Variant report

Variant	rs112486008
Chromosome Location	chr12:124246567-124246568
allele	A/C
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	CTCF	chr12:124246500-124246650	GM12865	blood:	n/a	chr12:124246572-124246585
2	CTCF	chr12:124246500-124246650	GM12872	blood:	n/a	chr12:124246572-124246585
3	CTCF	chr12:124246420-124246570	BJ	skin:	n/a	n/a
4	SIN3A	chr12:124246456-124247060	GM12878	blood:	n/a	chr12:124246895-124246904
5	POLR2A	chr12:124245802-124247997	K562	blood:	n/a	n/a
6	RAD21	chr12:124246327-124246698	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:124246363-124246965	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr12:124246480-124246630	Caco-2	colon:	n/a	chr12:124246572-124246585
9	NFATC1	chr12:124246043-124247035	GM12878	blood:	n/a	n/a
10	CTCF	chr12:124246500-124246650	HA-sp	spinal cord:	n/a	chr12:124246572-124246585
11	CTCF	chr12:124246460-124246610	GM12864	blood:	n/a	chr12:124246572-124246585
12	CTCF	chr12:124246500-124246650	AoAF	blood vessel:	n/a	chr12:124246572-124246585
13	POLR2A	chr12:124246494-124246682	A549	lung:	n/a	n/a
14	CTCF	chr12:124246540-124246690	HAc	cerebellar:	n/a	chr12:124246572-124246585
15	CTCF	chr12:124246451-124246696	GM12878	blood:	n/a	chr12:124246572-124246585
16	NFATC1	chr12:124246137-124247075	GM12878	blood:	n/a	n/a
17	RAD21	chr12:124246471-124246639	IMR90	lung:	n/a	n/a
18	CTCF	chr12:124246544-124246619	MCF-7	breast:	n/a	chr12:124246572-124246585
19	CTCF	chr12:124246480-124246630	HFF	foreskin:	n/a	chr12:124246572-124246585
20	PML	chr12:124246395-124246588	GM12878	blood:	n/a	n/a
21	ATF2	chr12:124246313-124246745	GM12878	blood:	n/a	n/a
22	CTCF	chr12:124246480-124246630	HMEC	breast:	n/a	chr12:124246572-124246585
23	ZNF143	chr12:124246404-124246758	GM12878	blood:	n/a	chr12:124246734-124246744
24	SIN3AK20	chr12:124246341-124247081	PANC-1	pancreas:	n/a	n/a
25	RAD21	chr12:124246384-124246738	GM12878	blood:	n/a	n/a
26	CTCF	chr12:124246500-124246650	HVMF	connective:	n/a	chr12:124246572-124246585
27	PAX5	chr12:124246379-124247146	GM12892	blood:	n/a	chr12:124246769-124246778
28	CTCF	chr12:124246520-124246670	GM12868	blood:	n/a	chr12:124246572-124246585
29	JUND	chr12:124246390-124246605	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:124246517-124246625	HUVEC	blood vessel:	n/a	chr12:124246572-124246585
31	CTCF	chr12:124246425-124246717	IMR90	lung:	n/a	chr12:124246572-124246585
32	CTCF	chr12:124246480-124246630	AG09309	skin:	n/a	chr12:124246572-124246585
33	SIN3AK20	chr12:124246445-124246623	HepG2	liver:	n/a	n/a
34	CTCF	chr12:124246493-124246667	HepG2	liver:	n/a	chr12:124246572-124246585
35	CTCF	chr12:124246483-124246645	MCF-7	breast:	n/a	chr12:124246572-124246585
36	PAX5	chr12:124246338-124246666	GM12878	blood:	n/a	n/a
37	MAX	chr12:124246213-124247471	HepG2	liver:	n/a	chr12:124246832-124246841 chr12:124246915-124246922 chr12:124247235-124247242 chr12:124247234-124247243 chr12:124247196-124247206
38	YY1	chr12:124246337-124247139	GM12878	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124246689-124246700
39	MXI1	chr12:124245970-124247083	GM12878	blood:	n/a	n/a
40	CTCF	chr12:124246500-124246650	GM12871	blood:	n/a	chr12:124246572-124246585
41	CTCF	chr12:124246420-124246570	GM06990	blood:	n/a	n/a
42	CTCF	chr12:124246460-124246610	HRPEpiC	eye:	n/a	chr12:124246572-124246585
43	GTF2F1	chr12:124246511-124246664	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3A	chr12:124246344-124248011	H1-hESC	embryonic stem cell:	n/a	chr12:124247207-124247215 chr12:124246895-124246904
45	POLR2A	chr12:124246327-124246697	GM12891	blood:	n/a	n/a
46	TCF3	chr12:124246369-124246722	GM12878	blood:	n/a	n/a
47	POU2F2	chr12:124246336-124246620	GM12891	blood:	n/a	n/a
48	HDAC2	chr12:124246366-124247054	H1-hESC	embryonic stem cell:	n/a	chr12:124246949-124246968
49	PAX5	chr12:124246552-124247091	GM12891	blood:	n/a	chr12:124246769-124246778
50	CTCF	chr12:124246520-124246670	NHDF-neo	bronchial:	n/a	chr12:124246572-124246585

