Variant report

Variant	rs16831319
Chromosome Location	chr2:190150205-190150206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190139713..190141267-chr2:190148148..190150261,2	MCF-7	breast:
2	chr2:190090705..190091250-chr2:190150007..190150646,2	MCF-7	breast:
3	chr2:190143476..190146248-chr2:190148193..190151075,3	MCF-7	breast:
4	chr2:190087466..190090346-chr2:190148672..190151105,2	MCF-7	breast:
5	chr2:190118168..190119811-chr2:190148102..190150928,2	MCF-7	breast:
6	chr2:190029422..190031666-chr2:190149954..190151681,2	MCF-7	breast:
7	chr2:190014552..190015249-chr2:190149953..190150734,2	MCF-7	breast:
8	chr2:190088767..190093088-chr2:190148429..190152827,7	MCF-7	breast:

No data

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10931401	0.85[CEU][hapmap];0.94[CHB][hapmap]
rs1464135	0.94[CHB][hapmap]
rs4667268	0.86[CHB][hapmap]
rs59056520	0.85[ASN][1000 genomes]
rs6708744	0.94[ASN][1000 genomes]
rs6733797	0.94[ASN][1000 genomes]
rs73034872	0.88[ASN][1000 genomes]
rs7597151	0.95[ASN][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	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
4	nsv519299	chr2:190150205-190151140	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190149000-190150800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:190149200-190151000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:190149200-190153800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:190149400-190150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:190149400-190150800	Enhancers	Osteobl	bone
6	chr2:190149400-190152400	Enhancers	Hela-S3	cervix
7	chr2:190149400-190153400	Enhancers	NHDF-Ad	bronchial
8	chr2:190149400-190153600	Enhancers	NH-A	brain
9	chr2:190149400-190153600	Enhancers	NHLF	lung
10	chr2:190149600-190150600	Weak transcription	HMEC	breast
11	chr2:190149600-190151400	Flanking Active TSS	A549	lung
12	chr2:190149600-190153200	Enhancers	HSMM	muscle
13	chr2:190149600-190153400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:190149800-190150800	Weak transcription	HUVEC	blood vessel
15	chr2:190149800-190153200	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:190150000-190150800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:190150000-190152400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:190150000-190153000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:190150200-190150400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:190150200-190150600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:190150200-190150600	Enhancers	Colon Smooth Muscle	Colon
22	chr2:190150200-190151000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:190150200-190151200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:190150200-190151400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:190150200-190153400	Enhancers	HSMMtube	muscle

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