Variant report

Variant	rs544705802
Chromosome Location	chr12:51477021-51477022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51476524-51477842	K562	blood:	n/a	n/a
2	HEY1	chr12:51477021-51477738	K562	blood:	n/a	chr12:51477229-51477244
3	POLR2A	chr12:51476925-51477713	GM15510	blood:	n/a	n/a
4	MYC	chr12:51476857-51477681	K562	blood:	n/a	n/a
5	YY1	chr12:51476894-51477746	ECC-1	luminal epithelium:	n/a	chr12:51477330-51477344 chr12:51477282-51477296 chr12:51476969-51476978 chr12:51477255-51477266
6	YY1	chr12:51476529-51477780	SK-N-SH	brain:	n/a	chr12:51477330-51477344 chr12:51476883-51476897 chr12:51477282-51477296 chr12:51476969-51476978 chr12:51477255-51477266
7	UBTF	chr12:51476726-51477648	K562	blood:	n/a	n/a
8	BCL3	chr12:51476826-51477763	A549	lung:	n/a	chr12:51477093-51477102
9	CHD2	chr12:51476939-51477733	H1-hESC	embryonic stem cell:	n/a	chr12:51476967-51476977
10	POLR2A	chr12:51476408-51477819	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:51477000-51477709	K562	blood:	n/a	n/a
12	TAF1	chr12:51476862-51477558	HepG2	liver:	n/a	n/a
13	SMC3	chr12:51476775-51477706	Hela-S3	cervix:	n/a	n/a
14	SMARCB1	chr12:51476592-51477625	Hela-S3	cervix:	n/a	n/a
15	CREB1	chr12:51476754-51477742	HepG2	liver:	n/a	n/a
16	EGR1	chr12:51476660-51477673	MCF-7	breast:	n/a	chr12:51477479-51477503 chr12:51477258-51477268 chr12:51476969-51476979 chr12:51477436-51477460 chr12:51476880-51476890 chr12:51476880-51476893
17	TAF1	chr12:51476714-51477804	ECC-1	luminal epithelium:	n/a	n/a
18	EGR1	chr12:51476756-51477603	ECC-1	luminal epithelium:	n/a	chr12:51477479-51477503 chr12:51477258-51477268 chr12:51476969-51476979 chr12:51477436-51477460 chr12:51476880-51476890 chr12:51476880-51476893
19	POLR2A	chr12:51476758-51477662	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:51476967-51477765	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr12:51476800-51477592	A549	lung:	n/a	n/a
22	MXI1	chr12:51476851-51477731	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:51476598-51477625	GM12878	blood:	n/a	n/a
24	ELF1	chr12:51476997-51477699	GM12878	blood:	n/a	chr12:51477544-51477556 chr12:51477359-51477371
25	EGR1	chr12:51476700-51477537	K562	blood:	n/a	chr12:51477479-51477503 chr12:51477258-51477268 chr12:51476969-51476979 chr12:51477436-51477460 chr12:51476880-51476890 chr12:51476880-51476893
26	PML	chr12:51476892-51477878	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:51476617-51477781	HUVEC	blood vessel:	n/a	n/a
28	ZNF263	chr12:51476185-51477665	HEK293-T-REx	kidney:	n/a	chr12:51477194-51477203 chr12:51477201-51477210
29	MXI1	chr12:51476820-51477626	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:51476470-51477744	ECC-1	luminal epithelium:	n/a	n/a
31	MYC	chr12:51476762-51477644	K562	blood:	n/a	n/a
32	POLR2A	chr12:51476382-51477731	K562	blood:	n/a	n/a
33	POLR2A	chr12:51476222-51477662	IMR90	lung:	n/a	n/a
34	POLR2A	chr12:51476710-51477741	HEK293	kidney:	n/a	n/a
35	RAD21	chr12:51476617-51477093	SK-N-SH_RA	brain:	n/a	n/a
36	YY1	chr12:51476950-51477642	HepG2	liver:	n/a	chr12:51477330-51477344 chr12:51477282-51477296 chr12:51476969-51476978 chr12:51477255-51477266
37	POLR2A	chr12:51476245-51477803	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:51476460-51477723	H1-hESC	embryonic stem cell:	n/a	n/a
39	EP300	chr12:51476509-51477904	ECC-1	luminal epithelium:	n/a	n/a
40	RCOR1	chr12:51476508-51477646	K562	blood:	n/a	n/a
41	CREB1	chr12:51476766-51477711	A549	lung:	n/a	n/a
42	CREB1	chr12:51476888-51477726	GM12878	blood:	n/a	n/a
43	BHLHE40	chr12:51476796-51477629	GM12878	blood:	n/a	chr12:51477330-51477346 chr12:51476982-51476998
44	MAX	chr12:51476788-51477687	K562	blood:	n/a	n/a
45	HDAC2	chr12:51476499-51477840	MCF-7	breast:	n/a	chr12:51477811-51477825 chr12:51477812-51477826 chr12:51477813-51477827
46	MYC	chr12:51476864-51477523	MCF-7	breast:	n/a	n/a
47	MAX	chr12:51476294-51477775	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr12:51476959-51477645	GM12891	blood:	n/a	n/a
49	POLR2A	chr12:51476448-51477700	Hela-S3	cervix:	n/a	n/a
