Variant report

Variant	rs562485915
Chromosome Location	chr12:50898255-50898256
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	RAD21	chr12:50898232-50899903	HCT-116	colon:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
2	RAD21	chr12:50898249-50899846	HCT-116	colon:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
3	CTCF	chr12:50898172-50899934	A549	lung:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
4	RAD21	chr12:50898171-50900817	SK-N-SH	brain:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
5	MAZ	chr12:50898236-50899606	IMR90	lung:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
6	TCF12	chr12:50898222-50899909	A549	lung:	n/a	n/a
7	MAX	chr12:50898233-50899751	A549	lung:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
8	ZBTB7A	chr12:50898225-50899643	ECC-1	luminal epithelium:	n/a	chr12:50899285-50899299
9	RAD21	chr12:50898253-50899383	ECC-1	luminal epithelium:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
10	CTCF	chr12:50898244-50899864	SK-N-SH	brain:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
11	HCFC1	chr12:50898152-50901491	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr12:50898252-50899799	MCF-7	breast:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50898249-50898299	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:50898249-50898299	SK-N-SH	brain:	n/a
3	chr12:50898249-50898299	MCF10A-Er-Src	breast:	n/a
4	chr12:50898249-50898299	LNCaP	prostate:	n/a
5	chr12:50898249-50898299	ECC-1	luminal epithelium:	n/a
6	chr12:50898249-50898299	SKMC	muscle:	n/a
7	chr12:50898249-50898299	HRE	kidney:	n/a
8	chr12:50898249-50898299	Jurkat	blood:	n/a
9	chr12:50898249-50898299	Caco-2	colon:	n/a
10	chr12:50898249-50898299	NB4	blood:	n/a
11	chr12:50898249-50898299	PFSK-1	brain:	n/a
12	chr12:50898249-50898299	AG10803	skin:	n/a
13	chr12:50898249-50898299	NHDF-neo	bronchial:	n/a
14	chr12:50898249-50898299	A549	lung:	n/a
15	chr12:50898249-50898299	T-47D	breast:	n/a
16	chr12:50898249-50898299	NH-A	brain:	n/a
17	chr12:50898249-50898299	AoSMC	blood vessel:	n/a
18	chr12:50898249-50898299	HEEpiC	esophagus:	n/a
19	chr12:50898249-50898299	HMEC	breast:	n/a
20	chr12:50898249-50898299	MCF-7	breast:	n/a
21	chr12:50898249-50898299	HUVEC	blood vessel:	n/a
22	chr12:50898249-50898299	GM19239	blood:	n/a
23	chr12:50898249-50898299	PANC-1	pancreas:	n/a
24	chr12:50898249-50898299	AG04449	skin:	fetal
25	chr12:50898249-50898299	Hepatocyte	liver:	n/a
26	chr12:50898249-50898299	HRPEpiC	eye:	n/a
27	chr12:50898249-50898299	H1-hESC	embryonic stem cell:	embryo
28	chr12:50898249-50898299	BE2_C	brain:	n/a
29	chr12:50898249-50898299	HCF	heart:	n/a
30	chr12:50898249-50898299	HIPEpiC	eye:	n/a
31	chr12:50898249-50898299	SK-N-MC	brain:	n/a
32	chr12:50898249-50898299	AG09309	skin:	n/a
33	chr12:50898249-50898299	SK-N-SH_RA	brain:	n/a
34	chr12:50898249-50898299	HCT-116	colon:	n/a
35	chr12:50898249-50898299	Hela-S3	cervix:	n/a
36	chr12:50898249-50898299	RPTEC	kidney:	n/a
37	chr12:50898249-50898299	IMR90	lung:	fetal
38	chr12:50898249-50898299	GM06990	blood:	n/a
39	chr12:50898249-50898299	HCM	heart:	n/a
40	chr12:50898249-50898299	GM12892	blood:	n/a
41	chr12:50898249-50898299	AG04450	lung:	fetal
42	chr12:50898249-50898299	ProgFib	skin:	n/a
43	chr12:50898249-50898299	NT2-D1	testis:	n/a
44	chr12:50898249-50898299	NHBE	bronchial:	n/a
45	chr12:50898249-50898299	HCPEpiC	choroid plexus:	n/a
46	chr12:50898249-50898299	BJ	skin:	n/a
47	chr12:50898249-50898299	AG09319	gingival:	n/a
48	chr12:50898249-50898299	HEK293	kidney:	embryo
49	chr12:50898249-50898299	HRCEpiC	kidney:	n/a
50	chr12:50898249-50898299	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50897670..50898564-chr12:51035467..51036002,2	K562	blood:
2	chr12:50897008..50898547-chr12:50959691..50961906,2	MCF-7	breast:
3	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:
4	chr12:50897525..50900115-chr12:51025935..51031272,7	MCF-7	breast:
5	chr12:50897096..50898748-chr12:51035347..51039565,3	MCF-7	breast:
6	chr12:50897880..50899909-chr12:51417990..51420226,2	MCF-7	breast:

Variant related genes	Relation type
DIP2B	TF binding region
DIP2B	CpG island
ENSG00000110911	Chromatin interaction
ENSG00000207136	Chromatin interaction
ENSG00000123268	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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3395665	chr12:50897710-50900258	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50898000-50898600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:50898200-50898400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:50898200-50898400	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:50898200-50898400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:50898200-50898400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:50898200-50898400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:50898200-50898400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:50898200-50898400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:50898200-50898400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:50898200-50898400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:50898200-50898400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:50898200-50898400	Enhancers	Adipose Nuclei	Adipose
13	chr12:50898200-50898400	Enhancers	Brain Cingulate Gyrus	brain
14	chr12:50898200-50898400	Enhancers	Brain Hippocampus Middle	brain
15	chr12:50898200-50898400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:50898200-50898400	Enhancers	Fetal Muscle Leg	muscle
17	chr12:50898200-50898400	Enhancers	Fetal Thymus	thymus
18	chr12:50898200-50898400	Enhancers	Pancreas	Pancrea
19	chr12:50898200-50898400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:50898200-50898400	Flanking Active TSS	HepG2	liver
21	chr12:50898200-50898600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:50898200-50898600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr12:50898200-50898600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:50898200-50898600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:50898200-50898600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr12:50898200-50898600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:50898200-50898600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr12:50898200-50898600	Flanking Active TSS	A549	lung
29	chr12:50898200-50898600	Flanking Active TSS	Dnd41	blood
30	chr12:50898200-50898600	Flanking Active TSS	NHEK	skin
31	chr12:50898200-50898800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:50898200-50898800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:50898200-50899000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:50898200-50899000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:50898200-50899000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:50898200-50899400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:50898200-50899400	Active TSS	Primary hematopoietic stem cells	blood
38	chr12:50898200-50899400	Active TSS	Hela-S3	cervix
39	chr12:50898200-50899400	Active TSS	HUVEC	blood vessel
40	chr12:50898200-50899600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:50898200-50899600	Active TSS	Duodenum Mucosa	Duodenum
42	chr12:50898200-50899600	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:50898200-50899800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:50898200-50899800	Active TSS	Fetal Stomach	stomach
45	chr12:50898200-50899800	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr12:50898200-50899800	Active TSS	Osteobl	bone
47	chr12:50898200-50900000	Active TSS	Colonic Mucosa	Colon
48	chr12:50898200-50900000	Active TSS	Fetal Intestine Small	intestine
49	chr12:50898200-50900200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:50898200-50900400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links