Variant report

Variant	rs4632301
Chromosome Location	chr2:20385233-20385234
allele	A/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: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	chr2:20380951..20386083-chr2:20391129..20397009,8	MCF-7	breast:
2	chr2:20100444..20102626-chr2:20384873..20387447,2	K562	blood:
3	chr2:20377278..20381105-chr2:20382551..20387503,5	K562	blood:
4	chr2:20384920..20386704-chr2:20549838..20552413,2	MCF-7	breast:
5	chr2:20337465..20342202-chr2:20382545..20388364,6	MCF-7	breast:
6	chr2:20342469..20346864-chr2:20382569..20386022,5	MCF-7	breast:
7	chr2:20383626..20385611-chr2:20385923..20390219,5	MCF-7	breast:
8	chr2:20250231..20252461-chr2:20383464..20385595,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223734	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000183891	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7594796	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20376200-20386200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:20377200-20386200	Enhancers	Esophagus	oesophagus
3	chr2:20377200-20388200	Enhancers	Stomach Mucosa	stomach
4	chr2:20377400-20390000	Enhancers	Placenta	Placenta
5	chr2:20377600-20386000	Enhancers	Liver	Liver
6	chr2:20378400-20386600	Enhancers	HMEC	breast
7	chr2:20380400-20385800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:20381400-20386400	Enhancers	NHEK	skin
9	chr2:20381400-20387200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:20381600-20386200	Enhancers	Hela-S3	cervix
11	chr2:20381600-20387400	Enhancers	NH-A	brain
12	chr2:20381600-20388000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:20382200-20386600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:20382200-20386800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:20383000-20385400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:20383000-20385800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:20383000-20385800	Weak transcription	K562	blood
18	chr2:20383400-20386000	Enhancers	Fetal Intestine Large	intestine
19	chr2:20383600-20385600	Enhancers	Fetal Intestine Small	intestine
20	chr2:20383600-20386400	Enhancers	Pancreas	Pancrea
21	chr2:20383600-20386600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:20383600-20386800	Enhancers	HSMM	muscle
23	chr2:20383800-20389400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:20384000-20386000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:20384000-20386000	Enhancers	Colonic Mucosa	Colon
26	chr2:20384200-20385800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:20384200-20385800	Enhancers	Fetal Lung	lung
28	chr2:20384200-20386200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:20384200-20386800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:20384200-20388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:20384200-20389400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:20384200-20389600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:20384400-20386000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:20384400-20386400	Enhancers	Lung	lung
35	chr2:20384400-20387000	Enhancers	Primary hematopoietic stem cells	blood
36	chr2:20384400-20387000	Enhancers	Fetal Muscle Leg	muscle
37	chr2:20384400-20389800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:20384600-20385600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:20384600-20385600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:20384600-20385600	Weak transcription	Osteobl	bone
41	chr2:20384600-20386200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr2:20384600-20389400	Enhancers	A549	lung
43	chr2:20384600-20391800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:20384600-20392000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:20384600-20400000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:20384800-20386000	Enhancers	Fetal Stomach	stomach
47	chr2:20384800-20388000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:20384800-20389200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:20384800-20389600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:20385000-20385400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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