Variant report

Variant	rs553661587
Chromosome Location	chr2:10150993-10150994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:10150872-10151542	GM12878	blood:	n/a	n/a
2	BCL3	chr2:10150641-10151806	GM12878	blood:	n/a	n/a
3	EP300	chr2:10148723-10151084	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr2:10150622-10151497	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:10150778-10151697	GM12892	blood:	n/a	n/a
6	POU2F2	chr2:10150777-10151728	GM12891	blood:	n/a	n/a
7	TCF3	chr2:10150544-10156535	GM12878	blood:	n/a	chr2:10156466-10156482 chr2:10156466-10156481 chr2:10156469-10156478

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10147171..10148722-chr2:10150073..10151791,3	K562	blood:
2	chr2:10143972..10145495-chr2:10148319..10150993,2	K562	blood:

Variant related genes	Relation type
ENSG00000188525	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3323180	chr2:10150026-10152874	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv20389	chr2:10150554-10157686	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv820666	chr2:10150554-10157686	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv580961	chr2:10150929-10156560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3405734	chr2:10150951-10153449	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10141600-10160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:10145800-10151000	Enhancers	Pancreas	Pancrea
3	chr2:10146400-10151200	Enhancers	Placenta	Placenta
4	chr2:10146800-10151000	Enhancers	NHDF-Ad	bronchial
5	chr2:10146800-10151200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:10147200-10151200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:10147600-10151000	Enhancers	NHLF	lung
8	chr2:10147800-10151200	Enhancers	Fetal Muscle Leg	muscle
9	chr2:10148200-10151000	Enhancers	Ovary	ovary
10	chr2:10148200-10151800	Enhancers	Lung	lung
11	chr2:10148400-10151200	Enhancers	Right Ventricle	heart
12	chr2:10148800-10153000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:10149200-10151000	Enhancers	Colonic Mucosa	Colon
14	chr2:10149200-10151000	Enhancers	Left Ventricle	heart
15	chr2:10149200-10151000	Enhancers	Right Atrium	heart
16	chr2:10149200-10151000	Enhancers	Osteobl	bone
17	chr2:10149200-10151600	Enhancers	Spleen	Spleen
18	chr2:10149200-10152000	Enhancers	Gastric	stomach
19	chr2:10149400-10151200	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:10149600-10151000	Enhancers	Stomach Mucosa	stomach
21	chr2:10149600-10151200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:10149600-10152400	Enhancers	Adipose Nuclei	Adipose
23	chr2:10149800-10151200	Enhancers	Fetal Heart	heart
24	chr2:10150200-10151000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:10150400-10151200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:10150600-10151200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:10150600-10151200	Enhancers	Esophagus	oesophagus
28	chr2:10150800-10151000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:10150800-10151000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:10150800-10151000	Active TSS	Liver	Liver
31	chr2:10150800-10151200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:10150800-10151200	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:10150800-10151400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:10150800-10151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:10150800-10151600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:10150800-10153600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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