Variant report

Variant	rs4885357
Chromosome Location	chr13:76450255-76450256
allele	A/C
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	CTCF	chr13:76450224-76451158	HCT-116	colon:	n/a	chr13:76450399-76450412 chr13:76450713-76450722 chr13:76450712-76450733 chr13:76450396-76450409 chr13:76450710-76450728
2	SMC3	chr13:76450142-76451486	SK-N-SH	brain:	n/a	chr13:76450712-76450726 chr13:76450402-76450412 chr13:76450398-76450412
3	CTCF	chr13:76450180-76450330	HMEC	breast:	n/a	n/a
4	CTCF	chr13:76450240-76450390	NB4	blood:	n/a	n/a
5	RAD21	chr13:76450079-76451484	SK-N-SH	brain:	n/a	chr13:76450402-76450412 chr13:76450400-76450413 chr13:76451175-76451187 chr13:76450711-76450730
6	CTCF	chr13:76450160-76450310	HPF	lung:	n/a	n/a
7	CEBPB	chr13:76450233-76450801	A549	lung:	n/a	chr13:76450459-76450470 chr13:76450459-76450472
8	RAD21	chr13:76450217-76451166	H1-hESC	embryonic stem cell:	n/a	chr13:76450402-76450412 chr13:76450400-76450413 chr13:76450711-76450730
9	CTCF	chr13:76450152-76451245	SK-N-SH	brain:	n/a	chr13:76450399-76450412 chr13:76450713-76450722 chr13:76450712-76450733 chr13:76450396-76450409 chr13:76450710-76450728

No.	Distal block	Cell Line	Cell type
1	chr13:76450136..76450986-chr13:77047347..77048254,3	K562	blood:
2	chr13:76450119..76450751-chr13:76590749..76591620,4	MCF-7	breast:
3	chr13:76450221..76451145-chr13:76590691..76591575,2	K562	blood:

Variant related genes	Relation type
ENSG00000223458	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12427729	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12428250	0.87[AFR][1000 genomes]
rs12428617	1.00[CEU][hapmap];0.87[AFR][1000 genomes]
rs12428746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12429534	0.87[AFR][1000 genomes]
rs12430034	0.87[AFR][1000 genomes]
rs12430940	0.80[AMR][1000 genomes]
rs1542115	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17065053	0.87[AFR][1000 genomes]
rs17065074	0.87[AFR][1000 genomes]
rs17065145	0.84[CHB][hapmap];0.85[AMR][1000 genomes]
rs2120060	0.84[CHB][hapmap];0.80[AMR][1000 genomes]
rs2165774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241913	0.87[AFR][1000 genomes]
rs2296093	0.85[AMR][1000 genomes]
rs3736858	0.82[AMR][1000 genomes]
rs3783025	0.80[AMR][1000 genomes]
rs3825439	0.84[CHB][hapmap];0.80[AMR][1000 genomes]
rs41287008	0.80[AMR][1000 genomes]
rs61958155	0.87[AFR][1000 genomes]
rs61958157	0.87[AFR][1000 genomes]
rs61959560	0.87[AFR][1000 genomes]
rs61959561	0.87[AFR][1000 genomes]
rs61959583	0.85[AMR][1000 genomes]
rs61959624	0.85[AMR][1000 genomes]
rs61959635	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9318380	0.85[AMR][1000 genomes]
rs9530471	0.84[CHB][hapmap];0.85[AMR][1000 genomes]
rs9544049	0.80[AMR][1000 genomes]
rs9544050	0.84[CHB][hapmap]
rs9544051	0.84[CHB][hapmap];0.80[AMR][1000 genomes]
rs9544056	0.92[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9544059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76440000-76469200	Weak transcription	HSMM	muscle
2	chr13:76444400-76451000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:76444800-76450400	Weak transcription	Fetal Heart	heart
4	chr13:76445000-76450400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:76445000-76450400	Weak transcription	Fetal Intestine Small	intestine
6	chr13:76445000-76450400	Weak transcription	GM12878-XiMat	blood
7	chr13:76445000-76450600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr13:76445000-76450800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:76445000-76451000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:76445200-76450400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:76445200-76451000	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:76445400-76450400	Weak transcription	A549	lung
13	chr13:76445400-76454400	Weak transcription	Osteobl	bone
14	chr13:76445600-76450400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:76445600-76450400	Weak transcription	Fetal Brain Female	brain
16	chr13:76445600-76453400	Weak transcription	Adipose Nuclei	Adipose
17	chr13:76445600-76453600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:76446000-76450400	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:76448400-76450400	Weak transcription	HMEC	breast
20	chr13:76449000-76451000	Enhancers	Primary T cells from cord blood	blood
21	chr13:76449000-76451200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:76449000-76451600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:76449200-76450400	Weak transcription	Fetal Lung	lung
24	chr13:76449200-76451000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:76449400-76450400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr13:76449600-76450400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr13:76449600-76450400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:76449600-76450600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:76449600-76450600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:76449600-76451600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr13:76449800-76450600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr13:76449800-76450800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr13:76449800-76450800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr13:76449800-76451000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr13:76449800-76451200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr13:76449800-76451200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr13:76450000-76450400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr13:76450000-76451200	Enhancers	Fetal Brain Male	brain
39	chr13:76450000-76451200	Enhancers	Fetal Thymus	thymus
40	chr13:76450200-76450400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:76450200-76450400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr13:76450200-76450600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:76450200-76450600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr13:76450200-76450800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr13:76450200-76451800	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links