Variant report

Variant	rs60570598
Chromosome Location	chr4:129383946-129383947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129381583..129384122-chr4:129730214..129732129,2	MCF-7	breast:
2	chr4:129379169..129381936-chr4:129382179..129384098,2	MCF-7	breast:
3	chr4:129382385..129384000-chr4:129736037..129738354,2	K562	blood:
4	chr4:129374916..129379129-chr4:129379384..129385418,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251432	Chromatin interaction
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1011367	0.99[ASN][1000 genomes]
rs11098961	1.00[EUR][1000 genomes]
rs17013258	1.00[EUR][1000 genomes]
rs59018637	1.00[EUR][1000 genomes]
rs60220093	1.00[EUR][1000 genomes]
rs61052353	0.99[ASN][1000 genomes]
rs61069673	1.00[EUR][1000 genomes]
rs61268946	1.00[EUR][1000 genomes]
rs61356416	0.99[ASN][1000 genomes]
rs61697796	1.00[EUR][1000 genomes]
rs7687777	1.00[EUR][1000 genomes]
rs7695750	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129376000-129385000	Weak transcription	Brain Angular Gyrus	brain
2	chr4:129376600-129389600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:129376600-129393200	Weak transcription	Placenta	Placenta
4	chr4:129376600-129406200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:129376600-129435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:129377000-129388800	Weak transcription	Right Atrium	heart
7	chr4:129377000-129389000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:129377000-129397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:129377600-129394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:129378400-129388200	Weak transcription	Aorta	Aorta
11	chr4:129378800-129389400	Weak transcription	Brain Anterior Caudate	brain
12	chr4:129379400-129388800	Weak transcription	Left Ventricle	heart
13	chr4:129379600-129386400	Weak transcription	Psoas Muscle	Psoas
14	chr4:129380200-129384000	Enhancers	Hela-S3	cervix
15	chr4:129381200-129387800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:129381200-129388800	Weak transcription	Fetal Brain Male	brain
17	chr4:129381400-129384000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:129381400-129389000	Weak transcription	Fetal Brain Female	brain
19	chr4:129382200-129384000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:129382200-129384000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:129382600-129384000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr4:129382600-129384000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:129382600-129384000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:129382600-129384000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:129382800-129384200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:129382800-129386200	Weak transcription	Fetal Intestine Small	intestine
27	chr4:129382800-129388000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:129383000-129384200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:129383000-129387400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:129383000-129387600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:129383000-129389000	Weak transcription	Ovary	ovary
32	chr4:129383000-129389800	Weak transcription	HSMMtube	muscle
33	chr4:129383000-129398800	Weak transcription	Pancreas	Pancrea
34	chr4:129383200-129388000	Weak transcription	NHDF-Ad	bronchial
35	chr4:129383200-129389200	Weak transcription	NHLF	lung
36	chr4:129383400-129387800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:129383400-129388200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:129383400-129388400	Weak transcription	Osteobl	bone
39	chr4:129383600-129388800	Weak transcription	K562	blood
40	chr4:129383600-129389000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:129383800-129384000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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