Variant report

Variant	rs57189942
Chromosome Location	chr4:119810788-119810789
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	chr4:119692020..119693847-chr4:119810321..119812846,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs17328771	1.00[AMR][1000 genomes]
rs59546216	1.00[AMR][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	nsv289598	chr4:119803765-119811852	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119809200-119813800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:119809400-119812600	Active TSS	Brain Cingulate Gyrus	brain
3	chr4:119809400-119813800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:119809400-119813800	Active TSS	Fetal Stomach	stomach
5	chr4:119809600-119810800	Active TSS	Brain Substantia Nigra	brain
6	chr4:119809600-119810800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr4:119809600-119810800	Bivalent/Poised TSS	Thymus	Thymus
8	chr4:119809600-119811000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
9	chr4:119809600-119811200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
10	chr4:119809600-119811400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:119809600-119812200	Active TSS	Psoas Muscle	Psoas
12	chr4:119809600-119812400	Active TSS	Brain Anterior Caudate	brain
13	chr4:119809600-119812400	Active TSS	Brain Hippocampus Middle	brain
14	chr4:119809600-119812800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:119809600-119813000	Active TSS	Brain Angular Gyrus	brain
16	chr4:119809600-119813000	Active TSS	Right Ventricle	heart
17	chr4:119809600-119813000	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr4:119809600-119813400	Active TSS	Colon Smooth Muscle	Colon
19	chr4:119809600-119813800	Active TSS	Rectal Smooth Muscle	rectum
20	chr4:119809600-119813800	Active TSS	Right Atrium	heart
21	chr4:119809600-119814400	Active TSS	Aorta	Aorta
22	chr4:119809600-119814400	Active TSS	Ovary	ovary
23	chr4:119809600-119816200	Active TSS	Stomach Smooth Muscle	stomach
24	chr4:119809800-119810800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr4:119809800-119810800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:119809800-119810800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:119809800-119811000	Active TSS	Fetal Heart	heart
28	chr4:119809800-119812200	Active TSS	Fetal Kidney	kidney
29	chr4:119809800-119813000	Active TSS	Left Ventricle	heart
30	chr4:119810000-119810800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:119810000-119810800	Active TSS	Brain Germinal Matrix	brain
32	chr4:119810000-119810800	Bivalent/Poised TSS	Colonic Mucosa	Colon
33	chr4:119810000-119810800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr4:119810000-119812400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:119810200-119810800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr4:119810200-119810800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:119810200-119810800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:119810200-119810800	Active TSS	Esophagus	oesophagus
39	chr4:119810200-119810800	Flanking Active TSS	Fetal Lung	lung
40	chr4:119810200-119810800	Active TSS	Fetal Muscle Trunk	muscle
41	chr4:119810200-119810800	Flanking Active TSS	NHEK	skin
42	chr4:119810200-119811800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:119810200-119812000	Active TSS	Fetal Muscle Leg	muscle
44	chr4:119810200-119813000	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr4:119810400-119810800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr4:119810400-119810800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr4:119810400-119810800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
48	chr4:119810400-119810800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr4:119810400-119810800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:119810400-119810800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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