Variant report

Variant	rs139430122
Chromosome Location	chr12:12510933-12510934
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:12509622-12511096	NB4	blood:	n/a	n/a
2	TBP	chr12:12510615-12511749	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:12509361-12511865	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:12509528-12511290	PBDE	blood:	n/a	n/a
5	MXI1	chr12:12509291-12510977	IMR90	lung:	n/a	n/a
6	POLR2A	chr12:12509442-12511869	GM18505	blood:	n/a	n/a
7	TBL1XR1	chr12:12509513-12511293	GM12878	blood:	n/a	n/a
8	CHD2	chr12:12509713-12510996	GM12878	blood:	n/a	n/a
9	TCF12	chr12:12509441-12510945	A549	lung:	n/a	chr12:12510084-12510091
10	TCF7L2	chr12:12509804-12510962	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:12509705-12510964	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:12509585-12511108	HL-60	blood:	n/a	n/a
13	RELA	chr12:12509504-12511659	GM15510	blood:	n/a	n/a
14	POLR2A	chr12:12509577-12510965	SK-N-MC	brain:	n/a	n/a
15	ELK1	chr12:12510773-12511202	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:12509631-12511016	Hela-S3	cervix:	n/a	n/a
17	BCLAF1	chr12:12509815-12510972	GM12878	blood:	n/a	chr12:12510259-12510272 chr12:12510326-12510339
18	TBP	chr12:12509569-12511377	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:12509351-12511855	GM12878	blood:	n/a	n/a
20	MAX	chr12:12510882-12511039	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:12509648-12511661	GM19099	blood:	n/a	n/a
22	MXI1	chr12:12509559-12511413	GM12878	blood:	n/a	n/a
23	USF2	chr12:12510578-12511245	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:12509798-12510974	IMR90	lung:	n/a	n/a
25	MAZ	chr12:12509273-12511643	IMR90	lung:	n/a	chr12:12510147-12510156
26	NFIC	chr12:12509255-12511326	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:12509564-12511516	GM12892	blood:	n/a	n/a
28	FOXM1	chr12:12509565-12511114	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr12:12509571-12511738	GM12878	blood:	n/a	n/a
30	FOXM1	chr12:12509871-12510935	GM12878	blood:	n/a	n/a
31	MTA3	chr12:12509452-12511037	GM12878	blood:	n/a	n/a
32	REST	chr12:12509535-12511500	H1-neurons	neurons:	n/a	chr12:12510491-12510504
33	YY1	chr12:12510622-12510968	SK-N-SH_RA	brain:	n/a	n/a
34	HCFC1	chr12:12509371-12512219	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr12:12509686-12511074	K562	blood:	n/a	n/a
36	FOXM1	chr12:12509726-12510979	ECC-1	luminal epithelium:	n/a	n/a
37	STAT3	chr12:12510802-12511070	MCF10A-Er-Src	breast:	n/a	n/a
38	WRNIP1	chr12:12510502-12511649	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:12509317-12511245	Hela-S3	cervix:	n/a	n/a
40	CHD1	chr12:12509523-12511862	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:12509663-12511174	GM12892	blood:	n/a	n/a
42	POLR2A	chr12:12509605-12511368	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr12:12509744-12511078	GM12891	blood:	n/a	n/a
44	PML	chr12:12509379-12511753	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:12509599-12511716	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:12509493-12510997	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:12509634-12511082	GM12891	blood:	n/a	n/a
48	MTA3	chr12:12509494-12511654	GM12878	blood:	n/a	n/a
49	MAX	chr12:12509672-12511316	Hela-S3	cervix:	n/a	chr12:12510147-12510156
50	MAX	chr12:12509666-12510997	NB4	blood:	n/a	chr12:12510147-12510156

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12510176..12510943-chr19:3500464..3501174,2	Hela-S3	cervix:
2	chr12:12507773..12511633-chr12:12848137..12852132,5	K562	blood:
3	chr12:12502870..12504833-chr12:12508269..12511200,3	K562	blood:
4	chr12:12509599..12512153-chr12:12848294..12850312,2	MCF-7	breast:
5	chr12:12419774..12421330-chr12:12508637..12511348,2	MCF-7	breast:
6	chr12:12510791..12511698-chrX:119797918..119798865,2	Hela-S3	cervix:
7	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
8	chr12:12501083..12504981-chr12:12508403..12511914,10	MCF-7	breast:
9	chr12:12501756..12503820-chr12:12509545..12511706,2	MCF-7	breast:
10	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
11	chr12:12508678..12514314-chr12:12868637..12874427,7	K562	blood:
12	chr12:12509330..12511597-chr12:12874960..12877485,2	K562	blood:
13	chr12:12508799..12512106-chr12:12876417..12880418,4	MCF-7	breast:
14	chr12:12509229..12511438-chr12:12866532..12868285,2	MCF-7	breast:
15	chr12:12419370..12422118-chr12:12510348..12512093,2	MCF-7	breast:
16	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
17	chr12:12510495..12512125-chr12:12760276..12763273,2	MCF-7	breast:
18	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:
19	chr12:12502870..12505613-chr12:12507814..12511200,4	K562	blood:

No data

Variant related genes	Relation type
LOH12CR2	TF binding region
ENSG00000111266	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000183150	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000129932	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12509200-12511200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:12509400-12511200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:12509400-12511400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:12509400-12511400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:12509400-12511400	Active TSS	Pancreas	Pancrea
6	chr12:12509400-12511400	Active TSS	Psoas Muscle	Psoas
7	chr12:12509400-12511600	Flanking Active TSS	HMEC	breast
8	chr12:12509400-12511800	Active TSS	Right Atrium	heart
9	chr12:12509600-12511000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:12509600-12511000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:12509600-12511000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:12509600-12511000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:12509600-12511000	Active TSS	Left Ventricle	heart
14	chr12:12509600-12511000	Active TSS	Ovary	ovary
15	chr12:12509600-12511200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:12509600-12511200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:12509600-12511200	Active TSS	Brain Substantia Nigra	brain
18	chr12:12509600-12511200	Active TSS	Right Ventricle	heart
19	chr12:12509600-12511400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:12509600-12511400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:12509600-12511400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:12509600-12511400	Active TSS	Colonic Mucosa	Colon
23	chr12:12509600-12511400	Active TSS	Fetal Muscle Trunk	muscle
24	chr12:12509600-12511400	Active TSS	HSMM	muscle
25	chr12:12509600-12511400	Active TSS	NHDF-Ad	bronchial
26	chr12:12509600-12511600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:12509600-12511600	Active TSS	Aorta	Aorta
28	chr12:12509600-12511600	Active TSS	Brain Angular Gyrus	brain
29	chr12:12509800-12511000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:12509800-12511000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:12509800-12511000	Active TSS	Brain Cingulate Gyrus	brain
32	chr12:12509800-12511000	Active TSS	Brain Hippocampus Middle	brain
33	chr12:12509800-12511000	Active TSS	A549	lung
34	chr12:12509800-12511200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:12509800-12511200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:12509800-12511400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:12509800-12511400	Active TSS	Esophagus	oesophagus
38	chr12:12509800-12511800	Active TSS	GM12878-XiMat	blood
39	chr12:12509800-12511800	Active TSS	K562	blood
40	chr12:12510000-12511000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:12510000-12511000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:12510000-12511000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:12510000-12511000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:12510000-12511000	Active TSS	Small Intestine	intestine
45	chr12:12510000-12511000	Active TSS	NHEK	skin
46	chr12:12510000-12511200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:12510000-12511600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:12510200-12511400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:12510200-12511600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr12:12510400-12511400	Flanking Active TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links