Variant report

Variant	rs375272574
Chromosome Location	chr1:227166146-227166147
allele	-/CCT
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	POLR2A	chr1:227165366-227166192	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:227164382-227167024	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227165601..227167978-chr1:227173311..227176266,3	MCF-7	breast:
2	chr1:227139663..227142101-chr1:227165412..227167064,2	K562	blood:
3	chr1:227163376..227165158-chr1:227165776..227167614,2	K562	blood:
4	chr1:227159722..227162799-chr1:227165393..227168885,3	K562	blood:

Variant related genes	Relation type
ADCK3	TF binding region
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873236	chr1:227118912-227173537	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
6	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3370387	chr1:227164229-227168527	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3339854	chr1:227164429-227167727	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv3365605	chr1:227165479-227167477	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv7871	chr1:227166112-227166594	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv3527356	chr1:227166137-227166494	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv3527358	chr1:227166137-227166494	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:227147000-227177000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
5	chr1:227154800-227176800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:227158400-227173200	Weak transcription	K562	blood
7	chr1:227158400-227174600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:227159000-227175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:227159800-227174000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:227160000-227173600	Weak transcription	A549	lung
12	chr1:227160000-227174400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:227160000-227174400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:227160000-227174800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:227160000-227177200	Weak transcription	GM12878-XiMat	blood
16	chr1:227160600-227175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:227160800-227181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:227162200-227166600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:227162200-227169400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:227162200-227176000	Strong transcription	Primary T cells from cord blood	blood
21	chr1:227162400-227173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:227162400-227174200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:227162400-227174200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:227162400-227175200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:227162400-227181600	Weak transcription	NHEK	skin
26	chr1:227162600-227174200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:227162600-227174200	Weak transcription	Aorta	Aorta
28	chr1:227162600-227175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:227162600-227176600	Strong transcription	Thymus	Thymus
30	chr1:227162800-227172000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:227162800-227173600	Weak transcription	NHLF	lung
32	chr1:227162800-227174000	Weak transcription	Osteobl	bone
33	chr1:227162800-227174200	Weak transcription	NHDF-Ad	bronchial
34	chr1:227163000-227166800	Weak transcription	Esophagus	oesophagus
35	chr1:227163000-227167800	Strong transcription	Lung	lung
36	chr1:227163000-227173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:227163000-227173600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:227163000-227174200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:227163000-227180000	Weak transcription	HSMM	muscle
40	chr1:227163200-227170400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:227163200-227172800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:227163200-227174000	Weak transcription	Small Intestine	intestine
43	chr1:227163200-227175400	Strong transcription	Fetal Intestine Small	intestine
44	chr1:227163400-227191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:227163800-227166600	Weak transcription	Brain Angular Gyrus	brain
46	chr1:227163800-227166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:227163800-227167600	Weak transcription	Placenta	Placenta
48	chr1:227163800-227176200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:227163800-227180400	Weak transcription	Fetal Brain Male	brain
50	chr1:227164200-227166600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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