Variant report

Variant	rs73450342
Chromosome Location	chr13:30509531-30509532
allele	C/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	FOXM1	chr13:30509511-30510274	GM12878	blood:	n/a	n/a
2	RUNX3	chr13:30509501-30510184	GM12878	blood:	n/a	n/a
3	EBF1	chr13:30509430-30510095	GM12878	blood:	n/a	n/a
4	POLR2A	chr13:30509164-30509583	H1-neurons	neurons:	n/a	n/a
5	RUNX3	chr13:30509478-30510190	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30508008..30510755-chr13:30510923..30512750,2	MCF-7	breast:

Variant related genes	Relation type
LINC00544	TF binding region
ENSG00000122043	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10492461	1.00[ASN][1000 genomes]
rs11838968	1.00[ASN][1000 genomes]
rs11839078	1.00[ASN][1000 genomes]
rs11840419	1.00[ASN][1000 genomes]
rs11840423	1.00[ASN][1000 genomes]
rs11841787	1.00[ASN][1000 genomes]
rs11842111	1.00[ASN][1000 genomes]
rs11842198	1.00[ASN][1000 genomes]
rs11842394	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842819	1.00[ASN][1000 genomes]
rs1557088	1.00[ASN][1000 genomes]
rs17074013	1.00[ASN][1000 genomes]
rs17074016	1.00[ASN][1000 genomes]
rs17074063	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074065	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074067	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074166	1.00[ASN][1000 genomes]
rs17074176	1.00[ASN][1000 genomes]
rs1998729	1.00[ASN][1000 genomes]
rs4238129	1.00[ASN][1000 genomes]
rs4578499	1.00[ASN][1000 genomes]
rs4769786	1.00[ASN][1000 genomes]
rs4769787	1.00[ASN][1000 genomes]
rs4769788	1.00[ASN][1000 genomes]
rs4769790	1.00[ASN][1000 genomes]
rs4769791	1.00[ASN][1000 genomes]
rs496557	1.00[ASN][1000 genomes]
rs524939	1.00[ASN][1000 genomes]
rs525768	1.00[ASN][1000 genomes]
rs552465	1.00[ASN][1000 genomes]
rs61285944	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638278	1.00[ASN][1000 genomes]
rs661331	1.00[ASN][1000 genomes]
rs729285	1.00[ASN][1000 genomes]
rs73159369	1.00[ASN][1000 genomes]
rs73159387	1.00[ASN][1000 genomes]
rs73450320	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450326	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450335	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450337	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450344	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450347	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450349	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745251	1.00[ASN][1000 genomes]
rs745252	1.00[ASN][1000 genomes]
rs9506248	1.00[ASN][1000 genomes]
rs9508600	1.00[ASN][1000 genomes]
rs9508603	1.00[ASN][1000 genomes]
rs9508605	1.00[ASN][1000 genomes]
rs9508611	1.00[ASN][1000 genomes]
rs9508613	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr13:30498800-30513200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:30499000-30510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:30508000-30510000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:30508000-30510000	Enhancers	Thymus	Thymus
5	chr13:30508200-30509800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr13:30508200-30510000	Enhancers	Primary T cells from cord blood	blood
7	chr13:30508200-30510000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr13:30508200-30510000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:30508400-30509800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr13:30508400-30509800	Enhancers	Fetal Brain Female	brain
11	chr13:30508400-30510000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr13:30508400-30510000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr13:30508400-30510000	Enhancers	Fetal Thymus	thymus
14	chr13:30508600-30509800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr13:30508600-30510400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:30508800-30509800	Enhancers	Brain Cingulate Gyrus	brain
17	chr13:30508800-30510600	Enhancers	Fetal Brain Male	brain
18	chr13:30509000-30509600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:30509000-30509600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:30509000-30509800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr13:30509000-30510800	Enhancers	Stomach Mucosa	stomach
22	chr13:30509000-30512600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:30509200-30509600	Enhancers	Brain Anterior Caudate	brain
24	chr13:30509200-30510000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:30509200-30510000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr13:30509200-30510200	Enhancers	Duodenum Mucosa	Duodenum
27	chr13:30509200-30510400	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr13:30509200-30510600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:30509200-30511000	Enhancers	Primary B cells from peripheral blood	blood
30	chr13:30509400-30509800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr13:30509400-30509800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr13:30509400-30509800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:30509400-30509800	Bivalent Enhancer	Placenta	Placenta
34	chr13:30509400-30510000	Enhancers	Primary B cells from cord blood	blood
35	chr13:30509400-30510000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:30509400-30510000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:30509400-30510000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr13:30509400-30510200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr13:30509400-30510200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:30509400-30510400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr13:30509400-30510400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr13:30509400-30510600	Enhancers	Fetal Intestine Large	intestine
43	chr13:30509400-30510600	Flanking Active TSS	GM12878-XiMat	blood
44	chr13:30509400-30510800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:30509400-30511600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr13:30509400-30511600	Enhancers	Liver	Liver
47	chr13:30509400-30512800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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