Variant report

Variant	rs530103178
Chromosome Location	chr12:51477153-51477154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:300)
CpG islands
(count:61)
Chromatin interactive
region (count:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:300 , 50 per page) page: 1 2 3 4 5 6

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	chr12:51477055-51477735	PBDE	blood:	n/a	n/a
4	JUND	chr12:51477131-51477701	MCF-7	breast:	n/a	n/a
5	ETS1	chr12:51477149-51477671	GM12878	blood:	n/a	chr12:51477491-51477504 chr12:51477492-51477499
6	POLR2A	chr12:51476925-51477713	GM15510	blood:	n/a	n/a
7	BCLAF1	chr12:51477113-51477686	GM12878	blood:	n/a	n/a
8	MAX	chr12:51477082-51477678	GM12878	blood:	n/a	n/a
9	TAF1	chr12:51477147-51477741	PFSK-1	brain:	n/a	n/a
10	MYC	chr12:51476857-51477681	K562	blood:	n/a	n/a
11	EP300	chr12:51477121-51477598	T-47D	breast:	n/a	n/a
12	YY1	chr12:51476894-51477746	ECC-1	luminal epithelium:	n/a	chr12:51477330-51477344 chr12:51477282-51477296 chr12:51476969-51476978 chr12:51477255-51477266
13	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
14	UBTF	chr12:51476726-51477648	K562	blood:	n/a	n/a
15	POLR2A	chr12:51477135-51477620	GM12878	blood:	n/a	n/a
16	BCL3	chr12:51476826-51477763	A549	lung:	n/a	chr12:51477093-51477102
17	MAZ	chr12:51477150-51477670	HepG2	liver:	n/a	n/a
18	CHD2	chr12:51476939-51477733	H1-hESC	embryonic stem cell:	n/a	chr12:51476967-51476977
19	POLR2A	chr12:51477068-51477627	GM12891	blood:	n/a	n/a
20	POLR2A	chr12:51477047-51477746	NB4	blood:	n/a	n/a
21	SP4	chr12:51477076-51477752	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:51476408-51477819	ECC-1	luminal epithelium:	n/a	n/a
23	TCF12	chr12:51477088-51477790	ECC-1	luminal epithelium:	n/a	chr12:51477252-51477262
24	CEBPD	chr12:51477027-51477624	HepG2	liver:	n/a	n/a
25	RAD21	chr12:51477145-51477668	SK-N-SH_RA	brain:	n/a	n/a
26	POLR2A	chr12:51477000-51477709	K562	blood:	n/a	n/a
27	TAF1	chr12:51476862-51477558	HepG2	liver:	n/a	n/a
28	CREB1	chr12:51477094-51477750	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMC3	chr12:51476775-51477706	Hela-S3	cervix:	n/a	n/a
30	MEF2A	chr12:51477065-51477740	GM12878	blood:	n/a	n/a
31	RDBP	chr12:51477093-51477540	K562	blood:	n/a	n/a
32	SMARCB1	chr12:51476592-51477625	Hela-S3	cervix:	n/a	n/a
33	CREB1	chr12:51476754-51477742	HepG2	liver:	n/a	n/a
34	CHD1	chr12:51477116-51477719	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:51477149-51477746	K562	blood:	n/a	n/a
36	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
37	TAF1	chr12:51476714-51477804	ECC-1	luminal epithelium:	n/a	n/a
38	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
39	POLR2A	chr12:51476758-51477662	HepG2	liver:	n/a	n/a
40	PBX3	chr12:51477125-51477694	A549	lung:	n/a	n/a
41	POLR2A	chr12:51476967-51477765	PANC-1	pancreas:	n/a	n/a
42	GABPA	chr12:51477061-51477888	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:51476800-51477592	A549	lung:	n/a	n/a
44	MXI1	chr12:51476851-51477731	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:51476598-51477625	GM12878	blood:	n/a	n/a
46	ELF1	chr12:51476997-51477699	GM12878	blood:	n/a	chr12:51477544-51477556 chr12:51477359-51477371
47	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
48	PML	chr12:51477056-51477793	MCF-7	breast:	n/a	n/a
49	EGR1	chr12:51477037-51477452	GM12878	blood:	n/a	chr12:51477258-51477268
