Variant report

Variant	rs548891721
Chromosome Location	chr12:33049816-33049817
allele	G/T
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	chr12:33049256-33050484	HepG2	liver:	n/a	n/a
2	MAX	chr12:33049187-33050429	HepG2	liver:	n/a	chr12:33049858-33049868
3	ZEB1	chr12:33049477-33050489	HepG2	liver:	n/a	chr12:33050124-33050131
4	POLR2A	chr12:33049809-33050222	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:33049405-33050390	K562	blood:	n/a	n/a
6	POLR2A	chr12:33049485-33050284	HCT-116	colon:	n/a	n/a
7	MAX	chr12:33049683-33050143	K562	blood:	n/a	chr12:33049858-33049868
8	HDAC2	chr12:33049512-33049880	HepG2	liver:	n/a	n/a
9	USF1	chr12:33049615-33050368	ECC-1	luminal epithelium:	n/a	chr12:33049870-33049886
10	NFIC	chr12:33049689-33050557	ECC-1	luminal epithelium:	n/a	chr12:33050298-33050314
11	MAX	chr12:33049290-33050203	HepG2	liver:	n/a	chr12:33049858-33049868
12	SIN3AK20	chr12:33049679-33050281	K562	blood:	n/a	n/a
13	ELF1	chr12:33049781-33050579	MCF-7	breast:	n/a	n/a
14	POLR2A	chr12:33049320-33050276	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:33049451-33049825	Hela-S3	cervix:	n/a	n/a
16	MYC	chr12:33049678-33050216	HepG2	liver:	n/a	chr12:33049858-33049868
17	MYC	chr12:33049803-33050294	MCF-7	breast:	n/a	chr12:33049858-33049868
18	TAF1	chr12:33049251-33050274	HepG2	liver:	n/a	n/a
19	HEY1	chr12:33049399-33050374	HepG2	liver:	n/a	chr12:33050037-33050052 chr12:33049867-33049882 chr12:33049740-33049755 chr12:33049869-33049884
20	RFX5	chr12:33049553-33050426	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:33049360-33050289	MCF-7	breast:	n/a	n/a
22	POLR2A	chr12:33049325-33050507	H1-hESC	embryonic stem cell:	n/a	n/a
23	EP300	chr12:33049675-33050537	ECC-1	luminal epithelium:	n/a	n/a
24	TAF1	chr12:33049304-33050201	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:33049278-33050451	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr12:33049462-33050266	K562	blood:	n/a	chr12:33049858-33049868
27	MAX	chr12:33049098-33050535	ECC-1	luminal epithelium:	n/a	chr12:33049858-33049868
28	POLR2A	chr12:33049520-33050231	K562	blood:	n/a	n/a
29	MAZ	chr12:33049362-33050379	Hela-S3	cervix:	n/a	chr12:33049858-33049868
30	MAX	chr12:33049717-33050578	ECC-1	luminal epithelium:	n/a	chr12:33049858-33049868
31	EGR1	chr12:33049725-33050318	ECC-1	luminal epithelium:	n/a	chr12:33050058-33050071 chr12:33049858-33049871 chr12:33049860-33049870
32	TFAP2C	chr12:33049497-33050565	Hela-S3	cervix:	n/a	chr12:33050112-33050127
33	MAX	chr12:33049738-33050457	MCF-7	breast:	n/a	chr12:33049858-33049868
34	TCF12	chr12:33049809-33050085	H1-hESC	embryonic stem cell:	n/a	chr12:33049943-33049950
35	MAZ	chr12:33049497-33050276	HepG2	liver:	n/a	chr12:33049858-33049868
36	TCF12	chr12:33049220-33050504	ECC-1	luminal epithelium:	n/a	chr12:33049943-33049950
37	NFIC	chr12:33049755-33050709	ECC-1	luminal epithelium:	n/a	chr12:33050298-33050314
38	NR2F2	chr12:33049748-33050604	MCF-7	breast:	n/a	n/a
39	MYC	chr12:33049687-33050253	K562	blood:	n/a	chr12:33049858-33049868
40	MAX	chr12:33049220-33050318	K562	blood:	n/a	chr12:33049858-33049868
41	MAX	chr12:33049250-33050249	K562	blood:	n/a	chr12:33049858-33049868
42	E2F6	chr12:33049239-33050245	K562	blood:	n/a	chr12:33049863-33049872 chr12:33049412-33049422
43	POLR2A	chr12:33049504-33050140	A549	lung:	n/a	n/a
44	POLR2A	chr12:33049788-33050292	H1-neurons	neurons:	n/a	n/a
45	ZBTB7A	chr12:33048568-33050411	ECC-1	luminal epithelium:	n/a	chr12:33049862-33049871 chr12:33049732-33049741
46	MAX	chr12:33049603-33050531	HCT-116	colon:	n/a	chr12:33049858-33049868
47	TEAD4	chr12:33049813-33050530	ECC-1	luminal epithelium:	n/a	n/a
48	TAF1	chr12:33049295-33050627	ECC-1	luminal epithelium:	n/a	n/a
49	MXI1	chr12:33049286-33050298	HepG2	liver:	n/a	n/a
50	MAX	chr12:33049601-33050425	HepG2	liver:	n/a	chr12:33049858-33049868

