Variant report

Variant	rs550939420
Chromosome Location	chr12:123467819-123467820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123467561-123468273	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:123467355-123468402	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:123467481-123470043	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr12:123467178-123468063	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:123462020-123470019	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr12:123466333-123470624	K562	blood:	n/a	n/a
7	POLR2A	chr12:123467706-123468014	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:123467362-123467951	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:123467600-123469651	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:123467292-123468736	HCT-116	colon:	n/a	n/a
11	POLR2A	chr12:123467601-123468306	GM12892	blood:	n/a	n/a
12	POLR2A	chr12:123467144-123468216	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:123467503-123468229	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:123467447-123468502	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:123467458-123468062	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL2	chr12:123467485-123468285	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:123466896-123469748	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr12:123467205-123469730	HL-60	blood:	n/a	n/a
19	POLR2A	chr12:123467490-123468278	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:123467443-123467904	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:123467534-123468279	GM12891	blood:	n/a	n/a
22	POLR2A	chr12:123463863-123469964	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr12:123467431-123468257	GM12892	blood:	n/a	n/a
24	POLR2A	chr12:123467006-123468222	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:123467625-123468251	A549	lung:	n/a	n/a
26	POLR2A	chr12:123467522-123468433	HL-60	blood:	n/a	n/a
27	POLR2A	chr12:123466981-123470521	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:123467505-123468007	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:123466671-123468302	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:123467503-123468270	A549	lung:	n/a	n/a
31	POLR2A	chr12:123466949-123469534	K562	blood:	n/a	n/a
32	POLR2A	chr12:123466744-123467994	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:123467406-123470505	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:123467485-123467970	GM12891	blood:	n/a	n/a
35	POLR2A	chr12:123467628-123467859	A549	lung:	n/a	n/a
36	POLR2A	chr12:123467576-123468288	K562	blood:	n/a	n/a
37	POLR2A	chr12:123466468-123469539	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr12:123467700-123467875	A549	lung:	n/a	n/a
39	POLR2A	chr12:123461706-123470094	K562	blood:	n/a	n/a
40	POLR2A	chr12:123467521-123468220	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr12:123466890-123470357	K562	blood:	n/a	n/a
42	POLR2A	chr12:123467690-123468233	HCT-116	colon:	n/a	n/a
43	POLR2A	chr12:123462647-123470505	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:123467538-123468297	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123467419..123469042-chr12:123713866..123715628,2	K562	blood:
2	chr12:123467378..123471463-chr12:123484194..123486166,3	MCF-7	breast:
3	chr12:123467368..123470978-chr12:123525099..123527744,3	K562	blood:
4	chr12:123356737..123358240-chr12:123467000..123469929,2	MCF-7	breast:
5	chr12:123463210..123468211-chr12:123716151..123721062,7	MCF-7	breast:
6	chr12:123349459..123352177-chr12:123465556..123468107,2	K562	blood:
7	chr12:123465881..123468570-chr12:123716034..123719414,3	K562	blood:

No data

Variant related genes	Relation type
ABCB9	TF binding region
ENSG00000256152	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv899578	chr12:123459005-123474529	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv560493	chr12:123467325-123479623	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123461400-123473200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:123465800-123468200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:123466000-123469800	Enhancers	Fetal Heart	heart
4	chr12:123466200-123468000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:123466200-123468000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
6	chr12:123466200-123468600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:123466400-123468000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:123466400-123468000	Weak transcription	Fetal Kidney	kidney
9	chr12:123466400-123468000	Genic enhancers	Stomach Mucosa	stomach
10	chr12:123466400-123468200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:123466400-123468200	Genic enhancers	Placenta Amnion	Placenta Amnion
12	chr12:123466400-123468800	Genic enhancers	K562	blood
13	chr12:123466400-123470200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:123466400-123473400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:123466600-123468000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:123466600-123468000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:123466600-123468000	Genic enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:123466600-123468000	Genic enhancers	Fetal Lung	lung
19	chr12:123466600-123468000	Transcr. at gene 5' and 3'	HepG2	liver
20	chr12:123466600-123468200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:123466600-123468200	Genic enhancers	Gastric	stomach
22	chr12:123466600-123468400	Genic enhancers	Esophagus	oesophagus
23	chr12:123466600-123469000	Genic enhancers	Pancreas	Pancrea
24	chr12:123466600-123469200	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr12:123466600-123469400	Enhancers	NHDF-Ad	bronchial
26	chr12:123466600-123469600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:123466600-123469800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:123466600-123470000	Genic enhancers	Lung	lung
29	chr12:123466600-123470000	Enhancers	Right Atrium	heart
30	chr12:123466600-123470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:123466600-123471400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:123466800-123468000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:123466800-123468000	Genic enhancers	Fetal Brain Female	brain
35	chr12:123466800-123468200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:123466800-123468200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:123466800-123468200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:123466800-123469000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr12:123466800-123469600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:123466800-123469800	Enhancers	NH-A	brain
41	chr12:123466800-123470000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:123466800-123470200	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr12:123466800-123470400	Genic enhancers	Fetal Stomach	stomach
44	chr12:123466800-123471000	Genic enhancers	Liver	Liver
45	chr12:123466800-123472000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:123466800-123472400	Genic enhancers	Spleen	Spleen
47	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
48	chr12:123467000-123468000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:123467000-123468000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:123467000-123468000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin

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