Variant report

Variant	rs3812847
Chromosome Location	chr13:76057740-76057741
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76051274..76054795-chr13:76057453..76061221,3	K562	blood:
2	chr13:76055248..76057886-chr13:76110224..76112780,4	MCF-7	breast:
3	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:

Variant related genes	Relation type
ENSG00000261553	Chromatin interaction
ENSG00000118939	Chromatin interaction
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs66813596	0.86[AFR][1000 genomes]
rs953109	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9573568	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9573569	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76056800-76060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:76056800-76060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:76056800-76060200	Weak transcription	Pancreas	Pancrea
4	chr13:76057000-76057800	Enhancers	Fetal Intestine Small	intestine
5	chr13:76057000-76058200	Weak transcription	Right Atrium	heart
6	chr13:76057000-76059000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr13:76057000-76059000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:76057000-76059400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:76057000-76059800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:76057000-76060200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:76057000-76060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:76057000-76060400	Weak transcription	K562	blood
13	chr13:76057000-76063400	Weak transcription	Hela-S3	cervix
14	chr13:76057000-76064800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:76057200-76057800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:76057200-76057800	Enhancers	Fetal Heart	heart
17	chr13:76057200-76058400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr13:76057200-76058600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr13:76057200-76059000	Weak transcription	NH-A	brain
20	chr13:76057200-76059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:76057200-76059200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:76057200-76059200	Weak transcription	HSMM	muscle
23	chr13:76057200-76059200	Weak transcription	NHEK	skin
24	chr13:76057200-76059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:76057200-76059600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:76057200-76059600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr13:76057200-76059800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr13:76057200-76059800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:76057200-76059800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr13:76057200-76060000	Weak transcription	HSMMtube	muscle
31	chr13:76057200-76060200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:76057200-76062000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:76057200-76063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:76057200-76063400	Weak transcription	Adipose Nuclei	Adipose
35	chr13:76057400-76057800	Enhancers	A549	lung
36	chr13:76057400-76057800	Enhancers	HMEC	breast
37	chr13:76057400-76058000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:76057400-76059200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:76057400-76059600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr13:76057400-76059800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:76057400-76059800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:76057400-76060000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:76057400-76060000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr13:76057400-76060200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr13:76057400-76060400	Weak transcription	GM12878-XiMat	blood
46	chr13:76057400-76061400	Weak transcription	Liver	Liver
47	chr13:76057400-76063600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:76057600-76057800	Enhancers	Brain Cingulate Gyrus	brain
49	chr13:76057600-76058400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:76057600-76058600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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