Variant report

Variant	rs7993605
Chromosome Location	chr13:51466675-51466676
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	RUNX3	chr13:51466266-51466967	GM12878	blood:	n/a	n/a
2	REST	chr13:51466306-51466877	HL-60	blood:	n/a	chr13:51466482-51466495
3	NRF1	chr13:51466407-51466729	GM12878	blood:	n/a	n/a
4	POLR2A	chr13:51466312-51466681	GM12891	blood:	n/a	n/a
5	POLR2A	chr13:51466204-51466798	GM12892	blood:	n/a	n/a
6	POLR2A	chr13:51466272-51468206	GM12892	blood:	n/a	n/a
7	SPI1	chr13:51466201-51466874	HL-60	blood:	n/a	chr13:51466665-51466678
8	IKZF1	chr13:51466356-51466699	GM12878	blood:	n/a	n/a
9	TBP	chr13:51466319-51466920	GM12878	blood:	n/a	n/a
10	POLR2A	chr13:51466164-51466803	HL-60	blood:	n/a	n/a
11	YY1	chr13:51466308-51466690	GM12892	blood:	n/a	n/a
12	ATF2	chr13:51466205-51467011	GM12878	blood:	n/a	n/a
13	POLR2A	chr13:51465521-51468914	GM12891	blood:	n/a	n/a
14	MTA3	chr13:51466240-51467054	GM12878	blood:	n/a	n/a
15	ZNF384	chr13:51466301-51468162	GM12878	blood:	n/a	n/a
16	TAF1	chr13:51466285-51466761	GM12878	blood:	n/a	n/a
17	YY1	chr13:51466337-51466682	K562	blood:	n/a	n/a
18	POLR2A	chr13:51466288-51468163	GM12878	blood:	n/a	n/a
19	POLR2A	chr13:51466324-51466701	GM12878	blood:	n/a	n/a
20	RCOR1	chr13:51466464-51466683	GM12878	blood:	n/a	n/a
21	EP300	chr13:51466210-51468760	SK-N-SH	brain:	n/a	chr13:51466712-51466726 chr13:51467427-51467437 chr13:51466668-51466677 chr13:51467057-51467071 chr13:51466667-51466681 chr13:51467051-51467065 chr13:51467850-51467864 chr13:51467053-51467067
22	POLR2A	chr13:51466334-51466687	GM12891	blood:	n/a	n/a
23	NFIC	chr13:51466161-51467095	GM12878	blood:	n/a	n/a
24	MTA3	chr13:51466220-51467078	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RNASEH2B-AS1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12583026	0.86[EUR][1000 genomes]
rs12585449	0.86[EUR][1000 genomes]
rs34580649	0.86[EUR][1000 genomes]
rs9563007	1.00[CEU][hapmap]
rs9563008	1.00[CEU][hapmap]
rs9563010	1.00[CEU][hapmap]
rs9563011	1.00[CEU][hapmap]
rs9568490	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900077	chr13:51446114-51514831	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv900078	chr13:51454896-51478716	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51463800-51467400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51464200-51466800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:51464200-51466800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:51464400-51467400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr13:51464600-51467000	Flanking Active TSS	Dnd41	blood
6	chr13:51465200-51466800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr13:51465400-51466800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr13:51465400-51467200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr13:51465600-51468400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:51465600-51474600	Weak transcription	Aorta	Aorta
11	chr13:51465800-51467400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr13:51465800-51468400	Flanking Active TSS	Fetal Thymus	thymus
13	chr13:51466000-51467000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:51466000-51467000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:51466000-51467200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr13:51466000-51467600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:51466000-51468000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr13:51466000-51469000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:51466000-51469000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:51466000-51469200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:51466200-51466800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr13:51466200-51466800	Enhancers	Brain Germinal Matrix	brain
23	chr13:51466200-51467600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:51466200-51468000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr13:51466200-51468400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr13:51466200-51468800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:51466400-51466800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr13:51466400-51466800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:51466400-51467000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr13:51466400-51467000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:51466400-51467000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr13:51466400-51467200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr13:51466400-51467800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr13:51466400-51468200	Enhancers	HSMM	muscle
35	chr13:51466400-51468400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:51466400-51468400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr13:51466400-51468800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:51466600-51466800	Enhancers	Primary B cells from peripheral blood	blood
39	chr13:51466600-51467200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr13:51466600-51467200	Enhancers	Primary hematopoietic stem cells	blood
41	chr13:51466600-51467200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:51466600-51467200	Weak transcription	Fetal Muscle Leg	muscle
43	chr13:51466600-51467400	Active TSS	GM12878-XiMat	blood
44	chr13:51466600-51467600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr13:51466600-51467800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr13:51466600-51468200	Active TSS	Thymus	Thymus
47	chr13:51466600-51471000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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