50	E2F6	chr12:51476445-51477688	K562	blood:	n/a	chr12:51476966-51476978 chr12:51476880-51476890 chr12:51476969-51476978

No.	Distal block	Cell Line	Cell type
1	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
2	chr12:51397752..51401111-chr12:51474159..51477147,3	MCF-7	breast:
3	chr12:51476737..51477475-chr9:115512516..115513185,2	Hela-S3	cervix:
4	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:
5	chr12:51475743..51478565-chr12:51589965..51591842,3	MCF-7	breast:
6	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
7	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
8	chr12:51476335..51478466-chr12:51598022..51600514,2	K562	blood:
9	chr12:51476664..51478784-chr12:51519007..51521110,2	K562	blood:
10	chr12:51476890..51477794-chr13:60971024..60971613,2	NB4	blood:
11	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
12	chr12:51476081..51477615-chr12:51555734..51558069,2	MCF-7	breast:
13	chr1:144533622..144534350-chr12:51476813..51477576,2	Hela-S3	cervix:
14	chr12:51475977..51480172-chr12:51631546..51634625,6	K562	blood:
15	chr12:51429769..51432512-chr12:51476102..51478161,2	K562	blood:
16	chr12:51419463..51422870-chr12:51476162..51478400,3	K562	blood:
17	chr12:51475968..51477695-chr12:51663580..51665438,2	MCF-7	breast:
18	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
19	chr12:51475893..51478796-chr7:156799468..156802078,2	MCF-7	breast:
20	chr12:51475610..51478830-chr12:51601366..51604899,4	MCF-7	breast:
21	chr12:51476120..51478171-chr12:51663790..51665919,2	MCF-7	breast:
22	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
23	chr12:51442002..51442637-chr12:51476673..51477253,2	Hela-S3	cervix:
24	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
25	chr12:51473248..51478369-chr12:51498942..51502935,5	MCF-7	breast:
26	chr12:51440271..51447226-chr12:51475135..51479930,16	MCF-7	breast:
27	chr12:51476908..51477769-chr17:41465750..41466262,2	Hela-S3	cervix:
28	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
29	chr12:51449198..51451184-chr12:51475118..51478098,2	K562	blood:
30	chr11:62608959..62610579-chr12:51475660..51478228,2	MCF-7	breast:
31	chr12:51317560..51319540-chr12:51475708..51478523,2	K562	blood:
32	chr12:51417420..51423779-chr12:51473917..51478493,9	MCF-7	breast:
33	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
34	chr12:51419952..51421943-chr12:51475612..51477490,4	K562	blood:
35	chr12:51475917..51477628-chr12:51596948..51599509,2	MCF-7	breast:
36	chr12:51476711..51478527-chr15:22832264..22834283,2	MCF-7	breast:
37	chr12:51476941..51478857-chr12:51596013..51598733,2	MCF-7	breast:
38	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
39	chr12:51476647..51477383-chr15:59396869..59397844,2	Hela-S3	cervix:
40	chr12:51418513..51423622-chr12:51474378..51479071,10	MCF-7	breast:
41	chr12:51476979..51477514-chr20:30192734..30193287,2	Hela-S3	cervix:
42	chr12:51475846..51477585-chr12:51782020..51786385,4	MCF-7	breast:
43	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
44	chr12:51475324..51477948-chr12:51566462..51569488,3	MCF-7	breast:
45	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:
46	chr12:51474348..51478730-chr12:51495114..51501288,7	K562	blood:
47	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
48	chr12:51476770..51477633-chr13:47127114..47127785,2	MCF-7	breast:
49	chr11:77790644..77791449-chr12:51476800..51477446,2	NB4	blood:
50	chr12:51440852..51445521-chr12:51475730..51478507,6	MCF-7	breast:

Variant related genes	Relation type
CSRNP2	TF binding region
ENSG00000110925	Chromatin interaction
ENSG00000148158	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000153575	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000130675	Chromatin interaction
ENSG00000199903	Chromatin interaction
ENSG00000050438	Chromatin interaction
ENSG00000244540	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000151366	Chromatin interaction
ENSG00000199824	Chromatin interaction
