Variant report

Variant	rs559344926
Chromosome Location	chr12:120635369-120635370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120634619-120635925	K562	blood:	n/a	n/a
2	POLR2A	chr12:120631371-120639781	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr12:120632048-120635920	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:120632029-120639863	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:120634650-120636075	K562	blood:	n/a	n/a
6	POLR2A	chr12:120632135-120635622	GM12891	blood:	n/a	n/a
7	POLR2A	chr12:120632203-120639596	K562	blood:	n/a	n/a
8	POLR2A	chr12:120635227-120635637	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr12:120632153-120635516	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:120634619-120635867	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:120632269-120635730	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:120632286-120635888	K562	blood:	n/a	n/a
13	POLR2A	chr12:120634722-120635568	GM19099	blood:	n/a	n/a
14	POLR2A	chr12:120632158-120635679	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:120631475-120639779	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:120632190-120639605	GM12892	blood:	n/a	n/a
17	POLR2A	chr12:120632154-120635675	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:120631706-120635875	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:120634640-120635569	K562	blood:	n/a	n/a
20	POLR2A	chr12:120632217-120635677	GM12891	blood:	n/a	n/a
21	POLR2A	chr12:120632031-120639569	GM12892	blood:	n/a	n/a
22	POLR2A	chr12:120631711-120635880	MCF10A-Er-Src	breast:	n/a	n/a
23	MAFF	chr12:120635307-120635716	K562	blood:	n/a	n/a
24	POLR2A	chr12:120632260-120635714	GM12891	blood:	n/a	n/a
25	POU2F2	chr12:120634487-120635404	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:120634492-120635375	A549	lung:	n/a	n/a
27	POLR2A	chr12:120634595-120635921	SK-N-SH	brain:	n/a	n/a
28	HEY1	chr12:120634508-120635667	HepG2	liver:	n/a	n/a
29	PML	chr12:120634636-120635694	K562	blood:	n/a	n/a
30	HEY1	chr12:120632022-120635678	K562	blood:	n/a	chr12:120632300-120632315 chr12:120632461-120632476 chr12:120632302-120632317
31	PML	chr12:120632133-120635684	K562	blood:	n/a	chr12:120633279-120633287
32	POLR2A	chr12:120632184-120639485	GM12891	blood:	n/a	n/a
33	POLR2A	chr12:120634661-120635516	PBDE	blood:	n/a	n/a
34	USF2	chr12:120634750-120637072	Hela-S3	cervix:	n/a	n/a
35	TBL1XR1	chr12:120635215-120635592	K562	blood:	n/a	n/a
36	POLR2A	chr12:120632019-120635620	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr12:120631746-120635550	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:120631885-120635883	A549	lung:	n/a	n/a
39	POLR2A	chr12:120632057-120635628	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr12:120634654-120635656	HL-60	blood:	n/a	n/a
41	POLR2A	chr12:120631828-120639777	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr12:120635003-120635608	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:120632144-120640040	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:120634652-120635602	HCT-116	colon:	n/a	n/a
45	POLR2A	chr12:120632176-120636007	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr12:120632267-120636017	HepG2	liver:	n/a	n/a
47	HEY1	chr12:120634275-120635627	K562	blood:	n/a	n/a
48	POLR2A	chr12:120632212-120635977	U87	brain:	n/a	n/a
49	POLR2A	chr12:120634652-120635614	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr12:120631997-120639698	GM12892	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	chr12:120631139..120640506-chr12:120724902..120734482,54	K562	blood:
9	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
10	chr12:120633014..120635461-chr17:64959552..64961225,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPLP0	TF binding region
PXN-AS1	TF binding region
GCN1L1	TF binding region
ENSG00000123009	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000075461	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000089159	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120633000-120635400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:120633000-120637200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:120633000-120637800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:120633200-120635400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:120633200-120635400	Weak transcription	Fetal Heart	heart
6	chr12:120633200-120635800	Weak transcription	Right Atrium	heart
7	chr12:120633200-120636200	Genic enhancers	NHLF	lung
8	chr12:120633200-120638400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:120633400-120635800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:120633400-120636200	Genic enhancers	Adipose Nuclei	Adipose
11	chr12:120633400-120636200	Strong transcription	Fetal Lung	lung
12	chr12:120633400-120636400	Weak transcription	Fetal Brain Male	brain
13	chr12:120633400-120636800	Strong transcription	Fetal Stomach	stomach
14	chr12:120633400-120637200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:120633400-120637600	Genic enhancers	Liver	Liver
16	chr12:120633600-120635400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:120633600-120635800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr12:120633600-120636000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:120633600-120636200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:120633600-120636200	Genic enhancers	HMEC	breast
21	chr12:120633600-120636400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:120633600-120636400	Strong transcription	Lung	lung
23	chr12:120633600-120637000	Genic enhancers	Fetal Thymus	thymus
24	chr12:120633600-120638000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr12:120633600-120638200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:120633800-120635400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:120633800-120635400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:120633800-120635800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:120633800-120635800	Strong transcription	Spleen	Spleen
30	chr12:120633800-120636200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:120633800-120636200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:120633800-120636200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:120633800-120636200	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:120633800-120636200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:120633800-120636200	Strong transcription	Small Intestine	intestine
36	chr12:120633800-120636200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:120633800-120636200	Strong transcription	Thymus	Thymus
38	chr12:120633800-120636400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:120633800-120636400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:120633800-120636400	Genic enhancers	HepG2	liver
41	chr12:120633800-120636600	Strong transcription	Colonic Mucosa	Colon
42	chr12:120633800-120636800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:120633800-120636800	Strong transcription	Brain Anterior Caudate	brain
44	chr12:120633800-120636800	Strong transcription	Brain Hippocampus Middle	brain
45	chr12:120633800-120636800	Strong transcription	Fetal Intestine Large	intestine
46	chr12:120633800-120637200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:120633800-120637400	Strong transcription	Fetal Kidney	kidney
48	chr12:120633800-120637600	Genic enhancers	Placenta	Placenta
49	chr12:120633800-120638600	Transcr. at gene 5' and 3'	K562	blood
50	chr12:120634000-120635400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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