Variant report

Variant	rs13335932
Chromosome Location	chr16:30368510-30368511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30366368-30369039	K562	blood:	n/a	n/a
2	POLR2A	chr16:30366144-30368980	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr16:30368160-30368626	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr16:30368214-30368514	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:30360110-30369693	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:30365726-30368558	K562	blood:	n/a	n/a
7	POLR2A	chr16:30361391-30369063	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:30365817-30371152	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:30368342-30368926	K562	blood:	n/a	n/a
10	POLR2A	chr16:30368466-30368979	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:30366173-30368529	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr16:30368433-30369238	K562	blood:	n/a	n/a
13	POLR2A	chr16:30368457-30369042	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr16:30366063-30370342	HL-60	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30367168..30369191-chr16:30427259..30429781,3	MCF-7	breast:
2	chr16:30352329..30355264-chr16:30366983..30369015,2	MCF-7	breast:
3	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
4	chr16:30366631..30368676-chr16:30418622..30421183,2	K562	blood:
5	chr16:30365100..30369727-chr16:30387622..30391726,6	MCF-7	breast:
6	chr16:30366343..30369642-chr16:30417468..30420757,5	MCF-7	breast:
7	chr16:30365182..30368523-chr16:30417932..30420526,3	K562	blood:
8	chr16:30366587..30368630-chr16:30455863..30457580,2	MCF-7	breast:
9	chr16:30346600..30349195-chr16:30368061..30370444,2	K562	blood:
10	chr16:30134488..30136280-chr16:30366948..30369279,2	K562	blood:
11	chr16:30366000..30368960-chr16:68270888..68273271,2	MCF-7	breast:
12	chr16:30365775..30369229-chr16:30392373..30394486,5	K562	blood:

No data

Variant related genes	Relation type
CD2BP2	TF binding region
ENSG00000179918	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000102882	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000103067	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000261469	Chromatin interaction
ENSG00000180209	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13330462	1.00[ASW][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28404428	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4072354	0.82[ASW][hapmap];1.00[ASN][1000 genomes]
rs4341758	1.00[ASN][1000 genomes]
rs4387618	1.00[GIH][hapmap]
rs73532587	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9926426	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9926923	1.00[ASN][1000 genomes]
rs9928218	1.00[ASW][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][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	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13335932	QPRT	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30364400-30371800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:30367200-30368600	Flanking Active TSS	Hela-S3	cervix
3	chr16:30367200-30371200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:30367400-30368600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:30367400-30368600	Enhancers	NHDF-Ad	bronchial
6	chr16:30367400-30368800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:30367400-30377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:30367400-30377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:30367600-30368600	Enhancers	Gastric	stomach
10	chr16:30367600-30368800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr16:30367600-30368800	Genic enhancers	Osteobl	bone
12	chr16:30367600-30369000	Genic enhancers	Muscle Satellite Cultured Cells	--
13	chr16:30367600-30369000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:30367600-30369000	Weak transcription	Aorta	Aorta
15	chr16:30367600-30369200	Weak transcription	Ovary	ovary
16	chr16:30367600-30369400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:30367600-30371600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:30367600-30375200	Weak transcription	Small Intestine	intestine
19	chr16:30367600-30378600	Weak transcription	Fetal Kidney	kidney
20	chr16:30367600-30378600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr16:30367600-30378800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:30367800-30368600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr16:30367800-30368600	Enhancers	Primary hematopoietic stem cells	blood
24	chr16:30367800-30368800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr16:30367800-30368800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:30367800-30369000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:30367800-30369000	Enhancers	HSMM	muscle
28	chr16:30367800-30369200	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr16:30367800-30369200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
30	chr16:30367800-30369200	Genic enhancers	Fetal Intestine Large	intestine
31	chr16:30367800-30369400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr16:30367800-30369600	Genic enhancers	Fetal Brain Female	brain
33	chr16:30367800-30369800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr16:30367800-30370800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:30367800-30371600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:30367800-30374000	Weak transcription	HUVEC	blood vessel
37	chr16:30367800-30378000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr16:30368000-30368600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:30368000-30368600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr16:30368000-30368600	Enhancers	Liver	Liver
41	chr16:30368000-30368600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:30368000-30368600	Genic enhancers	Brain Substantia Nigra	brain
43	chr16:30368000-30368600	Weak transcription	Colonic Mucosa	Colon
44	chr16:30368000-30368600	Enhancers	Stomach Mucosa	stomach
45	chr16:30368000-30368800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr16:30368000-30368800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:30368000-30368800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:30368000-30368800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:30368000-30368800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr16:30368000-30368800	Genic enhancers	Brain Hippocampus Middle	brain

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