Variant report

Variant	rs72760489
Chromosome Location	chr1:227170297-227170298
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:227170253-227171744	K562	blood:	n/a	n/a
2	POLR2A	chr1:227170262-227170577	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:227169948-227170407	U87	brain:	n/a	n/a
4	POLR2A	chr1:227170173-227176506	K562	blood:	n/a	n/a
5	POLR2A	chr1:227170100-227173920	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:227167761-227175221	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:227170103-227170730	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:227169948-227179599	K562	blood:	n/a	n/a
9	POLR2A	chr1:227169045-227173238	A549	lung:	n/a	n/a
10	POLR2A	chr1:227168989-227174035	U87	brain:	n/a	n/a
11	POLR2A	chr1:227170107-227176585	K562	blood:	n/a	n/a
12	POLR2A	chr1:227169347-227174015	U87	brain:	n/a	n/a
13	POLR2A	chr1:227170188-227170427	HUVEC	blood vessel:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227160717..227162288-chr1:227169036..227170644,2	K562	blood:
2	chr1:227167759..227170320-chr1:227201779..227203715,2	K562	blood:

No data

Variant related genes	Relation type
ADCK3	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6697304	1.00[ASN][1000 genomes]
rs72748189	1.00[ASN][1000 genomes]
rs72762383	1.00[ASN][1000 genomes]
rs73086756	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

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	chr1:227162200-227176000	Strong transcription	Primary T cells from cord blood	blood
19	chr1:227162400-227173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:227162400-227174200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:227162400-227174200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:227162400-227175200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:227162400-227181600	Weak transcription	NHEK	skin
24	chr1:227162600-227174200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:227162600-227174200	Weak transcription	Aorta	Aorta
26	chr1:227162600-227175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:227162600-227176600	Strong transcription	Thymus	Thymus
28	chr1:227162800-227172000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:227162800-227173600	Weak transcription	NHLF	lung
30	chr1:227162800-227174000	Weak transcription	Osteobl	bone
31	chr1:227162800-227174200	Weak transcription	NHDF-Ad	bronchial
32	chr1:227163000-227173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:227163000-227173600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:227163000-227174200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:227163000-227180000	Weak transcription	HSMM	muscle
36	chr1:227163200-227170400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:227163200-227172800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:227163200-227174000	Weak transcription	Small Intestine	intestine
39	chr1:227163200-227175400	Strong transcription	Fetal Intestine Small	intestine
40	chr1:227163400-227191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:227163800-227176200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:227163800-227180400	Weak transcription	Fetal Brain Male	brain
43	chr1:227164200-227175800	Strong transcription	HepG2	liver
44	chr1:227164400-227172600	Strong transcription	Fetal Stomach	stomach
45	chr1:227164400-227174200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:227164400-227175600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:227164600-227173400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:227164600-227174200	Strong transcription	Colonic Mucosa	Colon
49	chr1:227164600-227175000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:227164800-227173400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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