Variant report

Variant	rs534232696
Chromosome Location	chr12:31742396-31742397
allele	A/G
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	POLR2A	chr12:31742347-31744772	IMR90	lung:	n/a	n/a
2	NFIC	chr12:31742169-31743119	GM12878	blood:	n/a	n/a
3	TCF12	chr12:31742282-31743751	A549	lung:	n/a	n/a
4	PML	chr12:31742339-31743760	GM12878	blood:	n/a	chr12:31743309-31743318
5	ATF2	chr12:31742352-31742873	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:31737848-31743421	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:31742164-31743126	Hela-S3	cervix:	n/a	chr12:31742272-31742283
8	REST	chr12:31742245-31744985	H1-neurons	neurons:	n/a	chr12:31742853-31742866 chr12:31742978-31742988 chr12:31743585-31743592
9	JUND	chr12:31742394-31743644	K562	blood:	n/a	chr12:31743310-31743320 chr12:31743312-31743323 chr12:31743311-31743320 chr12:31743310-31743319 chr12:31743112-31743121 chr12:31743309-31743321 chr12:31743565-31743574
10	POLR2A	chr12:31742380-31744360	MCF10A-Er-Src	breast:	n/a	n/a
11	MAZ	chr12:31742339-31745036	IMR90	lung:	n/a	chr12:31744239-31744248
12	RFX5	chr12:31741983-31743249	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
2	chr12:31477472..31480749-chr12:31741860..31744200,4	MCF-7	breast:
3	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:

Variant related genes	Relation type
DENND5B-AS1	TF binding region
ENSG00000231788	Chromatin interaction
ENSG00000252390	Chromatin interaction
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3371967	chr12:31741685-31745983	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31721600-31742400	Weak transcription	Aorta	Aorta
2	chr12:31738400-31742400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:31738400-31742600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:31738400-31742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:31738400-31742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:31738400-31742600	Weak transcription	Lung	lung
7	chr12:31738600-31742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:31738600-31742400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:31738600-31742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:31738800-31742600	Weak transcription	Small Intestine	intestine
11	chr12:31739000-31742400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:31739400-31742400	Enhancers	Stomach Mucosa	stomach
13	chr12:31740000-31742600	Weak transcription	Gastric	stomach
14	chr12:31741000-31742400	Enhancers	Brain Substantia Nigra	brain
15	chr12:31741200-31742600	Weak transcription	Pancreas	Pancrea
16	chr12:31741400-31742400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:31741400-31742400	Flanking Active TSS	A549	lung
18	chr12:31741400-31742600	Weak transcription	Left Ventricle	heart
19	chr12:31741400-31742600	Weak transcription	Spleen	Spleen
20	chr12:31741400-31745000	Active TSS	Ovary	ovary
21	chr12:31741600-31742400	Enhancers	Fetal Muscle Leg	muscle
22	chr12:31741600-31742400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:31741600-31742400	Flanking Active TSS	Hela-S3	cervix
24	chr12:31741600-31744200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:31741600-31744800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:31741600-31745000	Active TSS	Fetal Kidney	kidney
27	chr12:31741800-31742400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr12:31741800-31742400	Weak transcription	Psoas Muscle	Psoas
29	chr12:31741800-31742600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:31741800-31742600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:31741800-31742600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr12:31741800-31742800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:31741800-31742800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:31741800-31743000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:31741800-31743600	Active TSS	Right Atrium	heart
36	chr12:31741800-31744400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:31741800-31744400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:31741800-31744400	Active TSS	GM12878-XiMat	blood
39	chr12:31741800-31744800	Active TSS	Brain Cingulate Gyrus	brain
40	chr12:31741800-31745000	Active TSS	Rectal Smooth Muscle	rectum
41	chr12:31742000-31742400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr12:31742000-31742400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr12:31742000-31742400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:31742000-31742400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:31742000-31742400	Flanking Active TSS	Fetal Lung	lung
46	chr12:31742000-31742400	Enhancers	Fetal Stomach	stomach
47	chr12:31742000-31742400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr12:31742000-31742600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:31742000-31742600	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr12:31742000-31742600	Flanking Active TSS	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links