Variant report

Variant	rs7698342
Chromosome Location	chr4:129379635-129379636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129379169..129381936-chr4:129382179..129384098,2	MCF-7	breast:
2	chr4:129378615..129381365-chr4:129381368..129383406,2	K562	blood:
3	chr4:129379341..129381342-chr4:129730925..129733925,3	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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17013164	0.82[EUR][1000 genomes]
rs34613566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59150919	0.82[EUR][1000 genomes]
rs60668559	0.82[EUR][1000 genomes]
rs6850541	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928249	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655383	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687138	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7694151	0.82[EUR][1000 genomes]
rs7694390	1.00[EUR][1000 genomes];0.95[ASN][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129375600-129381400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:129376000-129385000	Weak transcription	Brain Angular Gyrus	brain
3	chr4:129376600-129380200	Weak transcription	Hela-S3	cervix
4	chr4:129376600-129382200	Weak transcription	Fetal Intestine Small	intestine
5	chr4:129376600-129389600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:129376600-129393200	Weak transcription	Placenta	Placenta
7	chr4:129376600-129406200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:129376600-129435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:129376800-129382000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:129377000-129380600	Enhancers	Fetal Brain Female	brain
11	chr4:129377000-129382000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:129377000-129382200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:129377000-129382200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:129377000-129382400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:129377000-129388800	Weak transcription	Right Atrium	heart
16	chr4:129377000-129389000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:129377000-129397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:129377200-129381600	Weak transcription	HUVEC	blood vessel
19	chr4:129377600-129394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:129377800-129381200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:129377800-129382400	Weak transcription	Ovary	ovary
22	chr4:129378000-129382400	Weak transcription	Brain Substantia Nigra	brain
23	chr4:129378200-129381600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:129378400-129382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:129378400-129382400	Weak transcription	HSMMtube	muscle
26	chr4:129378400-129388200	Weak transcription	Aorta	Aorta
27	chr4:129378600-129381200	Enhancers	Fetal Brain Male	brain
28	chr4:129378800-129380000	Weak transcription	A549	lung
29	chr4:129378800-129381800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:129378800-129382000	Weak transcription	NHDF-Ad	bronchial
31	chr4:129378800-129382000	Weak transcription	Osteobl	bone
32	chr4:129378800-129382200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:129378800-129382200	Weak transcription	NHLF	lung
34	chr4:129378800-129382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:129378800-129389400	Weak transcription	Brain Anterior Caudate	brain
36	chr4:129379000-129382000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:129379400-129382200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:129379400-129388800	Weak transcription	Left Ventricle	heart
39	chr4:129379600-129386400	Weak transcription	Psoas Muscle	Psoas

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