Variant report

Variant	rs137853048
Chromosome Location	chr12:49578959-49578960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49578939-49579080	Gliobla	brain:	n/a	n/a
2	POLR2A	chr12:49578367-49579450	SK-N-SH	brain:	n/a	n/a
3	HEY1	chr12:49578738-49579751	K562	blood:	n/a	n/a
4	POLR2A	chr12:49578653-49579773	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:49578754-49579446	A549	lung:	n/a	n/a
6	REST	chr12:49575982-49579090	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr12:49578744-49579295	H1-hESC	embryonic stem cell:	n/a	n/a
8	IRF4	chr12:49578957-49579276	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:49578704-49579748	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:49578663-49579788	GM12891	blood:	n/a	n/a
11	POLR2A	chr12:49578676-49579792	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:49578745-49579657	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:49578925-49579248	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:49578753-49579661	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:49578533-49579834	GM12892	blood:	n/a	n/a
16	HEY1	chr12:49578670-49579800	K562	blood:	n/a	n/a
17	POLR2A	chr12:49578680-49579818	GM12891	blood:	n/a	n/a
18	HEY1	chr12:49578916-49579370	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:49578607-49579894	GM12892	blood:	n/a	n/a
20	POLR2A	chr12:49578316-49579001	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr12:49578545-49579887	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:49578795-49579402	A549	lung:	n/a	n/a
23	POLR2A	chr12:49576836-49579887	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr12:49577041-49578970	IMR90	lung:	n/a	n/a
25	HEY1	chr12:49578899-49579083	HepG2	liver:	n/a	n/a
26	POU2F2	chr12:49578696-49579739	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:49578652-49579718	GM12891	blood:	n/a	n/a
28	POLR2A	chr12:49578722-49579790	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:49578793-49579751	A549	lung:	n/a	n/a
30	POLR2A	chr12:49578715-49579769	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr12:49578897-49579405	A549	lung:	n/a	n/a
32	POLR2A	chr12:49578572-49579820	GM12891	blood:	n/a	n/a
33	POLR2A	chr12:49578530-49579415	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr12:49578335-49579942	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:49578912-49579456	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:49578788-49579399	K562	blood:	n/a	n/a
37	POLR2A	chr12:49578660-49579460	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr12:49578739-49579324	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:49578586-49579795	GM12892	blood:	n/a	n/a
40	POLR2A	chr12:49578539-49579678	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr12:49578735-49579449	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:49578655-49579797	GM12892	blood:	n/a	n/a
43	POLR2A	chr12:49578741-49579773	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:49576997-49579245	HUVEC	blood vessel:	n/a	n/a
45	ZBTB33	chr12:49578679-49579803	K562	blood:	n/a	n/a
46	POLR2A	chr12:49578868-49579189	U87	brain:	n/a	n/a
47	POU2F2	chr12:49578760-49579784	GM12891	blood:	n/a	n/a
48	POLR2A	chr12:49578810-49579520	U87	brain:	n/a	n/a
49	POLR2A	chr12:49578353-49579001	H1-neurons	neurons:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49523298..49526534-chr12:49578242..49583023,5	K562	blood:
2	chr12:49455381..49457675-chr12:49576315..49579055,2	MCF-7	breast:
3	chr12:49523810..49525846-chr12:49575368..49579813,5	K562	blood:

No data

Variant related genes	Relation type
TUBA1C	TF binding region
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
5	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv976610	chr12:49577937-49580571	Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49570600-49581000	Weak transcription	GM12878-XiMat	blood
2	chr12:49574200-49580600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:49576000-49580800	Weak transcription	A549	lung
4	chr12:49576200-49579200	Weak transcription	Fetal Intestine Small	intestine
5	chr12:49576200-49580800	Weak transcription	Fetal Kidney	kidney
6	chr12:49576400-49580000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:49576800-49581800	Weak transcription	Liver	Liver
8	chr12:49577000-49579200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:49577000-49579400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:49577000-49580200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:49577000-49581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:49577200-49580200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:49577200-49580800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:49577200-49581000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:49577200-49581000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:49577400-49579200	Genic enhancers	Brain Inferior Temporal Lobe	brain
17	chr12:49577400-49579800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:49577400-49580000	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:49577400-49580200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:49577400-49580200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:49577400-49580400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:49577400-49580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:49577400-49580800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:49577400-49581000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:49577400-49581000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:49577400-49581000	Weak transcription	Colonic Mucosa	Colon
27	chr12:49577400-49581000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:49577400-49581800	Weak transcription	Pancreas	Pancrea
29	chr12:49577400-49581800	Weak transcription	Small Intestine	intestine
30	chr12:49577600-49579400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:49577600-49579600	Strong transcription	HSMM	muscle
32	chr12:49577600-49579800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:49577600-49579800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:49577600-49580000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:49577600-49580000	Strong transcription	NHDF-Ad	bronchial
36	chr12:49577600-49580600	Strong transcription	Adipose Nuclei	Adipose
37	chr12:49577600-49580800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:49577600-49581000	Strong transcription	Primary T cells from cord blood	blood
39	chr12:49577600-49581000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
40	chr12:49577800-49579400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:49577800-49579400	Weak transcription	Esophagus	oesophagus
42	chr12:49577800-49579600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:49577800-49579800	Weak transcription	Fetal Heart	heart
44	chr12:49577800-49580000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr12:49577800-49580200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:49577800-49580200	Strong transcription	Lung	lung
47	chr12:49577800-49580200	Weak transcription	HMEC	breast
48	chr12:49577800-49580200	Strong transcription	Osteobl	bone
49	chr12:49577800-49580400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:49577800-49580400	Strong transcription	Left Ventricle	heart

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