Variant report

Variant	rs143004808
Chromosome Location	chr12:33049590-33049591
allele	C/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	chr12:33049405-33050390	K562	blood:	n/a	n/a
5	UBTF	chr12:33049261-33049643	K562	blood:	n/a	n/a
6	POLR2A	chr12:33049485-33050284	HCT-116	colon:	n/a	n/a
7	HDAC2	chr12:33049512-33049880	HepG2	liver:	n/a	n/a
8	MAX	chr12:33049290-33050203	HepG2	liver:	n/a	chr12:33049858-33049868
9	POLR2A	chr12:33049320-33050276	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:33049451-33049825	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr12:33049251-33050274	HepG2	liver:	n/a	n/a
12	HEY1	chr12:33049399-33050374	HepG2	liver:	n/a	chr12:33050037-33050052 chr12:33049867-33049882 chr12:33049740-33049755 chr12:33049869-33049884
13	RFX5	chr12:33049553-33050426	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:33049360-33050289	MCF-7	breast:	n/a	n/a
15	POLR2A	chr12:33049325-33050507	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr12:33049304-33050201	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:33049278-33050451	Hela-S3	cervix:	n/a	n/a
18	REST	chr12:33049360-33049722	SK-N-SH	brain:	n/a	chr12:33049418-33049428
19	MAZ	chr12:33049462-33050266	K562	blood:	n/a	chr12:33049858-33049868
20	MAX	chr12:33049098-33050535	ECC-1	luminal epithelium:	n/a	chr12:33049858-33049868
21	POLR2A	chr12:33049520-33050231	K562	blood:	n/a	n/a
22	MAZ	chr12:33049362-33050379	Hela-S3	cervix:	n/a	chr12:33049858-33049868
23	POLR2A	chr12:33049414-33049779	A549	lung:	n/a	n/a
24	REST	chr12:33049502-33049648	K562	blood:	n/a	n/a
25	TFAP2C	chr12:33049497-33050565	Hela-S3	cervix:	n/a	chr12:33050112-33050127
26	MAZ	chr12:33049497-33050276	HepG2	liver:	n/a	chr12:33049858-33049868
27	TCF12	chr12:33049220-33050504	ECC-1	luminal epithelium:	n/a	chr12:33049943-33049950
28	MAX	chr12:33049220-33050318	K562	blood:	n/a	chr12:33049858-33049868
29	MAX	chr12:33049250-33050249	K562	blood:	n/a	chr12:33049858-33049868
30	E2F6	chr12:33049239-33050245	K562	blood:	n/a	chr12:33049863-33049872 chr12:33049412-33049422
31	POLR2A	chr12:33049504-33050140	A549	lung:	n/a	n/a
32	ZBTB7A	chr12:33048568-33050411	ECC-1	luminal epithelium:	n/a	chr12:33049862-33049871 chr12:33049732-33049741
33	REST	chr12:33049437-33049738	PANC-1	pancreas:	n/a	n/a
34	REST	chr12:33049474-33049652	PFSK-1	brain:	n/a	n/a
35	TAF1	chr12:33049295-33050627	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr12:33049526-33049775	HepG2	liver:	n/a	n/a
37	MXI1	chr12:33049286-33050298	HepG2	liver:	n/a	n/a
38	SIN3A	chr12:33048615-33050382	H1-hESC	embryonic stem cell:	n/a	n/a
39	RCOR1	chr12:33049497-33050619	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr12:33049269-33049739	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZBTB7A	chr12:33049117-33050423	ECC-1	luminal epithelium:	n/a	chr12:33049862-33049871 chr12:33049732-33049741
42	REST	chr12:33049403-33049717	H1-hESC	embryonic stem cell:	n/a	chr12:33049418-33049428
43	SMARCB1	chr12:33048639-33050344	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:33049495-33049947	ProgFib	skin:	n/a	n/a
45	HMGN3	chr12:33049432-33050148	K562	blood:	n/a	n/a
46	MAX	chr12:33049071-33050520	A549	lung:	n/a	chr12:33049858-33049868
47	ZBTB7A	chr12:33049387-33050186	K562	blood:	n/a	chr12:33049862-33049871 chr12:33049732-33049741
48	POLR2A	chr12:33049450-33050064	HUVEC	blood vessel:	n/a	n/a
49	REST	chr12:33049403-33049775	HepG2	liver:	n/a	chr12:33049418-33049428
50	HEY1	chr12:33049509-33049781	HepG2	liver:	n/a	chr12:33049740-33049755

No.	Distal block	Cell Line	Cell type
1	chr12:33049077..33050069-chr16:2317510..2318347,2	Hela-S3	cervix:
2	chr12:33049269..33050202-chr17:42422178..42423144,2	Hela-S3	cervix:
3	chr12:32908157..32910268-chr12:33048253..33050625,4	MCF-7	breast:

Variant related genes	Relation type
PKP2	TF binding region
ENSG00000260778	Chromatin interaction
ENSG00000205937	Chromatin interaction
ENSG00000207715	Chromatin interaction
ENSG00000030582	Chromatin interaction
ENSG00000139131	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:118 , 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	chr12:33047600-33049600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr12:33047600-33050200	Active TSS	Fetal Heart	heart
11	chr12:33047800-33050200	Active TSS	HMEC	breast
12	chr12:33047800-33050400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:33047800-33050600	Active TSS	Placenta Amnion	Placenta Amnion
14	chr12:33048200-33049600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:33048200-33050600	Active TSS	Ovary	ovary
16	chr12:33048200-33051200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:33048400-33050000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:33048400-33050000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr12:33048400-33050200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:33048400-33050200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr12:33048400-33050400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:33048400-33050400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:33048400-33050400	Active TSS	Fetal Intestine Small	intestine
24	chr12:33048400-33050600	Active TSS	Fetal Kidney	kidney
25	chr12:33048400-33050600	Bivalent/Poised TSS	Thymus	Thymus
26	chr12:33048400-33051000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr12:33048600-33049600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:33048600-33049600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:33048600-33049600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
30	chr12:33048600-33049800	Active TSS	Psoas Muscle	Psoas
31	chr12:33048600-33050000	Active TSS	Gastric	stomach
32	chr12:33048600-33050200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:33048600-33050200	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr12:33048600-33050200	Active TSS	NHEK	skin
35	chr12:33048600-33050400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:33048600-33050400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr12:33048600-33050400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:33048600-33050400	Bivalent/Poised TSS	Left Ventricle	heart
39	chr12:33048800-33049600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:33048800-33049600	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr12:33048800-33049600	Bivalent/Poised TSS	Fetal Lung	lung
42	chr12:33048800-33050000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:33048800-33050000	Active TSS	Brain Substantia Nigra	brain
44	chr12:33048800-33050200	Active TSS	Primary T cells from cord blood	blood
45	chr12:33048800-33050600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:33048800-33050600	Active TSS	A549	lung
47	chr12:33048800-33050800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr12:33049000-33049600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr12:33049000-33049600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr12:33049000-33049600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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