Variant report

Variant	rs569574495
Chromosome Location	chr2:10150657-10150658
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	chr2:10150641-10151806	GM12878	blood:	n/a	n/a
2	RFX5	chr2:10148813-10150803	SK-N-SH	brain:	n/a	n/a
3	RFX5	chr2:10149946-10150668	IMR90	lung:	n/a	n/a
4	EP300	chr2:10148723-10151084	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr2:10150622-10151497	GM12878	blood:	n/a	n/a
6	TCF3	chr2:10150544-10156535	GM12878	blood:	n/a	chr2:10156466-10156482 chr2:10156466-10156481 chr2:10156469-10156478

No.	Distal block	Cell Line	Cell type
1	chr2:10147171..10148722-chr2:10150073..10151791,3	K562	blood:
2	chr2:10148714..10150676-chr2:10152229..10153770,2	MCF-7	breast:
3	chr2:10143972..10145495-chr2:10148319..10150993,2	K562	blood:
4	chr2:10149097..10150727-chr2:10180461..10182958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188525	TF binding region
ENSG00000260077	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

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	chr2:10146400-10150800	Enhancers	Colon Smooth Muscle	Colon
4	chr2:10146400-10150800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:10146400-10151200	Enhancers	Placenta	Placenta
6	chr2:10146800-10150800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr2:10146800-10150800	Enhancers	HSMM	muscle
8	chr2:10146800-10151000	Enhancers	NHDF-Ad	bronchial
9	chr2:10146800-10151200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:10147000-10150800	Enhancers	HSMMtube	muscle
11	chr2:10147200-10150800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:10147200-10151200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:10147600-10151000	Enhancers	NHLF	lung
14	chr2:10147800-10151200	Enhancers	Fetal Muscle Leg	muscle
15	chr2:10148200-10151000	Enhancers	Ovary	ovary
16	chr2:10148200-10151800	Enhancers	Lung	lung
17	chr2:10148400-10151200	Enhancers	Right Ventricle	heart
18	chr2:10148800-10153000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:10149000-10150800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:10149000-10150800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:10149200-10151000	Enhancers	Colonic Mucosa	Colon
22	chr2:10149200-10151000	Enhancers	Left Ventricle	heart
23	chr2:10149200-10151000	Enhancers	Right Atrium	heart
24	chr2:10149200-10151000	Enhancers	Osteobl	bone
25	chr2:10149200-10151600	Enhancers	Spleen	Spleen
26	chr2:10149200-10152000	Enhancers	Gastric	stomach
27	chr2:10149400-10150800	Enhancers	Brain Anterior Caudate	brain
28	chr2:10149400-10150800	Bivalent Enhancer	Fetal Stomach	stomach
29	chr2:10149400-10150800	Enhancers	Psoas Muscle	Psoas
30	chr2:10149400-10151200	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:10149600-10150800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:10149600-10150800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:10149600-10151000	Enhancers	Stomach Mucosa	stomach
34	chr2:10149600-10151200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:10149600-10152400	Enhancers	Adipose Nuclei	Adipose
36	chr2:10149800-10150800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:10149800-10150800	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr2:10149800-10151200	Enhancers	Fetal Heart	heart
39	chr2:10150000-10150800	Enhancers	Brain Hippocampus Middle	brain
40	chr2:10150000-10150800	Enhancers	Fetal Lung	lung
41	chr2:10150200-10151000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:10150400-10150800	Flanking Active TSS	Liver	Liver
43	chr2:10150400-10150800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:10150400-10150800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr2:10150400-10151200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:10150600-10150800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:10150600-10150800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:10150600-10150800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:10150600-10150800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:10150600-10150800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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