Variant report

Variant	rs10180374
Chromosome Location	chr2:190119081-190119082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190118168..190119811-chr2:190148102..190150928,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10165458	1.00[AMR][1000 genomes]
rs10165488	1.00[AMR][1000 genomes]
rs10166867	1.00[AMR][1000 genomes]
rs10168625	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10176299	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10182790	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10182959	1.00[AMR][1000 genomes]
rs10190048	1.00[AMR][1000 genomes]
rs10193357	1.00[AMR][1000 genomes]
rs10195176	1.00[AMR][1000 genomes]
rs10200629	1.00[YRI][hapmap]
rs10202897	1.00[AMR][1000 genomes]
rs10203522	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10205215	1.00[YRI][hapmap]
rs10210715	1.00[AMR][1000 genomes]
rs13382234	1.00[AMR][1000 genomes]
rs13385828	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13389070	1.00[AMR][1000 genomes]
rs13392441	1.00[AMR][1000 genomes]
rs13395385	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396958	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13398464	1.00[AMR][1000 genomes]
rs13401632	1.00[AMR][1000 genomes]
rs13405825	1.00[AMR][1000 genomes]
rs13407402	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13407452	1.00[YRI][hapmap]
rs13408124	1.00[AMR][1000 genomes]
rs13411962	1.00[AMR][1000 genomes]
rs13416565	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13419998	1.00[AMR][1000 genomes]
rs13420752	1.00[AMR][1000 genomes]
rs13421412	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13423791	1.00[AMR][1000 genomes]
rs13429781	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13430867	1.00[AMR][1000 genomes]
rs13431520	1.00[AMR][1000 genomes]
rs13433016	1.00[AMR][1000 genomes]
rs28475172	1.00[AMR][1000 genomes]
rs28712861	1.00[AMR][1000 genomes]
rs6732228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757248	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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1014747	chr2:190097979-190132854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190115600-190126200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:190117600-190119200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:190117800-190119600	Flanking Active TSS	A549	lung
4	chr2:190117800-190119800	Flanking Active TSS	NHDF-Ad	bronchial
5	chr2:190117800-190120000	Enhancers	HSMM	muscle
6	chr2:190117800-190120000	Enhancers	NHLF	lung
7	chr2:190118000-190119400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:190118000-190119800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:190118000-190119800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:190118000-190119800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:190118000-190119800	Enhancers	Fetal Lung	lung
12	chr2:190118200-190119200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:190118200-190119400	Enhancers	Hela-S3	cervix
14	chr2:190118200-190119800	Enhancers	NH-A	brain
15	chr2:190118200-190120000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:190118200-190120000	Enhancers	HMEC	breast
17	chr2:190118400-190119400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:190118400-190119800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:190118400-190120000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:190118600-190119400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:190118600-190119600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:190118600-190119600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:190118600-190119800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:190118600-190119800	Enhancers	Colon Smooth Muscle	Colon
25	chr2:190118600-190119800	Enhancers	Fetal Stomach	stomach
26	chr2:190118800-190119200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:190118800-190119800	Enhancers	Fetal Heart	heart
28	chr2:190119000-190119400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:190119000-190119400	Flanking Active TSS	Osteobl	bone
30	chr2:190119000-190119600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:190119000-190119600	Enhancers	Ovary	ovary
32	chr2:190119000-190119800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:190119000-190119800	Enhancers	Adipose Nuclei	Adipose
34	chr2:190119000-190119800	Enhancers	Aorta	Aorta
35	chr2:190119000-190119800	Enhancers	Fetal Muscle Leg	muscle
36	chr2:190119000-190119800	Enhancers	Stomach Smooth Muscle	stomach
37	chr2:190119000-190119800	Flanking Active TSS	HSMMtube	muscle
38	chr2:190119000-190119800	Flanking Active TSS	NHEK	skin

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