Variant report

Variant	rs185229599
Chromosome Location	chr12:49183681-49183682
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	CHD2	chr12:49182327-49183683	Hela-S3	cervix:	n/a	n/a
2	MAX	chr12:49182357-49183714	HepG2	liver:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
3	TCF12	chr12:49182758-49183989	A549	lung:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
4	TEAD4	chr12:49183590-49183915	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr12:49182754-49183686	HepG2	liver:	n/a	chr12:49183529-49183540 chr12:49183169-49183180 chr12:49182856-49182867
6	MAX	chr12:49182217-49183991	A549	lung:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
7	POLR2A	chr12:49183365-49183682	HCT-116	colon:	n/a	n/a
8	ZBTB7A	chr12:49182077-49183971	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
9	MAZ	chr12:49183540-49184016	Hela-S3	cervix:	n/a	n/a
10	TAF1	chr12:49182245-49183915	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:49183277-49183683	HCT-116	colon:	n/a	n/a
12	POLR2A	chr12:49183242-49183697	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:49183382-49183843	Hela-S3	cervix:	n/a	n/a
14	MAX	chr12:49182286-49183962	ECC-1	luminal epithelium:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
15	POLR2A	chr12:49183357-49183683	HepG2	liver:	n/a	n/a
16	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a
17	SIN3A	chr12:49183383-49183968	H1-hESC	embryonic stem cell:	n/a	chr12:49183413-49183424
18	REST	chr12:49182184-49183944	H1-neurons	neurons:	n/a	n/a
19	ZKSCAN1	chr12:49183650-49183761	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:49182109-49183722	ECC-1	luminal epithelium:	n/a	n/a
21	E2F6	chr12:49183207-49183685	A549	lung:	n/a	chr12:49183592-49183602
22	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
23	TCF12	chr12:49182272-49183741	ECC-1	luminal epithelium:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
24	POLR2A	chr12:49183268-49183701	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:49183620-49183770	SK-N-SH_RA	brain:	n/a	n/a
26	RCOR1	chr12:49183413-49183968	Hela-S3	cervix:	n/a	n/a
27	ZBTB7A	chr12:49183657-49183751	HepG2	liver:	n/a	n/a
28	MAZ	chr12:49182165-49183901	IMR90	lung:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
29	MAX	chr12:49182320-49183693	MCF-7	breast:	n/a	chr12:49183263-49183273 chr12:49183055-49183065

No.	Distal block	Cell Line	Cell type
1	chr12:49074389..49076545-chr12:49180456..49183753,3	MCF-7	breast:
2	chr12:49183065..49183767-chr12:49208148..49208948,2	MCF-7	breast:
3	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
4	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
5	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
6	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
7	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:
8	chr12:49158067..49160355-chr12:49182073..49184026,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNB3-1	chr12:49183649-49183902	NONHSAT028028

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000167535	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000257653	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000207467	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3409586	chr12:49181735-49184833	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
3	esv3359848	chr12:49182310-49184858	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
4	esv3421909	chr12:49183035-49184233	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49181200-49183800	Active TSS	Aorta	Aorta
2	chr12:49181600-49183800	Active TSS	Fetal Kidney	kidney
3	chr12:49181600-49184200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:49181800-49183800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:49181800-49183800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:49181800-49183800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:49181800-49183800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:49181800-49183800	Active TSS	Brain Angular Gyrus	brain
9	chr12:49181800-49183800	Active TSS	Fetal Intestine Large	intestine
10	chr12:49181800-49183800	Active TSS	Gastric	stomach
11	chr12:49181800-49183800	Active TSS	Right Atrium	heart
12	chr12:49181800-49183800	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr12:49181800-49184000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:49181800-49184000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:49182000-49183800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr12:49182000-49183800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr12:49182000-49183800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:49182000-49183800	Active TSS	NH-A	brain
20	chr12:49182000-49183800	Active TSS	NHDF-Ad	bronchial
21	chr12:49182000-49184000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr12:49182000-49184200	Active TSS	Brain Substantia Nigra	brain
23	chr12:49182200-49183800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:49182200-49183800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:49182200-49183800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr12:49182200-49183800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:49182200-49183800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:49182200-49183800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr12:49182200-49183800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr12:49182200-49183800	Active TSS	Colon Smooth Muscle	Colon
31	chr12:49182200-49183800	Active TSS	Duodenum Mucosa	Duodenum
32	chr12:49182200-49183800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:49182200-49183800	Active TSS	HMEC	breast
34	chr12:49182200-49184000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:49182200-49184200	Active TSS	Brain Anterior Caudate	brain
36	chr12:49182200-49184200	Active TSS	Brain Hippocampus Middle	brain
37	chr12:49182400-49183800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:49182400-49183800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:49182400-49183800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:49182400-49183800	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr12:49182400-49183800	Active TSS	Psoas Muscle	Psoas
42	chr12:49182600-49183800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:49183200-49183800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr12:49183200-49183800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr12:49183200-49183800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
46	chr12:49183200-49183800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:49183200-49188400	Weak transcription	NHEK	skin
48	chr12:49183400-49183800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:49183400-49183800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:49183400-49183800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links