Variant report

Variant	rs185993
Chromosome Location	chr4:129279513-129279514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129277469..129279928-chr4:129306182..129308893,2	MCF-7	breast:
2	chr4:129209415..129211444-chr4:129279125..129281876,2	MCF-7	breast:
3	chr4:129266715..129269703-chr4:129277973..129279779,2	K562	blood:
4	chr4:129278687..129281100-chr4:129282894..129286153,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10049718	1.00[EUR][1000 genomes]
rs17013448	1.00[EUR][1000 genomes]
rs209981	1.00[EUR][1000 genomes]
rs453871	1.00[EUR][1000 genomes]
rs56317429	1.00[EUR][1000 genomes]
rs72932236	1.00[EUR][1000 genomes]
rs73850337	1.00[EUR][1000 genomes]
rs7690872	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129251400-129279600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:129268800-129280000	Weak transcription	Psoas Muscle	Psoas
3	chr4:129270600-129291800	Weak transcription	Aorta	Aorta
4	chr4:129271200-129281200	Enhancers	Placenta	Placenta
5	chr4:129274600-129281600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:129274800-129283200	Enhancers	Fetal Heart	heart
7	chr4:129275600-129279600	Weak transcription	Pancreas	Pancrea
8	chr4:129275800-129283800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:129276800-129279600	Weak transcription	Stomach Mucosa	stomach
10	chr4:129276800-129279800	Weak transcription	Small Intestine	intestine
11	chr4:129277400-129280200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:129277600-129279600	Enhancers	NHDF-Ad	bronchial
13	chr4:129277600-129280000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr4:129278000-129279800	Enhancers	Fetal Brain Male	brain
15	chr4:129278000-129280400	Enhancers	Osteobl	bone
16	chr4:129278000-129280600	Enhancers	A549	lung
17	chr4:129278200-129280000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:129278200-129280200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:129278200-129280400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:129278200-129280400	Enhancers	HSMM	muscle
21	chr4:129278200-129280600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:129278200-129280800	Enhancers	NHLF	lung
23	chr4:129278200-129281000	Enhancers	Fetal Muscle Leg	muscle
24	chr4:129278200-129281000	Enhancers	HSMMtube	muscle
25	chr4:129278400-129279600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:129278400-129279600	Enhancers	NHEK	skin
27	chr4:129278400-129280200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:129278400-129282800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:129278600-129280200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:129278600-129280400	Enhancers	Adipose Nuclei	Adipose
31	chr4:129278800-129280400	Enhancers	Hela-S3	cervix
32	chr4:129279000-129279600	Enhancers	Brain Hippocampus Middle	brain
33	chr4:129279000-129280000	Enhancers	Right Atrium	heart
34	chr4:129279000-129280200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:129279000-129280400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:129279000-129280400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:129279200-129279600	Weak transcription	Lung	lung
38	chr4:129279200-129279600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:129279200-129280000	Enhancers	Esophagus	oesophagus
40	chr4:129279200-129280000	Enhancers	NH-A	brain
41	chr4:129279200-129280200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:129279200-129280200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr4:129279200-129280200	Enhancers	HMEC	breast
44	chr4:129279200-129280200	Enhancers	K562	blood
45	chr4:129279200-129280600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:129279400-129279600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:129279400-129279800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:129279400-129280000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:129279400-129280000	Active TSS	Fetal Brain Female	brain
50	chr4:129279400-129280200	Enhancers	Gastric	stomach

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