Variant report

Variant	rs1011484
Chromosome Location	chr13:38922812-38922813
allele	A/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	POLR2A	chr13:38922711-38925551	GM12891	blood:	n/a	n/a
2	FOS	chr13:38922539-38923889	MCF10A-Er-Src	breast:	n/a	chr13:38923006-38923018
3	MAZ	chr13:38922676-38924917	IMR90	lung:	n/a	chr13:38923623-38923633
4	POLR2A	chr13:38922481-38924833	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr13:38922768-38926092	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:38922491-38925197	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr13:38922679-38925142	IMR90	lung:	n/a	chr13:38923581-38923596 chr13:38924465-38924474 chr13:38924482-38924491
8	POLR2A	chr13:38922725-38925073	PBDE	blood:	n/a	n/a
9	RCOR1	chr13:38922660-38924681	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38903073..38904879-chr13:38922211..38923976,2	K562	blood:
2	chr13:38921186..38924004-chr13:38924043..38925621,2	MCF-7	breast:

Variant related genes	Relation type
UFM1	TF binding region
ENSG00000120686	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10507469	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10507470	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590952	1.00[ASN][1000 genomes]
rs17057355	1.00[CHB][hapmap]
rs17057710	1.00[ASN][1000 genomes]
rs17057848	1.00[ASN][1000 genomes]
rs17057900	1.00[ASN][1000 genomes]
rs2019516	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173948	1.00[ASN][1000 genomes]
rs2231320	1.00[ASN][1000 genomes]
rs2231335	1.00[ASN][1000 genomes]
rs2231336	1.00[ASN][1000 genomes]
rs2455408	1.00[ASN][1000 genomes]
rs2455413	1.00[ASN][1000 genomes]
rs2481887	1.00[ASN][1000 genomes]
rs2481888	1.00[ASN][1000 genomes]
rs2481892	1.00[ASN][1000 genomes]
rs2485779	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2496468	1.00[ASN][1000 genomes]
rs56306542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73460283	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047550	1.00[ASN][1000 genomes]
rs74047552	1.00[ASN][1000 genomes]
rs74047553	1.00[ASN][1000 genomes]
rs74047554	1.00[ASN][1000 genomes]
rs9532217	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888482	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv561512	chr13:38881318-38930893	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38920200-38923000	Weak transcription	Psoas Muscle	Psoas
2	chr13:38920400-38923000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:38920400-38923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:38922400-38925200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr13:38922600-38923000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr13:38922600-38923000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr13:38922600-38923000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr13:38922600-38923000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr13:38922600-38923000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr13:38922600-38923000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr13:38922600-38923000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr13:38922600-38923000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:38922600-38923000	Enhancers	Colon Smooth Muscle	Colon
14	chr13:38922600-38923000	Enhancers	Fetal Heart	heart
15	chr13:38922600-38923000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr13:38922600-38923000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr13:38922600-38923000	Enhancers	Small Intestine	intestine
18	chr13:38922600-38923000	Enhancers	HepG2	liver
19	chr13:38922600-38923000	Flanking Active TSS	HMEC	breast
20	chr13:38922600-38923200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:38922600-38923200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr13:38922600-38923200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:38922600-38923200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr13:38922600-38923200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:38922600-38923400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:38922600-38923400	Flanking Active TSS	Dnd41	blood
27	chr13:38922600-38923400	Flanking Active TSS	Osteobl	bone
28	chr13:38922600-38923600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:38922600-38924800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr13:38922600-38925000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr13:38922600-38925000	Active TSS	K562	blood
32	chr13:38922600-38925200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:38922600-38925200	Active TSS	HSMMtube	muscle
34	chr13:38922600-38926000	Active TSS	Right Atrium	heart
35	chr13:38922800-38923000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:38922800-38923000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:38922800-38923000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr13:38922800-38923000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
39	chr13:38922800-38923000	Enhancers	Primary B cells from peripheral blood	blood
40	chr13:38922800-38923000	Enhancers	Primary T cells from cord blood	blood
41	chr13:38922800-38923000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr13:38922800-38923000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr13:38922800-38923000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:38922800-38923000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:38922800-38923000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr13:38922800-38923000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr13:38922800-38923000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr13:38922800-38923000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr13:38922800-38923000	Flanking Active TSS	Stomach Mucosa	stomach
50	chr13:38922800-38923000	Flanking Active TSS	A549	lung

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