Variant report

Variant	rs73919270
Chromosome Location	chr2:20313973-20313974
allele	C/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20311588..20314270-chr2:20375383..20376972,2	MCF-7	breast:
2	chr2:20313769..20315604-chr2:20340680..20342893,2	MCF-7	breast:
3	chr2:20313389..20316167-chr2:20411646..20415090,3	MCF-7	breast:
4	chr2:20313693..20315548-chr2:20343549..20346217,2	MCF-7	breast:
5	chr2:20312716..20316154-chr2:20394135..20396612,3	MCF-7	breast:
6	chr2:20312519..20315301-chr2:20382441..20384884,2	MCF-7	breast:
7	chr2:20311235..20314165-chr2:20429589..20432745,4	MCF-7	breast:
8	chr2:20271098..20272306-chr2:20313307..20314343,4	MCF-7	breast:
9	chr2:20271313..20272085-chr2:20313545..20314285,3	MCF-7	breast:
10	chr2:20313583..20314286-chr2:20421022..20421966,2	MCF-7	breast:
11	chr2:20302713..20305705-chr2:20312784..20315987,4	MCF-7	breast:
12	chr2:20309388..20317484-chr2:20420940..20426619,17	MCF-7	breast:
13	chr2:20312607..20315159-chr2:20320979..20324527,5	MCF-7	breast:
14	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:
15	chr2:20311719..20314183-chr2:20423425..20424931,2	MCF-7	breast:
16	chr2:20313685..20314229-chr2:20322410..20323122,2	MCF-7	breast:
17	chr2:20271098..20271980-chr2:20313360..20314366,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200763	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13022175	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16987379	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7578149	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585046	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr2:20306600-20318400	Enhancers	Placenta	Placenta
2	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
3	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20309000-20315400	Weak transcription	Hela-S3	cervix
5	chr2:20310600-20314000	Weak transcription	Gastric	stomach
6	chr2:20311600-20314200	Weak transcription	Small Intestine	intestine
7	chr2:20311600-20314400	Weak transcription	Colonic Mucosa	Colon
8	chr2:20311800-20315600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:20312000-20314000	Enhancers	HepG2	liver
10	chr2:20312400-20316600	Enhancers	Esophagus	oesophagus
11	chr2:20312800-20316800	Enhancers	Fetal Intestine Large	intestine
12	chr2:20313000-20314000	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:20313000-20315000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:20313000-20316200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:20313000-20316600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:20313000-20316800	Enhancers	Fetal Intestine Small	intestine
17	chr2:20313000-20317000	Enhancers	Stomach Mucosa	stomach
18	chr2:20313200-20314000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:20313200-20314200	Enhancers	Spleen	Spleen
20	chr2:20313200-20314400	Enhancers	Adipose Nuclei	Adipose
21	chr2:20313200-20314600	Enhancers	Left Ventricle	heart
22	chr2:20313200-20315800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:20313200-20316200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:20313200-20316400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:20313200-20316800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:20313400-20314200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:20313400-20314400	Enhancers	HMEC	breast
28	chr2:20313400-20316200	Enhancers	NHEK	skin
29	chr2:20313400-20316600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:20313600-20314600	Enhancers	HUVEC	blood vessel
31	chr2:20313800-20314200	Enhancers	Lung	lung
32	chr2:20313800-20314400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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