Variant report

Variant	rs573139887
Chromosome Location	chr12:120636279-120636280
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120636134-120636649	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:120636195-120637300	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:120631371-120639781	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr12:120636178-120639074	A549	lung:	n/a	n/a
5	POLR2A	chr12:120636252-120638005	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:120632029-120639863	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:120636242-120637428	GM19193	blood:	n/a	n/a
8	POLR2A	chr12:120636228-120636649	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:120636195-120639774	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:120636186-120636537	HCT-116	colon:	n/a	n/a
11	POLR2A	chr12:120636127-120639423	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr12:120636151-120638027	GM12891	blood:	n/a	n/a
13	POLR2A	chr12:120635673-120639688	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:120632203-120639596	K562	blood:	n/a	n/a
15	POLR2A	chr12:120636134-120636446	K562	blood:	n/a	n/a
16	POLR2A	chr12:120636111-120637525	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:120635716-120639431	GM12892	blood:	n/a	n/a
18	ZNF384	chr12:120636163-120636352	K562	blood:	n/a	n/a
19	EP300	chr12:120636124-120636648	T-47D	breast:	n/a	n/a
20	POLR2A	chr12:120631475-120639779	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:120632190-120639605	GM12892	blood:	n/a	n/a
22	POLR2A	chr12:120636042-120639720	PANC-1	pancreas:	n/a	n/a
23	PML	chr12:120636084-120637114	K562	blood:	n/a	n/a
24	POLR2A	chr12:120632031-120639569	GM12892	blood:	n/a	n/a
25	POLR2A	chr12:120636133-120639305	U87	brain:	n/a	n/a
26	HEY1	chr12:120636156-120637525	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:120635672-120639608	GM12891	blood:	n/a	n/a
28	POLR2A	chr12:120636010-120639485	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr12:120635799-120639930	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:120635694-120639558	GM12891	blood:	n/a	n/a
31	POLR2A	chr12:120632184-120639485	GM12891	blood:	n/a	n/a
32	USF2	chr12:120634750-120637072	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:120636039-120639896	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:120636203-120637529	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:120636188-120637299	A549	lung:	n/a	n/a
36	POLR2A	chr12:120631828-120639777	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr12:120632144-120640040	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:120636191-120636380	A549	lung:	n/a	n/a
39	POLR2A	chr12:120636139-120637511	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr12:120636196-120639505	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:120636138-120636543	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr12:120631997-120639698	GM12892	blood:	n/a	n/a
43	CTCF	chr12:120636201-120636574	T-47D	breast:	n/a	n/a
44	POLR2A	chr12:120636219-120637343	A549	lung:	n/a	n/a
45	POLR2A	chr12:120636132-120639593	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:120635665-120636440	HL-60	blood:	n/a	n/a
47	POLR2A	chr12:120632082-120639796	U87	brain:	n/a	n/a
48	POLR2A	chr12:120632292-120639373	K562	blood:	n/a	n/a
49	POLR2A	chr12:120636223-120639618	PBDE	blood:	n/a	n/a
50	POLR2A	chr12:120635609-120639934	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120628864..120642103-chr12:120725347..120732286,54	K562	blood:
2	chr12:120628211..120641965-chr12:120660551..120674110,39	K562	blood:
3	chr12:120604047..120606522-chr12:120634932..120636493,2	MCF-7	breast:
4	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
5	chr12:120634142..120641127-chr12:120698850..120705439,14	K562	blood:
6	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
7	chr12:120575987..120578062-chr12:120634816..120636487,2	K562	blood:
8	chr12:120552903..120558662-chr12:120635855..120639972,12	MCF-7	breast:
9	chr12:120631139..120640506-chr12:120724902..120734482,54	K562	blood:
10	chr12:120635810..120640156-chr12:120882395..120885946,4	K562	blood:

No data

Variant related genes	Relation type
RPLP0	TF binding region
GCN1L1	TF binding region
PXN-AS1	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000123009	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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active 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	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS 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	484 gene(s)	inside rSNPs	diseases
7	esv3342155	chr12:120635177-120636532	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv973128	chr12:120635459-120637245	Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120633000-120637200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:120633000-120637800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:120633200-120638400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:120633400-120636400	Weak transcription	Fetal Brain Male	brain
5	chr12:120633400-120636800	Strong transcription	Fetal Stomach	stomach
6	chr12:120633400-120637200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:120633400-120637600	Genic enhancers	Liver	Liver
8	chr12:120633600-120636400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:120633600-120636400	Strong transcription	Lung	lung
10	chr12:120633600-120637000	Genic enhancers	Fetal Thymus	thymus
11	chr12:120633600-120638000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
12	chr12:120633600-120638200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:120633800-120636400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:120633800-120636400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:120633800-120636400	Genic enhancers	HepG2	liver
16	chr12:120633800-120636600	Strong transcription	Colonic Mucosa	Colon
17	chr12:120633800-120636800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:120633800-120636800	Strong transcription	Brain Anterior Caudate	brain
19	chr12:120633800-120636800	Strong transcription	Brain Hippocampus Middle	brain
20	chr12:120633800-120636800	Strong transcription	Fetal Intestine Large	intestine
21	chr12:120633800-120637200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:120633800-120637400	Strong transcription	Fetal Kidney	kidney
23	chr12:120633800-120637600	Genic enhancers	Placenta	Placenta
24	chr12:120633800-120638600	Transcr. at gene 5' and 3'	K562	blood
25	chr12:120634000-120636400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:120634000-120636400	Strong transcription	Primary B cells from cord blood	blood
27	chr12:120634000-120636400	Strong transcription	Primary T cells from cord blood	blood
28	chr12:120634000-120636400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:120634000-120636400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:120634000-120636400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr12:120634000-120636600	Strong transcription	Right Ventricle	heart
32	chr12:120634000-120636800	Strong transcription	Brain Cingulate Gyrus	brain
33	chr12:120634000-120636800	Strong transcription	Brain Substantia Nigra	brain
34	chr12:120634000-120636800	Strong transcription	Colon Smooth Muscle	Colon
35	chr12:120634000-120636800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:120634000-120636800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:120634000-120637000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:120634000-120637000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr12:120634000-120637000	Strong transcription	Rectal Smooth Muscle	rectum
40	chr12:120634000-120637200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:120634000-120637200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:120634000-120637400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:120634000-120637600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:120634200-120636400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:120634200-120636600	Genic enhancers	HSMM	muscle
46	chr12:120634200-120636800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:120634200-120636800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:120634200-120637400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:120634200-120637400	Strong transcription	Ovary	ovary
50	chr12:120634400-120636600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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