Variant report

Variant	rs568854877
Chromosome Location	chr12:32551775-32551776
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	ZBTB7A	chr12:32551770-32553171	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr12:32551624-32553415	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr12:32551771-32553090	A549	lung:	n/a	chr12:32552166-32552173 chr12:32552936-32552943 chr12:32552871-32552881
4	TCF12	chr12:32551550-32553633	ECC-1	luminal epithelium:	n/a	chr12:32552166-32552173 chr12:32552936-32552943 chr12:32552871-32552881
5	SIN3A	chr12:32551710-32554057	H1-hESC	embryonic stem cell:	n/a	chr12:32552230-32552241 chr12:32552960-32552971 chr12:32552074-32552088 chr12:32552940-32552951
6	TAF1	chr12:32551759-32553487	ECC-1	luminal epithelium:	n/a	n/a
7	SMARCC1	chr12:32551696-32553126	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr12:32551667-32553200	IMR90	lung:	n/a	chr12:32552147-32552157
9	HA-E2F1	chr12:32551758-32553350	MCF-7	breast:	n/a	chr12:32552412-32552421 chr12:32553185-32553194 chr12:32552269-32552284 chr12:32552238-32552248 chr12:32552225-32552240
10	MAX	chr12:32551683-32553559	ECC-1	luminal epithelium:	n/a	chr12:32552147-32552157
11	KAP1	chr12:32551766-32553358	HEK293	kidney:	n/a	n/a
12	EP300	chr12:32551682-32553617	ECC-1	luminal epithelium:	n/a	chr12:32552145-32552154 chr12:32553159-32553173 chr12:32552657-32552673 chr12:32553041-32553054 chr12:32553236-32553245 chr12:32551843-32551857 chr12:32552131-32552147 chr12:32552230-32552246 chr12:32553157-32553171 chr12:32552958-32552974
13	NFIC	chr12:32551605-32553524	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr12:32551652-32553604	ECC-1	luminal epithelium:	n/a	chr12:32552147-32552157
15	ZBTB7A	chr12:32551657-32553312	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr12:32551644-32553680	ECC-1	luminal epithelium:	n/a	chr12:32552166-32552173 chr12:32552936-32552943 chr12:32552871-32552881
17	TEAD4	chr12:32551708-32553601	ECC-1	luminal epithelium:	n/a	n/a
18	FOXM1	chr12:32551695-32553425	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32550852..32553049-chr12:32831118..32832629,2	MCF-7	breast:
2	chr12:32551025..32552744-chr12:32831132..32833604,2	K562	blood:

Variant related genes	Relation type
ENSG00000207176	TF binding region
FGD4	TF binding region
ENSG00000087470	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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3324783	chr12:32551310-32553858	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3427823	chr12:32551585-32553583	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32544200-32551800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:32544400-32551800	Weak transcription	Ovary	ovary
3	chr12:32544400-32551800	Weak transcription	HUVEC	blood vessel
4	chr12:32550600-32551800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:32550600-32551800	Enhancers	Brain Cingulate Gyrus	brain
6	chr12:32550800-32551800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:32550800-32551800	Enhancers	Pancreas	Pancrea
8	chr12:32550800-32552200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:32551200-32551800	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:32551200-32551800	Enhancers	Fetal Intestine Small	intestine
11	chr12:32551200-32551800	Enhancers	Stomach Mucosa	stomach
12	chr12:32551200-32552000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:32551200-32552000	Enhancers	Esophagus	oesophagus
14	chr12:32551200-32554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:32551400-32551800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:32551400-32551800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:32551400-32551800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr12:32551400-32551800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:32551400-32551800	Enhancers	Brain Anterior Caudate	brain
20	chr12:32551400-32552000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:32551400-32552000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:32551600-32551800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:32551600-32551800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:32551600-32551800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:32551600-32551800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr12:32551600-32551800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:32551600-32551800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:32551600-32551800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:32551600-32551800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr12:32551600-32551800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr12:32551600-32551800	Active TSS	Primary hematopoietic stem cells	blood
32	chr12:32551600-32551800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:32551600-32551800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:32551600-32551800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:32551600-32551800	Enhancers	Adipose Nuclei	Adipose
36	chr12:32551600-32551800	Enhancers	Liver	Liver
37	chr12:32551600-32551800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr12:32551600-32551800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr12:32551600-32551800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:32551600-32551800	Enhancers	Fetal Heart	heart
41	chr12:32551600-32551800	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr12:32551600-32551800	Enhancers	Placenta	Placenta
43	chr12:32551600-32551800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr12:32551600-32551800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:32551600-32551800	Enhancers	A549	lung
46	chr12:32551600-32551800	Enhancers	HMEC	breast
47	chr12:32551600-32551800	Enhancers	K562	blood
48	chr12:32551600-32551800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr12:32551600-32551800	Enhancers	NHEK	skin
50	chr12:32551600-32552000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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