Variant report

Variant	rs553033442
Chromosome Location	chr12:123755089-123755090
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	MYC	chr12:123754804-123756878	NB4	blood:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
2	MXI1	chr12:123753684-123757129	IMR90	lung:	n/a	chr12:123755352-123755361
3	POLR2A	chr12:123754236-123755597	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXA1	chr12:123754563-123755107	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:123754776-123755399	IMR90	lung:	n/a	n/a
6	HA-E2F1	chr12:123755036-123756765	Hela-S3	cervix:	n/a	chr12:123756365-123756375 chr12:123756315-123756324 chr12:123756346-123756356 chr12:123756619-123756629 chr12:123756343-123756353 chr12:123755967-123755977
7	MAX	chr12:123754784-123755587	K562	blood:	n/a	chr12:123755367-123755376
8	POLR2A	chr12:123754881-123755146	Hela-S3	cervix:	n/a	n/a
9	FOXA1	chr12:123754458-123755130	HepG2	liver:	n/a	n/a
10	TBP	chr12:123754513-123755121	HepG2	liver:	n/a	n/a
11	CHD1	chr12:123754296-123755530	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZBTB7A	chr12:123754960-123756191	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:123754929-123755563	K562	blood:	n/a	n/a
14	TAF1	chr12:123754899-123755572	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr12:123754955-123755229	SK-N-SH	brain:	n/a	n/a
16	MAX	chr12:123754937-123755539	NB4	blood:	n/a	chr12:123755367-123755376
17	POLR2A	chr12:123754858-123756691	GM15510	blood:	n/a	n/a
18	CHD1	chr12:123753598-123756147	IMR90	lung:	n/a	chr12:123754235-123754245
19	POLR2A	chr12:123754977-123755142	SK-N-SH	brain:	n/a	n/a
20	MXI1	chr12:123751836-123757238	SK-N-SH	brain:	n/a	chr12:123755352-123755361
21	WRNIP1	chr12:123754742-123755097	GM12878	blood:	n/a	n/a
22	ZBTB7A	chr12:123755077-123756720	K562	blood:	n/a	chr12:123756519-123756533
23	POLR2A	chr12:123754849-123755241	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:123754048-123755477	SK-N-MC	brain:	n/a	n/a
25	TAF1	chr12:123754884-123755105	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:123754798-123755433	U87	brain:	n/a	n/a
27	POLR2A	chr12:123754817-123756733	GM18951	blood:	n/a	n/a
28	MXI1	chr12:123754640-123755363	HepG2	liver:	n/a	chr12:123755352-123755361
29	MYBL2	chr12:123754506-123755138	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr12:123754836-123755233	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:123753844-123755161	H1-neurons	neurons:	n/a	n/a
32	MAX	chr12:123754550-123757110	A549	lung:	n/a	chr12:123756093-123756102 chr12:123755815-123755825 chr12:123755367-123755376
33	POLR2A	chr12:123754911-123755269	GM12878	blood:	n/a	n/a
34	MTA3	chr12:123754371-123755603	GM12878	blood:	n/a	n/a
35	MAZ	chr12:123754025-123755284	HepG2	liver:	n/a	chr12:123754155-123754164 chr12:123754240-123754250
36	POLR2A	chr12:123754837-123755308	ProgFib	skin:	n/a	n/a
37	MXI1	chr12:123754974-123755197	Hela-S3	cervix:	n/a	n/a
38	HEY1	chr12:123754975-123755224	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:123753773-123757018	HUVEC	blood vessel:	n/a	n/a
40	NFIC	chr12:123754623-123755097	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:123754629-123755299	HepG2	liver:	n/a	n/a
42	ELF1	chr12:123754916-123755505	GM12878	blood:	n/a	chr12:123755254-123755266 chr12:123755253-123755265
43	POLR2A	chr12:123753851-123755460	HepG2	liver:	n/a	n/a
44	MAX	chr12:123754708-123755533	ECC-1	luminal epithelium:	n/a	chr12:123755367-123755376
45	POLR2A	chr12:123754804-123755433	U87	brain:	n/a	n/a
46	POLR2A	chr12:123754822-123757189	K562	blood:	n/a	n/a
47	MAZ	chr12:123753736-123757280	IMR90	lung:	n/a	chr12:123756093-123756102 chr12:123754155-123754164 chr12:123755815-123755825 chr12:123755367-123755376 chr12:123754240-123754250
48	HDAC2	chr12:123754414-123755111	HepG2	liver:	n/a	chr12:123754503-123754517 chr12:123754799-123754808
49	SMARCB1	chr12:123754564-123756401	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr12:123754931-123755159	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123715831..123718104-chr12:123754466..123757204,4	MCF-7	breast:
2	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
3	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
4	chr1:115299292..115301809-chr12:123754705..123757686,2	MCF-7	breast:
5	chr12:123755058..123757440-chr12:124084744..124087456,3	K562	blood:
6	chr12:123737328..123740075-chr12:123754040..123756567,3	MCF-7	breast:
7	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
8	chr12:123717152..123717945-chr12:123754812..123755383,2	MCF-7	breast:
9	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
10	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
11	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
12	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
13	chr12:123753293..123755952-chr12:123766285..123768150,2	MCF-7	breast:
14	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
15	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
16	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
17	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
18	chr12:123463187..123465154-chr12:123754619..123756805,2	K562	blood:
19	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:
20	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
21	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
22	chr12:123754868..123756621-chr12:123942711..123944463,2	MCF-7	breast:
23	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
24	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
25	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

Variant related genes	Relation type
CDK2AP1	TF binding region
ENSG00000150967	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000111364	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv3371786	chr12:123753799-123757997	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	esv3506414	chr12:123754849-123757572	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	esv3506415	chr12:123754849-123757572	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	esv3441214	chr12:123755024-123757572	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123752000-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:123752200-123755200	Flanking Active TSS	Fetal Muscle Leg	muscle
3	chr12:123752200-123755600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:123752200-123755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:123752400-123755400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr12:123752400-123755600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr12:123752400-123755600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:123752600-123755400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr12:123752600-123755400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:123753000-123755600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:123753000-123756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:123753200-123755400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr12:123753400-123755400	Flanking Active TSS	Colonic Mucosa	Colon
14	chr12:123753400-123755600	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr12:123753600-123755200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:123753600-123755400	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr12:123753600-123755400	Flanking Active TSS	Fetal Thymus	thymus
18	chr12:123753600-123757200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:123753800-123755200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:123753800-123755400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:123753800-123755400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:123753800-123755600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr12:123753800-123755600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr12:123753800-123757000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:123753800-123757000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:123754000-123755400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr12:123754000-123755400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr12:123754000-123755400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr12:123754000-123755400	Flanking Active TSS	Placenta	Placenta
30	chr12:123754000-123755600	Active TSS	Fetal Kidney	kidney
31	chr12:123754000-123756600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:123754000-123756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:123754000-123756800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:123754000-123756800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:123754000-123756800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:123754000-123756800	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr12:123754000-123756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:123754000-123756800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:123754000-123756800	Active TSS	Brain Angular Gyrus	brain
41	chr12:123754000-123756800	Active TSS	Gastric	stomach
42	chr12:123754000-123757000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr12:123754000-123757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123754000-123757200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:123754000-123757200	Active TSS	Ovary	ovary
46	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:123754200-123755200	Flanking Active TSS	NHEK	skin
49	chr12:123754200-123755600	Active TSS	Fetal Lung	lung
50	chr12:123754200-123755600	Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links