50	PML	chr12:51476892-51477878	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51477122-51477172	SAEC	small airway:	n/a
2	chr12:51477122-51477172	GM12878	blood:	n/a
3	chr12:51477122-51477172	K562	blood:	n/a
4	chr12:51477122-51477172	GM19239	blood:	n/a
5	chr12:51477122-51477172	GM12891	blood:	n/a
6	chr12:51477122-51477172	A549	lung:	n/a
7	chr12:51477122-51477172	HCM	heart:	n/a
8	chr12:51477122-51477172	AG09319	gingival:	n/a
9	chr12:51477122-51477172	HEK293	kidney:	embryo
10	chr12:51477122-51477172	SK-N-SH	brain:	n/a
11	chr12:51477122-51477172	Caco-2	colon:	n/a
12	chr12:51477122-51477172	BE2_C	brain:	n/a
13	chr12:51477122-51477172	HAEpiC	amniotic membrane:	n/a
14	chr12:51477122-51477172	NB4	blood:	n/a
15	chr12:51477122-51477172	T-47D	breast:	n/a
16	chr12:51477122-51477172	H1-hESC	embryonic stem cell:	embryo
17	chr12:51477122-51477172	NHDF-neo	bronchial:	n/a
18	chr12:51477122-51477172	AoSMC	blood vessel:	n/a
19	chr12:51477122-51477172	NHBE	bronchial:	n/a
20	chr12:51477122-51477172	Hepatocyte	liver:	n/a
21	chr12:51477122-51477172	HMEC	breast:	n/a
22	chr12:51477122-51477172	HepG2	liver:	n/a
23	chr12:51477122-51477172	RPTEC	kidney:	n/a
24	chr12:51477122-51477172	HCPEpiC	choroid plexus:	n/a
25	chr12:51477122-51477172	MCF-7	breast:	n/a
26	chr12:51477122-51477172	IMR90	lung:	fetal
27	chr12:51477122-51477172	ovcar-3	ovarian:	n/a
28	chr12:51477122-51477172	HRCEpiC	kidney:	n/a
29	chr12:51477122-51477172	HCF	heart:	n/a
30	chr12:51477122-51477172	GM12892	blood:	n/a
31	chr12:51477122-51477172	SK-N-SH_RA	brain:	n/a
32	chr12:51477122-51477172	MCF10A-Er-Src	breast:	n/a
33	chr12:51477122-51477172	LNCaP	prostate:	n/a
34	chr12:51477122-51477172	PrEC	prostate:	n/a
35	chr12:51477122-51477172	AG10803	skin:	n/a
36	chr12:51477122-51477172	PANC-1	pancreas:	n/a
37	chr12:51477122-51477172	HNPCEpiC	eye:	n/a
38	chr12:51477122-51477172	HRPEpiC	eye:	n/a
39	chr12:51477122-51477172	PFSK-1	brain:	n/a
40	chr12:51477122-51477172	HEEpiC	esophagus:	n/a
41	chr12:51477122-51477172	GM06990	blood:	n/a
42	chr12:51477122-51477172	AG04449	skin:	fetal
43	chr12:51477122-51477172	ProgFib	skin:	n/a
44	chr12:51477122-51477172	AG04450	lung:	fetal
45	chr12:51477122-51477172	ECC-1	luminal epithelium:	n/a
46	chr12:51477122-51477172	AG09309	skin:	n/a
47	chr12:51477122-51477172	CMK	blood:	n/a
48	chr12:51477122-51477172	HL-60	blood:	n/a
49	chr12:51477122-51477172	BJ	skin:	n/a
50	chr12:51477122-51477172	U87	brain:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:51477103..51477720-chr19:6767044..6767694,2	Hela-S3	cervix:
2	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
3	chr12:51477125..51477670-chr20:30194535..30195533,2	HCT-116	colon:
4	chr12:51476737..51477475-chr9:115512516..115513185,2	Hela-S3	cervix:
5	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:
6	chr12:51475743..51478565-chr12:51589965..51591842,3	MCF-7	breast:
7	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
8	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
9	chr12:51476335..51478466-chr12:51598022..51600514,2	K562	blood:
10	chr12:51419545..51420090-chr12:51477089..51478060,2	Hela-S3	cervix:
11	chr12:51476664..51478784-chr12:51519007..51521110,2	K562	blood:
12	chr12:51477083..51477763-chr5:60457969..60458573,2	Hela-S3	cervix:
13	chr12:51476890..51477794-chr13:60971024..60971613,2	NB4	blood:
14	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
