Variant report

Variant	rs568872997
Chromosome Location	chr12:82832286-82832287
allele	G/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	ATF2	chr12:82832115-82832546	GM12878	blood:	n/a	n/a
2	CREB1	chr12:82832106-82832606	GM12878	blood:	n/a	n/a
3	CUX1	chr12:82832046-82832474	GM12878	blood:	n/a	chr12:82832241-82832255
4	MYC	chr12:82832237-82832537	MCF10A-Er-Src	breast:	n/a	n/a
5	BATF	chr12:82832164-82832441	GM12878	blood:	n/a	n/a
6	JUND	chr12:82832071-82832619	GM12878	blood:	n/a	chr12:82832304-82832316
7	EP300	chr12:82832185-82832526	GM12878	blood:	n/a	chr12:82832442-82832456 chr12:82832288-82832302 chr12:82832447-82832461 chr12:82832292-82832306
8	NFATC1	chr12:82832073-82832620	GM12878	blood:	n/a	n/a
9	EBF1	chr12:82832079-82832460	GM12878	blood:	n/a	n/a
10	BCL11A	chr12:82832196-82832545	GM12878	blood:	n/a	n/a
11	BATF	chr12:82832252-82832436	GM12878	blood:	n/a	n/a
12	STAT3	chr12:82832197-82832472	MCF10A-Er-Src	breast:	n/a	chr12:82832286-82832297
13	NFIC	chr12:82832010-82832600	GM12878	blood:	n/a	n/a
14	NFATC1	chr12:82832023-82832578	GM12878	blood:	n/a	n/a
15	FOS	chr12:82832226-82832523	MCF10A-Er-Src	breast:	n/a	chr12:82832304-82832316
16	FOS	chr12:82832217-82832558	MCF10A-Er-Src	breast:	n/a	chr12:82832304-82832316
17	MEF2A	chr12:82832121-82832541	GM12878	blood:	n/a	chr12:82832145-82832153
18	MEF2A	chr12:82832078-82832620	GM12878	blood:	n/a	chr12:82832145-82832153
19	MEF2C	chr12:82832117-82832624	GM12878	blood:	n/a	chr12:82832145-82832153
20	FOXM1	chr12:82832096-82832597	GM12878	blood:	n/a	n/a
21	ZNF384	chr12:82832032-82832634	GM12878	blood:	n/a	n/a
22	CREB1	chr12:82832269-82832541	GM12878	blood:	n/a	n/a
23	STAT3	chr12:82832248-82832470	MCF10A-Er-Src	breast:	n/a	chr12:82832286-82832297
24	RUNX3	chr12:82832061-82832589	GM12878	blood:	n/a	n/a
25	ATF2	chr12:82832100-82832603	GM12878	blood:	n/a	n/a
26	FOS	chr12:82832218-82832515	MCF10A-Er-Src	breast:	n/a	chr12:82832304-82832316
27	EP300	chr12:82832135-82832509	GM12878	blood:	n/a	chr12:82832442-82832456 chr12:82832288-82832302 chr12:82832447-82832461 chr12:82832292-82832306
28	FOS	chr12:82832221-82832574	MCF10A-Er-Src	breast:	n/a	chr12:82832304-82832316
29	STAT5A	chr12:82832194-82832509	GM12878	blood:	n/a	chr12:82832286-82832297
30	STAT3	chr12:82832214-82832466	MCF10A-Er-Src	breast:	n/a	chr12:82832286-82832297
31	STAT3	chr12:82832234-82832505	MCF10A-Er-Src	breast:	n/a	chr12:82832286-82832297

Variant related genes	Relation type
METTL25	TF binding region

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	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841396	chr12:82768717-82881082	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv519197	chr12:82831845-83056476	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82758400-82835600	Weak transcription	Psoas Muscle	Psoas
2	chr12:82783000-82838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:82789200-82833800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:82791200-82852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:82793400-82834400	Weak transcription	Liver	Liver
6	chr12:82793600-82833000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:82793600-82833200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:82802200-82834400	Weak transcription	Aorta	Aorta
9	chr12:82802200-82834400	Weak transcription	Ovary	ovary
10	chr12:82803600-82852000	Weak transcription	Left Ventricle	heart
11	chr12:82804600-82869400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:82809600-82834400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:82819600-82833400	Weak transcription	Primary T cells from cord blood	blood
14	chr12:82819600-82835600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:82821000-82836200	Weak transcription	Fetal Heart	heart
16	chr12:82821200-82836800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:82822400-82862000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:82822800-82835600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:82823000-82852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:82823000-82862200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:82823200-82834400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:82823200-82868000	Weak transcription	Brain Angular Gyrus	brain
23	chr12:82824200-82850000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:82824200-82868200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:82825000-82833600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:82825200-82851400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:82825400-82833000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:82825600-82833400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:82826000-82835600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:82826400-82843000	Weak transcription	Brain Substantia Nigra	brain
31	chr12:82826400-82844400	Weak transcription	Fetal Kidney	kidney
32	chr12:82827000-82834000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:82827200-82862200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:82827400-82837600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:82828400-82835800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:82828600-82835800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:82828600-82852200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:82828800-82834400	Weak transcription	Brain Anterior Caudate	brain
39	chr12:82829000-82835600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:82829600-82836200	Weak transcription	HSMMtube	muscle
41	chr12:82830000-82836200	Weak transcription	Fetal Lung	lung
42	chr12:82830000-82836800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:82830200-82836800	Weak transcription	HSMM	muscle
44	chr12:82831400-82862200	Weak transcription	Pancreas	Pancrea
45	chr12:82831800-82841200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:82832000-82832600	Enhancers	NHEK	skin
47	chr12:82832000-82834400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:82832000-82837000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:82832000-82840000	Strong transcription	Adipose Nuclei	Adipose
50	chr12:82832000-82862400	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links