Variant report

Variant	rs56148233
Chromosome Location	chr3:119864897-119864898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119811328..119819569-chr3:119859303..119870611,43	MCF-7	breast:
2	chr3:119862753..119866394-chr3:119887362..119889316,3	MCF-7	breast:
3	chr3:119829682..119832031-chr3:119864501..119867434,2	MCF-7	breast:
4	chr3:119809272..119819238-chr3:119861129..119869186,35	MCF-7	breast:
5	chr3:119864581..119866968-chr3:119914610..119916835,2	MCF-7	breast:
6	chr3:119864838..119867291-chr3:119874320..119877276,3	MCF-7	breast:
7	chr3:119864495..119866427-chr3:119878369..119880021,2	K562	blood:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4563433	0.84[ASN][1000 genomes]
rs55903100	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs57072752	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs58075517	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs59250491	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs59426062	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6804257	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72954722	0.81[AMR][1000 genomes]
rs7641727	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv3967	chr3:119857708-119903115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119861200-119866000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:119862000-119867800	Enhancers	Placenta	Placenta
3	chr3:119862200-119866400	Enhancers	HepG2	liver
4	chr3:119862400-119865200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:119862600-119865000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:119862600-119868000	Enhancers	HMEC	breast
7	chr3:119863000-119865000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:119863000-119865000	Enhancers	HSMMtube	muscle
9	chr3:119863000-119865000	Enhancers	NHLF	lung
10	chr3:119863000-119865200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:119863000-119865200	Enhancers	NHDF-Ad	bronchial
12	chr3:119863000-119867200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:119863000-119867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:119863200-119865000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:119863200-119865000	Enhancers	Osteobl	bone
16	chr3:119863400-119867600	Enhancers	Fetal Intestine Small	intestine
17	chr3:119863600-119865400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:119863600-119865800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:119863600-119866000	Weak transcription	Adipose Nuclei	Adipose
20	chr3:119863600-119866000	Weak transcription	Fetal Lung	lung
21	chr3:119863600-119866000	Weak transcription	Left Ventricle	heart
22	chr3:119863600-119866000	Weak transcription	Lung	lung
23	chr3:119863600-119866200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:119863800-119865000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:119863800-119866200	Weak transcription	Fetal Heart	heart
26	chr3:119864200-119865000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:119864200-119865200	Flanking Active TSS	NHEK	skin
28	chr3:119864200-119868000	Enhancers	Fetal Intestine Large	intestine
29	chr3:119864400-119865000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:119864400-119866200	Enhancers	Esophagus	oesophagus
31	chr3:119864600-119865000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:119864600-119865200	Flanking Active TSS	Hela-S3	cervix
33	chr3:119864600-119866200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:119864600-119866400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr3:119864600-119871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:119864800-119865000	Enhancers	Right Atrium	heart
37	chr3:119864800-119865000	Enhancers	A549	lung
38	chr3:119864800-119865200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:119864800-119865200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:119864800-119866000	Weak transcription	HUVEC	blood vessel
41	chr3:119864800-119866400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:119864800-119866400	Weak transcription	Stomach Mucosa	stomach
43	chr3:119864800-119866800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:119864800-119871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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