15	chr12:51476081..51477615-chr12:51555734..51558069,2	MCF-7	breast:
16	chr1:144533622..144534350-chr12:51476813..51477576,2	Hela-S3	cervix:
17	chr12:51475977..51480172-chr12:51631546..51634625,6	K562	blood:
18	chr12:51429769..51432512-chr12:51476102..51478161,2	K562	blood:
19	chr12:51419463..51422870-chr12:51476162..51478400,3	K562	blood:
20	chr12:51475968..51477695-chr12:51663580..51665438,2	MCF-7	breast:
21	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
22	chr12:51475893..51478796-chr7:156799468..156802078,2	MCF-7	breast:
23	chr12:51475610..51478830-chr12:51601366..51604899,4	MCF-7	breast:
24	chr12:51156583..51159237-chr12:51477140..51478642,2	MCF-7	breast:
25	chr12:51476120..51478171-chr12:51663790..51665919,2	MCF-7	breast:
26	chr12:51477140..51477814-chr12:123011264..123011766,2	Hela-S3	cervix:
27	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
28	chr12:51442002..51442637-chr12:51476673..51477253,2	Hela-S3	cervix:
29	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
30	chr12:51473248..51478369-chr12:51498942..51502935,5	MCF-7	breast:
31	chr12:51440271..51447226-chr12:51475135..51479930,16	MCF-7	breast:
32	chr12:51476908..51477769-chr17:41465750..41466262,2	Hela-S3	cervix:
33	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
34	chr12:51449198..51451184-chr12:51475118..51478098,2	K562	blood:
35	chr11:62608959..62610579-chr12:51475660..51478228,2	MCF-7	breast:
36	chr12:51317560..51319540-chr12:51475708..51478523,2	K562	blood:
37	chr12:51417420..51423779-chr12:51473917..51478493,9	MCF-7	breast:
38	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
39	chr12:51419952..51421943-chr12:51475612..51477490,4	K562	blood:
40	chr12:51475917..51477628-chr12:51596948..51599509,2	MCF-7	breast:
41	chr12:51476711..51478527-chr15:22832264..22834283,2	MCF-7	breast:
42	chr12:51476941..51478857-chr12:51596013..51598733,2	MCF-7	breast:
43	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
44	chr12:51476647..51477383-chr15:59396869..59397844,2	Hela-S3	cervix:
45	chr12:51418513..51423622-chr12:51474378..51479071,10	MCF-7	breast:
46	chr12:51476979..51477514-chr20:30192734..30193287,2	Hela-S3	cervix:
47	chr12:51475846..51477585-chr12:51782020..51786385,4	MCF-7	breast:
48	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
49	chr12:51475324..51477948-chr12:51566462..51569488,3	MCF-7	breast:
50	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:

No data

Variant related genes	Relation type
CSRNP2	TF binding region
CSRNP2	CpG island
ENSG00000170545	Chromatin interaction
ENSG00000050438	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000157456	Chromatin interaction
ENSG00000148158	Chromatin interaction
ENSG00000151366	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000199824	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000130675	Chromatin interaction
ENSG00000153575	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000199903	Chromatin interaction
ENSG00000185432	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000083544	Chromatin interaction
ENSG00000259112	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000136141	Chromatin interaction
ENSG00000226609	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000257246	Chromatin interaction
ENSG00000244540	Chromatin interaction
ENSG00000125731	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