800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:119955600-119958400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:119955800-119956600	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr4:119955800-119958800	Weak transcription	GM12878-XiMat	blood
44	chr4:119955800-119959600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:119955800-119961000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:119956000-119956800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:119956000-119957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:119956000-119957000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:119956000-119957000	Weak transcription	HMEC	breast
50	chr4:119956000-119957000	Genic enhancers	HSMMtube	muscle

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