Variant report

Variant	rs13064272
Chromosome Location	chr3:48957917-48957918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:48955445-48957924	SK-N-SH	brain:	n/a	n/a
2	HEY1	chr3:48957868-48958141	K562	blood:	n/a	n/a
3	ZNF384	chr3:48955642-48958084	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48956178..48958930-chr3:48964681..48967359,2	MCF-7	breast:
2	chr3:48722838..48724823-chr3:48955919..48958463,2	K562	blood:
3	chr3:48954426..48959569-chr3:49057203..49060067,5	K562	blood:
4	chr3:48700863..48702620-chr3:48955867..48958209,2	K562	blood:
5	chr3:48956190..48958160-chr3:48963848..48966266,2	MCF-7	breast:
6	chr3:48777544..48781186-chr3:48954650..48958375,5	K562	blood:
7	chr3:48955694..48958185-chr3:49021057..49023573,2	K562	blood:
8	chr3:48831351..48833653-chr3:48957027..48958695,2	MCF-7	breast:
9	chr3:48882526..48886164-chr3:48952991..48958735,8	K562	blood:
10	chr3:48882526..48887589-chr3:48952932..48958567,11	K562	blood:
11	chr3:48956092..48958804-chr3:49057398..49059224,2	K562	blood:
12	chr3:48933374..48937590-chr3:48954193..48958596,7	K562	blood:

No data

Variant related genes	Relation type
ARIH2OS	TF binding region
ARIH2	TF binding region
ENSG00000177479	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000224424	Chromatin interaction
ENSG00000068745	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000114302	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000235236	Chromatin interaction
ENSG00000228350	Chromatin interaction
ENSG00000178537	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000273211	Chromatin interaction
ENSG00000213672	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv980012	chr3:48935037-48963512	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv3394753	chr3:48956248-48960046	Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3340246	chr3:48956448-48960646	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	esv3461083	chr3:48956973-48960121	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv3346770	chr3:48957098-48959796	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	esv3461085	chr3:48957264-48959239	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	esv2473053	chr3:48957279-48959505	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	esv3461081	chr3:48957388-48959185	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
11	esv3461082	chr3:48957598-48959446	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
12	esv3461087	chr3:48957674-48959474	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
13	esv3399339	chr3:48957692-48958812	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
14	esv3461084	chr3:48957723-48958853	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
15	esv3461088	chr3:48957723-48958853	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
16	esv3492991	chr3:48957754-48958781	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	esv3492992	chr3:48957754-48958781	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48955200-48958200	Active TSS	GM12878-XiMat	blood
2	chr3:48955200-48958200	Active TSS	K562	blood
3	chr3:48955400-48958000	Active TSS	A549	lung
4	chr3:48957200-48965000	Weak transcription	Small Intestine	intestine
5	chr3:48957400-48958000	Enhancers	Fetal Brain Male	brain
6	chr3:48957400-48958200	Flanking Active TSS	Dnd41	blood
7	chr3:48957400-48959000	Weak transcription	Spleen	Spleen
8	chr3:48957400-48961400	Weak transcription	Ovary	ovary
9	chr3:48957400-49003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:48957600-48958000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:48957600-48958200	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:48957600-48958200	Enhancers	Lung	lung
13	chr3:48957600-48958200	Flanking Active TSS	Hela-S3	cervix
14	chr3:48957600-48958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:48957600-48958400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:48957600-48958800	Weak transcription	Pancreas	Pancrea
17	chr3:48957600-48959000	Weak transcription	Esophagus	oesophagus
18	chr3:48957600-48959000	Weak transcription	Gastric	stomach
19	chr3:48957600-48959800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:48957600-48961400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:48957600-48961400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:48957600-48964400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:48957600-48964400	Weak transcription	HSMMtube	muscle
24	chr3:48957600-48965000	Weak transcription	Fetal Kidney	kidney
25	chr3:48957600-48974400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:48957800-48958000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:48957800-48958000	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:48957800-48958000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:48957800-48958000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr3:48957800-48958000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:48957800-48958000	Enhancers	Brain Hippocampus Middle	brain
32	chr3:48957800-48958000	Enhancers	Colon Smooth Muscle	Colon
33	chr3:48957800-48958000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:48957800-48958000	Enhancers	Stomach Mucosa	stomach
35	chr3:48957800-48958000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr3:48957800-48958200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:48957800-48958200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:48957800-48958200	Enhancers	Fetal Muscle Trunk	muscle
39	chr3:48957800-48958200	Active TSS	Stomach Smooth Muscle	stomach
40	chr3:48957800-48958600	Enhancers	Liver	Liver
41	chr3:48957800-48958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:48957800-48958800	Weak transcription	Primary T cells from cord blood	blood
43	chr3:48957800-48958800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:48957800-48958800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:48957800-48958800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:48957800-48958800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr3:48957800-48958800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:48957800-48958800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr3:48957800-48958800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:48957800-48958800	Weak transcription	Muscle Satellite Cultured Cells	--

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