Variant report

Variant	rs4666765
Chromosome Location	chr2:189650831-189650832
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189469579..189472035-chr2:189650010..189652348,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10173369	0.83[ASN][1000 genomes]
rs1066766	0.83[ASN][1000 genomes]
rs11695316	1.00[JPT][hapmap]
rs12463744	1.00[JPT][hapmap]
rs13393057	1.00[JPT][hapmap]
rs13412448	1.00[JPT][hapmap]
rs1354902	1.00[JPT][hapmap]
rs1354910	1.00[JPT][hapmap]
rs1507551	1.00[JPT][hapmap]
rs1588121	0.83[ASN][1000 genomes]
rs28448381	0.83[ASN][1000 genomes]
rs4667246	1.00[AFR][1000 genomes]
rs698552	0.83[ASN][1000 genomes]
rs698554	0.83[ASN][1000 genomes]
rs698556	0.83[ASN][1000 genomes]
rs698557	0.83[ASN][1000 genomes]
rs7599978	0.83[ASN][1000 genomes]
rs7603970	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189648400-189651200	Enhancers	Osteobl	bone
2	chr2:189648400-189653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:189648600-189651600	Enhancers	NHDF-Ad	bronchial
4	chr2:189649000-189651400	Weak transcription	A549	lung
5	chr2:189649000-189652800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:189649200-189651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:189649200-189651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:189649200-189651200	Weak transcription	HMEC	breast
9	chr2:189649600-189651400	Enhancers	Colon Smooth Muscle	Colon
10	chr2:189650000-189651000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:189650000-189651200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:189650200-189652000	Enhancers	NHLF	lung
13	chr2:189650400-189651200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189650400-189651200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:189650400-189651200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:189650400-189651200	Enhancers	HSMMtube	muscle
17	chr2:189650400-189651400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:189650400-189651400	Enhancers	Ovary	ovary
19	chr2:189650400-189651600	Enhancers	Fetal Muscle Leg	muscle
20	chr2:189650400-189651800	Enhancers	HSMM	muscle
21	chr2:189650400-189653600	Enhancers	Fetal Stomach	stomach
22	chr2:189650400-189653800	Enhancers	Fetal Heart	heart
23	chr2:189650400-189654000	Enhancers	NH-A	brain
24	chr2:189650600-189651000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr2:189650600-189651000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr2:189650600-189651200	Enhancers	Adipose Nuclei	Adipose
27	chr2:189650600-189651400	Weak transcription	Aorta	Aorta
28	chr2:189650600-189653000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:189650800-189652000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:189650800-189652400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:189650800-189653200	Enhancers	HUVEC	blood vessel
32	chr2:189650800-189653800	Enhancers	NHEK	skin

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