Variant report

Variant	rs17811405
Chromosome Location	chr3:119863330-119863331
allele	C/T
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	chr3:119809272..119819238-chr3:119861129..119869186,35	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11705695	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11927947	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13075809	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13086387	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs13088757	0.83[CEU][hapmap]
rs13092071	0.83[CEU][hapmap]
rs334548	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes]
rs334550	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes]
rs34591954	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35450153	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67984114	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72625409	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73177923	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9849392	0.87[JPT][hapmap]

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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119844200-119863400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119860800-119864400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:119861200-119866000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:119862000-119867800	Enhancers	Placenta	Placenta
5	chr3:119862200-119866400	Enhancers	HepG2	liver
6	chr3:119862400-119863400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:119862400-119865200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:119862600-119864200	Enhancers	A549	lung
9	chr3:119862600-119864800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:119862600-119864800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:119862600-119865000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:119862600-119868000	Enhancers	HMEC	breast
13	chr3:119862800-119864200	Enhancers	NHEK	skin
14	chr3:119862800-119864800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:119862800-119864800	Enhancers	HSMM	muscle
16	chr3:119863000-119863400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:119863000-119863600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:119863000-119863600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:119863000-119863800	Enhancers	Fetal Heart	heart
20	chr3:119863000-119864600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:119863000-119865000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:119863000-119865000	Enhancers	HSMMtube	muscle
23	chr3:119863000-119865000	Enhancers	NHLF	lung
24	chr3:119863000-119865200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:119863000-119865200	Enhancers	NHDF-Ad	bronchial
26	chr3:119863000-119867200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr3:119863000-119867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:119863200-119863400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr3:119863200-119863400	Enhancers	Esophagus	oesophagus
30	chr3:119863200-119863600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:119863200-119863600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:119863200-119863600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:119863200-119863600	Enhancers	Adipose Nuclei	Adipose
34	chr3:119863200-119863600	Enhancers	Fetal Lung	lung
35	chr3:119863200-119863600	Enhancers	Lung	lung
36	chr3:119863200-119863600	Flanking Active TSS	Hela-S3	cervix
37	chr3:119863200-119863800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:119863200-119864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:119863200-119865000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:119863200-119865000	Enhancers	Osteobl	bone

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