Variant report

Variant	rs56078309
Chromosome Location	chr4:74736180-74736181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74736057..74738818-chr4:74920006..74922107,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248848	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17811212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs416046	0.82[AMR][1000 genomes]
rs62312441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62312442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62312449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74733600-74738800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74733800-74736400	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:74734000-74736400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:74734200-74737000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:74734400-74736200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:74734400-74736200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:74734400-74736200	Active TSS	Fetal Intestine Large	intestine
8	chr4:74734400-74736200	Active TSS	Right Atrium	heart
9	chr4:74734400-74736200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr4:74734400-74736200	Active TSS	A549	lung
11	chr4:74734400-74736400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:74734400-74736800	Active TSS	Pancreas	Pancrea
13	chr4:74734600-74736200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr4:74734600-74736200	Active TSS	Esophagus	oesophagus
15	chr4:74734800-74736200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:74734800-74736200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:74734800-74736200	Bivalent/Poised TSS	Psoas Muscle	Psoas
18	chr4:74734800-74736200	Active TSS	Spleen	Spleen
19	chr4:74734800-74736600	Active TSS	NHDF-Ad	bronchial
20	chr4:74734800-74736800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:74735000-74736800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:74735000-74737000	Active TSS	Muscle Satellite Cultured Cells	--
23	chr4:74735000-74737400	Active TSS	Primary hematopoietic stem cells	blood
24	chr4:74735200-74736200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:74735200-74736600	Flanking Active TSS	HMEC	breast
26	chr4:74735400-74736200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:74735400-74736200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr4:74735400-74736200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:74735400-74736200	Bivalent/Poised TSS	Small Intestine	intestine
30	chr4:74735400-74736400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:74735400-74736400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:74735400-74736400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr4:74735400-74736400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr4:74735400-74737000	Flanking Active TSS	HUVEC	blood vessel
35	chr4:74735400-74738000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr4:74735600-74736200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
37	chr4:74735600-74736400	Active TSS	Colonic Mucosa	Colon
38	chr4:74735600-74736400	Flanking Active TSS	NHEK	skin
39	chr4:74735800-74736200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:74735800-74736200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:74735800-74736200	Active TSS	Adipose Nuclei	Adipose
42	chr4:74735800-74736200	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr4:74735800-74736200	Enhancers	Left Ventricle	heart
44	chr4:74735800-74736200	Bivalent Enhancer	Thymus	Thymus
45	chr4:74735800-74736200	Enhancers	K562	blood
46	chr4:74735800-74736400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr4:74736000-74736200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:74736000-74736200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr4:74736000-74736200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr4:74736000-74736200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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