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124246525-124246575	CMK	blood:	n/a
2	chr12:124246525-124246575	Jurkat	blood:	n/a
3	chr12:124246525-124246575	RPTEC	kidney:	n/a
4	chr12:124246525-124246575	SAEC	small airway:	n/a
5	chr12:124246525-124246575	LNCaP	prostate:	n/a
6	chr12:124246525-124246575	HMEC	breast:	n/a
7	chr12:124246525-124246575	HRPEpiC	eye:	n/a
8	chr12:124246525-124246575	IMR90	lung:	fetal
9	chr12:124246525-124246575	HRCEpiC	kidney:	n/a
10	chr12:124246525-124246575	SK-N-SH	brain:	n/a
11	chr12:124246525-124246575	HAEpiC	amniotic membrane:	n/a
12	chr12:124246525-124246575	ovcar-3	ovarian:	n/a
13	chr12:124246525-124246575	HNPCEpiC	eye:	n/a
14	chr12:124246525-124246575	GM19239	blood:	n/a
15	chr12:124246525-124246575	NHBE	bronchial:	n/a
16	chr12:124246525-124246575	NHDF-neo	bronchial:	n/a
17	chr12:124246525-124246575	AG10803	skin:	n/a
18	chr12:124246525-124246575	T-47D	breast:	n/a
19	chr12:124246525-124246575	HUVEC	blood vessel:	n/a
20	chr12:124246525-124246575	H1-hESC	embryonic stem cell:	embryo
21	chr12:124246525-124246575	GM12891	blood:	n/a
22	chr12:124246525-124246575	SK-N-MC	brain:	n/a
23	chr12:124246525-124246575	HCT-116	colon:	n/a
24	chr12:124246525-124246575	U87	brain:	n/a
25	chr12:124246525-124246575	BJ	skin:	n/a
26	chr12:124246525-124246575	PrEC	prostate:	n/a
27	chr12:124246525-124246575	HCM	heart:	n/a
28	chr12:124246525-124246575	GM12878	blood:	n/a
29	chr12:124246525-124246575	MCF-7	breast:	n/a
30	chr12:124246525-124246575	ECC-1	luminal epithelium:	n/a
31	chr12:124246525-124246575	AG04449	skin:	fetal
32	chr12:124246525-124246575	NH-A	brain:	n/a
33	chr12:124246525-124246575	AG09309	skin:	n/a
34	chr12:124246525-124246575	HL-60	blood:	n/a
35	chr12:124246525-124246575	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:124246525-124246575	PANC-1	pancreas:	n/a
37	chr12:124246525-124246575	ProgFib	skin:	n/a
38	chr12:124246525-124246575	A549	lung:	n/a
39	chr12:124246525-124246575	AG04450	lung:	fetal
40	chr12:124246525-124246575	HEK293	kidney:	embryo
41	chr12:124246525-124246575	NT2-D1	testis:	n/a
42	chr12:124246525-124246575	K562	blood:	n/a
43	chr12:124246525-124246575	HCF	heart:	n/a
44	chr12:124246525-124246575	HCPEpiC	choroid plexus:	n/a
45	chr12:124246525-124246575	SK-N-SH_RA	brain:	n/a
46	chr12:124246525-124246575	HIPEpiC	eye:	n/a
47	chr12:124246525-124246575	Hepatocyte	liver:	n/a
48	chr12:124246525-124246575	GM06990	blood:	n/a
49	chr12:124246525-124246575	GM12892	blood:	n/a
50	chr12:124246525-124246575	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124238409..124242727-chr12:124245328..124248805,4	MCF-7	breast:
2	chr12:124239074..124241226-chr12:124246281..124247802,2	K562	blood:

Variant related genes	Relation type
DNAH10	TF binding region
DNAH10	CpG island
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3389445	chr12:124245999-124247847	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124203800-124248000	Strong transcription	Dnd41	blood
3	chr12:124234200-124247400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:124239800-124246800	Weak transcription	Brain Angular Gyrus	brain
5	chr12:124239800-124247200	Weak transcription	HSMM	muscle
6	chr12:124239800-124249400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:124239800-124252000	Weak transcription	K562	blood
8	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
9	chr12:124245800-124246600	Enhancers	Fetal Heart	heart
10	chr12:124245800-124247800	Bivalent Enhancer	Fetal Brain Male	brain
11	chr12:124245800-124248000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:124246000-124246600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr12:124246000-124246600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr12:124246000-124246600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:124246000-124246600	Flanking Active TSS	GM12878-XiMat	blood
16	chr12:124246000-124247200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:124246000-124247400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:124246000-124247600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:124246000-124247600	Active TSS	Rectal Smooth Muscle	rectum
20	chr12:124246200-124246600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:124246200-124246600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:124246200-124246600	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr12:124246200-124246600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr12:124246200-124246600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:124246200-124246600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:124246200-124246600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr12:124246200-124246600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:124246200-124246600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr12:124246200-124246600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr12:124246200-124246600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
31	chr12:124246200-124246600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr12:124246200-124246600	Flanking Active TSS	Fetal Thymus	thymus
33	chr12:124246200-124246600	Enhancers	A549	lung
34	chr12:124246200-124246600	Flanking Active TSS	NHEK	skin
35	chr12:124246200-124246800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:124246200-124247000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr12:124246200-124247000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:124246200-124247000	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr12:124246200-124247000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:124246200-124247000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:124246200-124247000	Active TSS	Brain Hippocampus Middle	brain
42	chr12:124246200-124247000	Bivalent/Poised TSS	Fetal Lung	lung
43	chr12:124246200-124247000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:124246200-124247000	Active TSS	Thymus	Thymus
45	chr12:124246200-124247000	Active TSS	NH-A	brain
46	chr12:124246200-124247000	Active TSS	NHLF	lung
47	chr12:124246200-124247000	Active TSS	Osteobl	bone
48	chr12:124246200-124247200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:124246200-124247200	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr12:124246200-124247200	Active TSS	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links