Variant report

Variant	rs562111226
Chromosome Location	chr12:63329170-63329171
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	SP1	chr12:63328576-63329322	A549	lung:	n/a	chr12:63329029-63329038 chr12:63328827-63328836 chr12:63328825-63328837 chr12:63328826-63328835 chr12:63328977-63328989 chr12:63328978-63328987 chr12:63328826-63328835 chr12:63328977-63328989 chr12:63328979-63328988 chr12:63329028-63329039 chr12:63328826-63328840
2	CTCF	chr12:63329060-63329210	NHLF	lung:	n/a	n/a
3	CTCF	chr12:63329020-63329170	BE2_C	brain:	n/a	n/a
4	ARID3A	chr12:63328780-63329249	HepG2	liver:	n/a	n/a
5	MYC	chr12:63328937-63329190	K562	blood:	n/a	n/a
6	TBP	chr12:63328858-63329274	Hela-S3	cervix:	n/a	n/a
7	MAX	chr12:63328163-63329320	Hela-S3	cervix:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63328924-63328933
8	POLR2A	chr12:63328604-63329224	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr12:63328870-63329196	HepG2	liver:	n/a	n/a
10	CTCF	chr12:63328901-63329186	Fibrobl	skin:	n/a	n/a
11	NR2F2	chr12:63328609-63329336	K562	blood:	n/a	n/a
12	SP1	chr12:63328860-63329348	H1-hESC	embryonic stem cell:	n/a	chr12:63329029-63329038 chr12:63328977-63328989 chr12:63328978-63328987 chr12:63328977-63328989 chr12:63328979-63328988 chr12:63329028-63329039
13	CTCF	chr12:63328840-63329226	MCF-7	breast:	n/a	n/a
14	CREB1	chr12:63328185-63329187	A549	lung:	n/a	n/a
15	POLR2A	chr12:63328624-63329307	HCT-116	colon:	n/a	n/a
16	CTCF	chr12:63328867-63329198	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr12:63328673-63329304	HepG2	liver:	n/a	chr12:63328829-63328839 chr12:63328803-63328817
18	RCOR1	chr12:63328731-63329443	Hela-S3	cervix:	n/a	n/a
19	MYC	chr12:63328659-63329281	MCF-7	breast:	n/a	chr12:63328681-63328691 chr12:63328924-63328933
20	USF1	chr12:63328664-63329353	K562	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328885-63328901
21	RAD21	chr12:63328697-63329253	HepG2	liver:	n/a	chr12:63328829-63328839 chr12:63328803-63328817
22	TBP	chr12:63328246-63329183	K562	blood:	n/a	n/a
23	USF1	chr12:63328687-63329392	A549	lung:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
24	ZEB1	chr12:63326895-63329453	HepG2	liver:	n/a	chr12:63329095-63329107 chr12:63329096-63329107
25	USF1	chr12:63328787-63329280	HepG2	liver:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
26	CTCF	chr12:63328905-63329174	ProgFib	skin:	n/a	n/a
27	TBP	chr12:63328733-63329295	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMC3	chr12:63328816-63329254	HepG2	liver:	n/a	chr12:63328829-63328839
29	ZEB1	chr12:63328896-63329205	GM12878	blood:	n/a	chr12:63329095-63329107 chr12:63329096-63329107
30	MAX	chr12:63327017-63329477	A549	lung:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
31	POLR2A	chr12:63327949-63329244	MCF-7	breast:	n/a	n/a
32	HCFC1	chr12:63328666-63329201	K562	blood:	n/a	n/a
33	HA-E2F1	chr12:63326823-63329443	MCF-7	breast:	n/a	chr12:63327280-63327287 chr12:63328820-63328835 chr12:63328824-63328836 chr12:63328892-63328902 chr12:63328827-63328836 chr12:63328554-63328563
34	USF1	chr12:63328723-63329392	K562	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
35	JUND	chr12:63328819-63329293	H1-hESC	embryonic stem cell:	n/a	n/a
36	CBX3	chr12:63328676-63329433	HCT-116	colon:	n/a	n/a
37	BRCA1	chr12:63328926-63329271	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3AK20	chr12:63328235-63329238	PANC-1	pancreas:	n/a	n/a
39	RCOR1	chr12:63328739-63329268	HepG2	liver:	n/a	n/a
40	MAX	chr12:63328595-63329321	HepG2	liver:	n/a	chr12:63328681-63328691 chr12:63328924-63328933
41	CTCF	chr12:63329020-63329170	A549	lung:	n/a	n/a
42	FOXA1	chr12:63328696-63329495	HepG2	liver:	n/a	n/a
43	RAD21	chr12:63328702-63329189	K562	blood:	n/a	chr12:63328829-63328839 chr12:63328803-63328817
44	CTCF	chr12:63328796-63329270	K562	blood:	n/a	n/a
45	TCF12	chr12:63328816-63329234	HepG2	liver:	n/a	n/a
46	CTBP2	chr12:63328080-63329265	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr12:63328709-63329222	K562	blood:	n/a	n/a
48	YY1	chr12:63328763-63329215	HCT-116	colon:	n/a	chr12:63328827-63328836 chr12:63329061-63329070