ENSG00000136141	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000226609	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000185432	Chromatin interaction
ENSG00000157456	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000083544	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000257246	Chromatin interaction
ENSG00000259112	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS 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	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	esv3410020	chr12:51475910-51478458	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 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	chr12:51475400-51477600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:51475600-51477800	Active TSS	HSMM	muscle
3	chr12:51475600-51478000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:51475800-51477600	Active TSS	Fetal Muscle Trunk	muscle
5	chr12:51476000-51477200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:51476000-51477600	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:51476000-51477800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:51476000-51477800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:51476000-51477800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:51476000-51477800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:51476200-51477200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:51476200-51477200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr12:51476200-51477400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:51476200-51477600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:51476200-51477600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:51476200-51477600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:51476200-51477600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:51476200-51477600	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr12:51476200-51477600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:51476200-51477600	Active TSS	Fetal Brain Female	brain
21	chr12:51476200-51477600	Active TSS	Fetal Intestine Small	intestine
22	chr12:51476200-51477800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:51476200-51477800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:51476200-51477800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:51476200-51477800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:51476200-51477800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:51476200-51477800	Active TSS	Aorta	Aorta
28	chr12:51476200-51477800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:51476200-51477800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:51476200-51477800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:51476200-51477800	Active TSS	Ovary	ovary
32	chr12:51476200-51477800	Active TSS	Pancreas	Pancrea
33	chr12:51476200-51477800	Active TSS	HSMMtube	muscle
34	chr12:51476200-51477800	Active TSS	NHDF-Ad	bronchial
35	chr12:51476200-51477800	Active TSS	NHLF	lung
36	chr12:51476200-51478000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:51476400-51477400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:51476400-51477400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:51476400-51477400	Active TSS	Gastric	stomach
40	chr12:51476400-51477600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:51476400-51477600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:51476400-51477600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:51476400-51477600	Active TSS	Brain Angular Gyrus	brain
44	chr12:51476400-51477600	Active TSS	Colon Smooth Muscle	Colon
45	chr12:51476400-51477600	Active TSS	Fetal Lung	lung
46	chr12:51476400-51477600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:51476400-51477600	Active TSS	Stomach Smooth Muscle	stomach
48	chr12:51476400-51477600	Active TSS	HMEC	breast
49	chr12:51476400-51477800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr12:51476400-51477800	Active TSS	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links