Variant report

Variant	rs73918320
Chromosome Location	chr2:19985197-19985198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:19984516..19987082-chr2:19990162..19992121,2	MCF-7	breast:
2	chr2:19983582..19988390-chr2:19994942..20000184,6	MCF-7	breast:
3	chr2:19984950..19987899-chr2:19994485..19997173,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56778005	1.00[AFR][1000 genomes]
rs73918321	1.00[AFR][1000 genomes]
rs73918322	1.00[AFR][1000 genomes]
rs73918324	1.00[AFR][1000 genomes]
rs73918326	0.93[AFR][1000 genomes]
rs73918328	0.81[AFR][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	nsv873710	chr2:19908539-20026319	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv873711	chr2:19950864-20073860	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv581154	chr2:19974697-19995470	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3405315	chr2:19981971-19986169	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1847856	chr2:19983563-19989402	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1850703	chr2:19983563-20011972	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:19977200-19985200	Weak transcription	Aorta	Aorta
2	chr2:19981400-19985600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:19983000-19986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:19984200-19985200	Weak transcription	K562	blood
5	chr2:19984200-19987000	Enhancers	HMEC	breast
6	chr2:19984200-19987800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:19984400-19985200	Enhancers	Right Atrium	heart
8	chr2:19984400-19985600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr2:19984600-19986200	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:19984600-19986800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:19984600-19987000	Enhancers	Osteobl	bone
12	chr2:19984600-19987800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:19984800-19985200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:19984800-19985200	Active TSS	Right Ventricle	heart
15	chr2:19984800-19985600	Enhancers	Fetal Heart	heart
16	chr2:19984800-19986000	Enhancers	Fetal Muscle Leg	muscle
17	chr2:19984800-19986400	Enhancers	Left Ventricle	heart
18	chr2:19984800-19986800	Enhancers	Adipose Nuclei	Adipose
19	chr2:19984800-19986800	Enhancers	Psoas Muscle	Psoas
20	chr2:19984800-19987000	Enhancers	Hela-S3	cervix
21	chr2:19984800-19987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:19984800-19987200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:19985000-19986000	Weak transcription	HUVEC	blood vessel

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