Variant report

Variant	rs73458414
Chromosome Location	chr13:30727893-30727894
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	PAX5	chr13:30727810-30728264	GM12892	blood:	n/a	n/a
2	YY1	chr13:30727725-30728042	GM12892	blood:	n/a	n/a
3	POLR2A	chr13:30727739-30728379	GM12892	blood:	n/a	n/a
4	PAX5	chr13:30727886-30728274	GM12892	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KATNAL1-2	chr13:30727171-30733758	XLOC_010554
2	lnc-RP11-90M5.1.1-3	chr13:30727850-30727977	NONHSAT032767

Variant related genes	Relation type
LINC00385	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1107118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11839185	1.00[EUR][1000 genomes]
rs11841189	1.00[EUR][1000 genomes]
rs55805305	1.00[EUR][1000 genomes]
rs73443604	1.00[EUR][1000 genomes]
rs73458409	1.00[EUR][1000 genomes]
rs73458419	1.00[EUR][1000 genomes]
rs73458420	1.00[EUR][1000 genomes]
rs73460544	1.00[EUR][1000 genomes]
rs74043036	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv561393	chr13:30726893-30748122	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr13:30718000-30728600	Weak transcription	Esophagus	oesophagus
3	chr13:30719800-30733800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:30723200-30728000	Weak transcription	GM12878-XiMat	blood
5	chr13:30723600-30728000	Weak transcription	Spleen	Spleen
6	chr13:30723600-30728200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:30725600-30728600	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:30726400-30728400	Enhancers	Fetal Brain Male	brain
9	chr13:30726600-30731600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:30726600-30732800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:30727000-30728200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr13:30727000-30730000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:30727000-30730200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr13:30727200-30730000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:30727200-30730200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr13:30727200-30732000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:30727400-30728400	Enhancers	Brain Germinal Matrix	brain
18	chr13:30727600-30728400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:30727600-30732200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:30727800-30728000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:30727800-30728400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:30727800-30728600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:30727800-30728600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr13:30727800-30729400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:30727800-30734600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links