Variant report

Variant	rs57673046
Chromosome Location	chr4:129519176-129519177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129515454..129517266-chr4:129517540..129521345,3	K562	blood:
2	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
3	chr4:129517277..129519592-chr4:129520940..129524376,4	K562	blood:
4	chr4:129517154..129519849-chr4:129521925..129523669,2	MCF-7	breast:
5	chr4:129503776..129506354-chr4:129516251..129520377,3	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000248802	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57404895	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58160513	0.94[ASN][1000 genomes]
rs60917665	1.00[ASN][1000 genomes]
rs72932252	0.94[ASN][1000 genomes]
rs72932254	0.94[ASN][1000 genomes]
rs72932256	0.88[ASN][1000 genomes]
rs72932269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846936	0.94[ASN][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	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
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129505800-129520400	Weak transcription	Gastric	stomach
2	chr4:129511800-129519800	Weak transcription	Right Ventricle	heart
3	chr4:129512800-129520400	Weak transcription	Left Ventricle	heart
4	chr4:129514200-129519800	Weak transcription	Fetal Heart	heart
5	chr4:129515000-129520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:129516600-129519200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:129517600-129519800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:129517600-129521600	Weak transcription	Right Atrium	heart
9	chr4:129517600-129522400	Enhancers	Brain Germinal Matrix	brain
10	chr4:129518000-129519200	Enhancers	Fetal Stomach	stomach
11	chr4:129518000-129521600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:129518000-129524000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:129518200-129519400	Enhancers	Psoas Muscle	Psoas
14	chr4:129518200-129519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:129518200-129520000	Weak transcription	Ovary	ovary
16	chr4:129518200-129521600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:129518400-129520400	Weak transcription	Stomach Mucosa	stomach
18	chr4:129518800-129521000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:129518800-129521000	Weak transcription	HepG2	liver
20	chr4:129518800-129523600	Enhancers	Pancreas	Pancrea
21	chr4:129519000-129519200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:129519000-129519200	Enhancers	Brain Hippocampus Middle	brain
23	chr4:129519000-129519800	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:129519000-129520000	Weak transcription	Fetal Kidney	kidney
25	chr4:129519000-129520400	Weak transcription	A549	lung
26	chr4:129519000-129520800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:129519000-129521600	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:129519000-129521600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:129519000-129523400	Enhancers	Skeletal Muscle Female	skeletal muscle

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