Variant report

Variant	rs538978895
Chromosome Location	chr2:20314841-20314842
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20313769..20315604-chr2:20340680..20342893,2	MCF-7	breast:
2	chr2:20313389..20316167-chr2:20411646..20415090,3	MCF-7	breast:
3	chr2:20313693..20315548-chr2:20343549..20346217,2	MCF-7	breast:
4	chr2:20312716..20316154-chr2:20394135..20396612,3	MCF-7	breast:
5	chr2:20312519..20315301-chr2:20382441..20384884,2	MCF-7	breast:
6	chr2:20302713..20305705-chr2:20312784..20315987,4	MCF-7	breast:
7	chr2:20309388..20317484-chr2:20420940..20426619,17	MCF-7	breast:
8	chr2:20312607..20315159-chr2:20320979..20324527,5	MCF-7	breast:
9	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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
2	esv3323329	chr2:20314271-20318569	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 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	chr2:20311800-20315600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:20312400-20316600	Enhancers	Esophagus	oesophagus
7	chr2:20312800-20316800	Enhancers	Fetal Intestine Large	intestine
8	chr2:20313000-20315000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:20313000-20316200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:20313000-20316600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:20313000-20316800	Enhancers	Fetal Intestine Small	intestine
12	chr2:20313000-20317000	Enhancers	Stomach Mucosa	stomach
13	chr2:20313200-20315800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:20313200-20316200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:20313200-20316400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:20313200-20316800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:20313400-20316200	Enhancers	NHEK	skin
18	chr2:20313400-20316600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:20314000-20315000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr2:20314000-20315000	Flanking Active TSS	HepG2	liver
21	chr2:20314000-20316600	Enhancers	Gastric	stomach
22	chr2:20314200-20318000	Weak transcription	Spleen	Spleen
23	chr2:20314200-20322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:20314400-20316400	Enhancers	Colonic Mucosa	Colon
25	chr2:20314800-20317000	Weak transcription	Small Intestine	intestine

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