Variant report

Variant	rs73034872
Chromosome Location	chr2:190070168-190070169
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190062458..190066163-chr2:190067446..190071057,3	K562	blood:
2	chr2:190068274..190071014-chr2:190073430..190076156,3	K562	blood:
3	chr2:190069482..190073456-chr2:190088390..190091249,3	MCF-7	breast:
4	chr2:190069982..190071927-chr2:190089860..190092492,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16831319	0.88[ASN][1000 genomes]
rs2882732	1.00[AMR][1000 genomes]
rs59056520	1.00[EUR][1000 genomes]
rs6708744	0.92[ASN][1000 genomes]
rs6733797	0.92[ASN][1000 genomes]
rs7597151	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190064800-190073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:190065000-190073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:190068200-190070200	Enhancers	NHDF-Ad	bronchial
4	chr2:190068200-190070200	Enhancers	NHLF	lung
5	chr2:190068400-190070400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:190068800-190070200	Enhancers	NHEK	skin
7	chr2:190068800-190071200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:190069000-190070400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:190069200-190070200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:190069200-190070400	Flanking Active TSS	A549	lung
11	chr2:190069200-190071600	Enhancers	Hela-S3	cervix
12	chr2:190069400-190070200	Enhancers	K562	blood
13	chr2:190069400-190070400	Enhancers	Osteobl	bone
14	chr2:190069600-190070400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:190069600-190072200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:190069600-190072800	Weak transcription	HUVEC	blood vessel
17	chr2:190069600-190073000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:190069600-190073200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:190069800-190070800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:190069800-190072200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:190069800-190073200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:190069800-190073200	Weak transcription	HSMM	muscle
23	chr2:190069800-190073200	Weak transcription	NH-A	brain
24	chr2:190069800-190073600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:190069800-190074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:190070000-190073000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:190070000-190074600	Weak transcription	HMEC	breast

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