49	ZNF143	chr12:63328818-63329270	K562	blood:	n/a	n/a
50	CTCF	chr12:63328756-63329228	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:63325863..63329962-chr12:63356030..63360907,6	MCF-7	breast:
2	chr12:63327630..63329589-chr12:63447421..63451204,3	MCF-7	breast:
3	chr12:62996812..62998536-chr12:63327281..63329321,2	MCF-7	breast:

Variant related genes	Relation type
PPM1H	TF binding region
ENSG00000252660	TF binding region
ENSG00000221949	Chromatin interaction
ENSG00000257664	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000139239	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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv3355722	chr12:63327210-63330258	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3378901	chr12:63327535-63330133	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63326400-63329200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:63326400-63329400	Active TSS	Brain Angular Gyrus	brain
3	chr12:63326600-63329200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:63326600-63330000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:63326800-63329400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:63326800-63329400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:63326800-63329400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:63326800-63329400	Active TSS	Psoas Muscle	Psoas
9	chr12:63326800-63329400	Active TSS	Right Ventricle	heart
10	chr12:63326800-63329400	Active TSS	Stomach Mucosa	stomach
11	chr12:63326800-63329600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:63327000-63329200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:63327000-63329200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:63327000-63329200	Active TSS	Aorta	Aorta
15	chr12:63327000-63329200	Active TSS	Brain Anterior Caudate	brain
16	chr12:63327000-63329200	Active TSS	Osteobl	bone
17	chr12:63327000-63329400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:63327000-63329400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:63327000-63329400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:63327000-63329400	Active TSS	Gastric	stomach
21	chr12:63327000-63329400	Active TSS	Left Ventricle	heart
22	chr12:63327000-63329600	Active TSS	Brain Hippocampus Middle	brain
23	chr12:63327000-63329600	Active TSS	Fetal Kidney	kidney
24	chr12:63327200-63329200	Active TSS	Colon Smooth Muscle	Colon
25	chr12:63327200-63329200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr12:63327200-63329400	Active TSS	Brain Cingulate Gyrus	brain
27	chr12:63327200-63329400	Active TSS	Brain Substantia Nigra	brain
28	chr12:63327200-63329400	Active TSS	Ovary	ovary
29	chr12:63327200-63329400	Active TSS	Pancreas	Pancrea
30	chr12:63327400-63329200	Active TSS	Lung	lung
31	chr12:63327400-63329200	Active TSS	A549	lung
32	chr12:63327400-63329200	Active TSS	K562	blood
33	chr12:63327400-63329400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:63327400-63329400	Active TSS	Fetal Heart	heart
35	chr12:63327400-63329400	Active TSS	HSMMtube	muscle
36	chr12:63327600-63329200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:63327600-63329400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:63327800-63329200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr12:63327800-63329200	Active TSS	Hela-S3	cervix
40	chr12:63327800-63329200	Active TSS	NHDF-Ad	bronchial
41	chr12:63327800-63329200	Active TSS	NHLF	lung
42	chr12:63327800-63329400	Active TSS	Fetal Intestine Small	intestine
43	chr12:63327800-63329400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:63327800-63329600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:63328000-63329200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:63328000-63329200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr12:63328000-63329200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr12:63328000-63329200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:63328000-63329400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:63328000-63329400	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