No.	Distal block	Cell Line	Cell type
1	chr12:33049597..33050305-chr19:6424445..6424971,2	HCT-116	colon:
2	chr12:33049705..33050388-chr22:43011186..43011805,2	Hela-S3	cervix:
3	chr12:33049077..33050069-chr16:2317510..2318347,2	Hela-S3	cervix:
4	chr12:33049269..33050202-chr17:42422178..42423144,2	Hela-S3	cervix:
5	chr12:32908157..32910268-chr12:33048253..33050625,4	MCF-7	breast:
6	chr12:33049643..33050326-chr7:2393292..2394114,2	Hela-S3	cervix:

Variant related genes	Relation type
PKP2	TF binding region
ENSG00000260778	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000030582	Chromatin interaction
ENSG00000205937	Chromatin interaction
ENSG00000088247	Chromatin interaction
ENSG00000106266	Chromatin interaction
ENSG00000139131	Chromatin interaction
ENSG00000106263	Chromatin interaction
ENSG00000207715	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3436441	chr12:33048510-33051058	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33044600-33050600	Active TSS	Right Atrium	heart
2	chr12:33045400-33051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:33046800-33050600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:33047000-33050200	Active TSS	Duodenum Mucosa	Duodenum
5	chr12:33047200-33050400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33047200-33050400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:33047400-33050000	Active TSS	Stomach Smooth Muscle	stomach
8	chr12:33047400-33050200	Active TSS	Stomach Mucosa	stomach
9	chr12:33047600-33050200	Active TSS	Fetal Heart	heart
10	chr12:33047800-33050200	Active TSS	HMEC	breast
11	chr12:33047800-33050400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:33047800-33050600	Active TSS	Placenta Amnion	Placenta Amnion
13	chr12:33048200-33050600	Active TSS	Ovary	ovary
14	chr12:33048200-33051200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:33048400-33050000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:33048400-33050000	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr12:33048400-33050200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:33048400-33050200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr12:33048400-33050400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:33048400-33050400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:33048400-33050400	Active TSS	Fetal Intestine Small	intestine
22	chr12:33048400-33050600	Active TSS	Fetal Kidney	kidney
23	chr12:33048400-33050600	Bivalent/Poised TSS	Thymus	Thymus
24	chr12:33048400-33051000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:33048600-33050000	Active TSS	Gastric	stomach
26	chr12:33048600-33050200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:33048600-33050200	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr12:33048600-33050200	Active TSS	NHEK	skin
29	chr12:33048600-33050400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:33048600-33050400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:33048600-33050400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:33048600-33050400	Bivalent/Poised TSS	Left Ventricle	heart
33	chr12:33048800-33050000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:33048800-33050000	Active TSS	Brain Substantia Nigra	brain
35	chr12:33048800-33050200	Active TSS	Primary T cells from cord blood	blood
36	chr12:33048800-33050600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:33048800-33050600	Active TSS	A549	lung
38	chr12:33048800-33050800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr12:33049000-33050000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
40	chr12:33049000-33050000	Active TSS	K562	blood
41	chr12:33049000-33050200	Active TSS	Colon Smooth Muscle	Colon
42	chr12:33049000-33050200	Active TSS	HSMMtube	muscle
43	chr12:33049000-33050400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:33049000-33050400	Active TSS	Brain Anterior Caudate	brain
45	chr12:33049000-33050400	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr12:33049000-33050400	Bivalent/Poised TSS	NH-A	brain
47	chr12:33049000-33050600	Active TSS	Fetal Brain Female	brain
48	chr12:33049000-33050800	Active TSS	Pancreas	Pancrea
49	chr12:33049000-33051000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr12:33049200-33050000	Active TSS	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links