Variant report

Variant	rs556994013
Chromosome Location	chr12:123757417-123757418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123757413-123757463	HIPEpiC	eye:	n/a
2	chr12:123757413-123757463	SK-N-SH	brain:	n/a
3	chr12:123757413-123757463	T-47D	breast:	n/a
4	chr12:123757413-123757463	IMR90	lung:	fetal
5	chr12:123757413-123757463	GM19239	blood:	n/a
6	chr12:123757413-123757463	ProgFib	skin:	n/a
7	chr12:123757413-123757463	NH-A	brain:	n/a
8	chr12:123757413-123757463	BE2_C	brain:	n/a
9	chr12:123757413-123757463	Hela-S3	cervix:	n/a
10	chr12:123757413-123757463	Hepatocyte	liver:	n/a
11	chr12:123757413-123757463	HCPEpiC	choroid plexus:	n/a
12	chr12:123757413-123757463	NHDF-neo	bronchial:	n/a
13	chr12:123757413-123757463	HPAEpiC	pulmonary alveolar:	n/a
14	chr12:123757413-123757463	SK-N-MC	brain:	n/a
15	chr12:123757413-123757463	K562	blood:	n/a
16	chr12:123757413-123757463	ECC-1	luminal epithelium:	n/a
17	chr12:123757413-123757463	HUVEC	blood vessel:	n/a
18	chr12:123757413-123757463	BJ	skin:	n/a
19	chr12:123757413-123757463	AoSMC	blood vessel:	n/a
20	chr12:123757413-123757463	LNCaP	prostate:	n/a
21	chr12:123757413-123757463	GM06990	blood:	n/a
22	chr12:123757413-123757463	HCM	heart:	n/a
23	chr12:123757413-123757463	HEEpiC	esophagus:	n/a
24	chr12:123757413-123757463	AG09309	skin:	n/a
25	chr12:123757413-123757463	SAEC	small airway:	n/a
26	chr12:123757413-123757463	HRPEpiC	eye:	n/a
27	chr12:123757413-123757463	NB4	blood:	n/a
28	chr12:123757413-123757463	HL-60	blood:	n/a
29	chr12:123757413-123757463	ovcar-3	ovarian:	n/a
30	chr12:123757413-123757463	A549	lung:	n/a
31	chr12:123757413-123757463	GM12878	blood:	n/a
32	chr12:123757413-123757463	HepG2	liver:	n/a
33	chr12:123757413-123757463	SKMC	muscle:	n/a
34	chr12:123757413-123757463	Caco-2	colon:	n/a
35	chr12:123757413-123757463	NT2-D1	testis:	n/a
36	chr12:123757413-123757463	AG04449	skin:	fetal
37	chr12:123757413-123757463	HMEC	breast:	n/a
38	chr12:123757413-123757463	HRCEpiC	kidney:	n/a
39	chr12:123757413-123757463	PANC-1	pancreas:	n/a
40	chr12:123757413-123757463	H1-hESC	embryonic stem cell:	embryo
41	chr12:123757413-123757463	HRE	kidney:	n/a
42	chr12:123757413-123757463	HCF	heart:	n/a
43	chr12:123757413-123757463	HAEpiC	amniotic membrane:	n/a
44	chr12:123757413-123757463	NHBE	bronchial:	n/a
45	chr12:123757413-123757463	AG10803	skin:	n/a
46	chr12:123757413-123757463	AG09319	gingival:	n/a
47	chr12:123757413-123757463	PrEC	prostate:	n/a
48	chr12:123757413-123757463	HCT-116	colon:	n/a
49	chr12:123757413-123757463	SK-N-SH_RA	brain:	n/a
50	chr12:123757413-123757463	HNPCEpiC	eye:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123755747..123757789-chr12:123941373..123943090,2	K562	blood:
2	chr1:115299292..115301809-chr12:123754705..123757686,2	MCF-7	breast:
3	chr12:123755058..123757440-chr12:124084744..124087456,3	K562	blood:
4	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:
5	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
6	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
7	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
8	chr12:123756249..123757789-chr12:123941373..123944326,2	K562	blood:
9	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
10	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
11	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
12	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
13	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
14	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
15	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
16	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
17	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:

No data

Variant related genes	Relation type
CDK2AP1	CpG island
ENSG00000111358	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000111364	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:123756600-123757600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:123756800-123757600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:123756800-123757600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:123756800-123757600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:123756800-123757600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:123756800-123757600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr12:123756800-123758000	Enhancers	Spleen	Spleen
9	chr12:123756800-123758200	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr12:123756800-123758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:123757000-123757600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:123757000-123757600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:123757000-123757800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:123757200-123757600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:123757200-123757600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:123757200-123757600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:123757200-123757600	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:123757200-123757600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:123757200-123757600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:123757200-123757600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:123757200-123757600	Enhancers	Brain Anterior Caudate	brain
22	chr12:123757200-123757600	Enhancers	Fetal Intestine Small	intestine
23	chr12:123757200-123757600	Enhancers	Fetal Lung	lung
24	chr12:123757200-123757600	Enhancers	Fetal Muscle Trunk	muscle
25	chr12:123757200-123757600	Enhancers	Fetal Muscle Leg	muscle
26	chr12:123757200-123757600	Enhancers	Fetal Thymus	thymus
27	chr12:123757200-123757600	Enhancers	Right Ventricle	heart
28	chr12:123757200-123757600	Active TSS	Stomach Smooth Muscle	stomach
29	chr12:123757200-123757600	Enhancers	Dnd41	blood
30	chr12:123757200-123757600	Enhancers	NHLF	lung
31	chr12:123757200-123757800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:123757200-123758000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:123757200-123758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:123757200-123758000	Enhancers	Fetal Stomach	stomach
35	chr12:123757200-123759200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:123757200-123761800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:123757200-123762400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:123757200-123762600	Weak transcription	GM12878-XiMat	blood
39	chr12:123757200-123773800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:123757200-123774000	Weak transcription	K562	blood
41	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
42	chr12:123757400-123757600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:123757400-123757600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:123757400-123757600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:123757400-123757600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:123757400-123757600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:123757400-123757600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:123757400-123757600	Active TSS	Fetal Brain Female	brain
49	chr12:123757400-123757600	Enhancers	Rectal Smooth Muscle	rectum
50	chr12:123757400-123757600	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links