Variant report

Variant	rs530508529
Chromosome Location	chr2:20378259-20378260
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	chr2:20364027..20368295-chr2:20377113..20381748,5	MCF-7	breast:
2	chr2:20377278..20381105-chr2:20382551..20387503,5	K562	blood:
3	chr2:20364604..20368497-chr2:20376297..20379611,4	MCF-7	breast:
4	chr2:20307232..20308797-chr2:20378092..20380183,2	MCF-7	breast:
5	chr2:20348330..20350992-chr2:20378144..20381464,4	MCF-7	breast:
6	chr2:20339624..20342165-chr2:20377427..20379627,2	MCF-7	breast:
7	chr2:20369269..20371931-chr2:20376136..20379582,4	MCF-7	breast:
8	chr2:20338664..20345614-chr2:20377409..20381353,9	MCF-7	breast:

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1004083	chr2:20336237-20388138	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1004947	chr2:20342264-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv997958	chr2:20349343-20386339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1005524	chr2:20349343-20388138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv998067	chr2:20350751-20386339	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1001531	chr2:20350751-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1007926	chr2:20350751-20393557	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv991709	chr2:20376888-20383371	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20367800-20383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:20370200-20379800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:20371600-20380800	Weak transcription	Lung	lung
4	chr2:20373000-20384200	Weak transcription	Fetal Lung	lung
5	chr2:20373800-20378400	Weak transcription	HMEC	breast
6	chr2:20374000-20378600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:20376200-20386200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:20376600-20381000	Enhancers	NHEK	skin
9	chr2:20377000-20379200	Enhancers	HepG2	liver
10	chr2:20377200-20378800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:20377200-20381000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:20377200-20381600	Weak transcription	K562	blood
13	chr2:20377200-20386200	Enhancers	Esophagus	oesophagus
14	chr2:20377200-20388200	Enhancers	Stomach Mucosa	stomach
15	chr2:20377400-20379600	Enhancers	Fetal Intestine Large	intestine
16	chr2:20377400-20381800	Enhancers	Gastric	stomach
17	chr2:20377400-20382200	Enhancers	Colonic Mucosa	Colon
18	chr2:20377400-20384800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:20377400-20390000	Enhancers	Placenta	Placenta
20	chr2:20377600-20380400	Enhancers	Fetal Intestine Small	intestine
21	chr2:20377600-20386000	Enhancers	Liver	Liver
22	chr2:20377800-20378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:20377800-20379600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:20377800-20380200	Enhancers	Pancreas	Pancrea
25	chr2:20378000-20378600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:20378000-20378800	Enhancers	A549	lung
27	chr2:20378000-20379200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr2:20378000-20380000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:20378000-20380400	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:20378200-20378400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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