Variant report

Variant	rs73528479
Chromosome Location	chr11:71259314-71259315
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:71259185-71259653	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71259292-71259342	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:71259292-71259342	AoSMC	blood vessel:	n/a
3	chr11:71259292-71259342	NHBE	bronchial:	n/a
4	chr11:71259292-71259342	NH-A	brain:	n/a
5	chr11:71259292-71259342	SAEC	small airway:	n/a
6	chr11:71259292-71259342	CMK	blood:	n/a
7	chr11:71259292-71259342	ECC-1	luminal epithelium:	n/a
8	chr11:71259292-71259342	PANC-1	pancreas:	n/a
9	chr11:71259292-71259342	HNPCEpiC	eye:	n/a
10	chr11:71259292-71259342	NB4	blood:	n/a
11	chr11:71259292-71259342	MCF10A-Er-Src	breast:	n/a
12	chr11:71259292-71259342	IMR90	lung:	fetal
13	chr11:71259292-71259342	HRPEpiC	eye:	n/a
14	chr11:71259292-71259342	GM12878	blood:	n/a
15	chr11:71259292-71259342	T-47D	breast:	n/a
16	chr11:71259292-71259342	HCM	heart:	n/a
17	chr11:71259292-71259342	ovcar-3	ovarian:	n/a
18	chr11:71259292-71259342	AG09319	gingival:	n/a
19	chr11:71259292-71259342	HEK293	kidney:	embryo
20	chr11:71259292-71259342	GM06990	blood:	n/a
21	chr11:71259292-71259342	NT2-D1	testis:	n/a
22	chr11:71259292-71259342	HCT-116	colon:	n/a
23	chr11:71259292-71259342	A549	lung:	n/a
24	chr11:71259292-71259342	AG04449	skin:	fetal
25	chr11:71259292-71259342	ProgFib	skin:	n/a
26	chr11:71259292-71259342	Hela-S3	cervix:	n/a
27	chr11:71259292-71259342	BJ	skin:	n/a
28	chr11:71259292-71259342	HMEC	breast:	n/a
29	chr11:71259292-71259342	H1-hESC	embryonic stem cell:	embryo
30	chr11:71259292-71259342	K562	blood:	n/a
31	chr11:71259292-71259342	NHDF-neo	bronchial:	n/a
32	chr11:71259292-71259342	HRCEpiC	kidney:	n/a
33	chr11:71259292-71259342	HAEpiC	amniotic membrane:	n/a
34	chr11:71259292-71259342	AG09309	skin:	n/a
35	chr11:71259292-71259342	SKMC	muscle:	n/a
36	chr11:71259292-71259342	GM12892	blood:	n/a
37	chr11:71259292-71259342	SK-N-SH_RA	brain:	n/a
38	chr11:71259292-71259342	Hepatocyte	liver:	n/a
39	chr11:71259292-71259342	AG10803	skin:	n/a
40	chr11:71259292-71259342	SK-N-MC	brain:	n/a
41	chr11:71259292-71259342	GM19239	blood:	n/a
42	chr11:71259292-71259342	U87	brain:	n/a
43	chr11:71259292-71259342	LNCaP	prostate:	n/a
44	chr11:71259292-71259342	HCF	heart:	n/a
45	chr11:71259292-71259342	PFSK-1	brain:	n/a
46	chr11:71259292-71259342	BE2_C	brain:	n/a
47	chr11:71259292-71259342	HRE	kidney:	n/a
48	chr11:71259292-71259342	HIPEpiC	eye:	n/a
49	chr11:71259292-71259342	RPTEC	kidney:	n/a
50	chr11:71259292-71259342	AG04450	lung:	fetal

No data

Variant related genes	Relation type
KRTAP5-9	TF binding region
KRTAP5-9	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4128739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57397699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58875192	1.00[AMR][1000 genomes]
rs61282803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61517798	1.00[AMR][1000 genomes]
rs73528436	0.87[EUR][1000 genomes]
rs73528454	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73528475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530493	1.00[AMR][1000 genomes]
rs73530494	1.00[AMR][1000 genomes]
rs73530497	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897900	chr11:71234107-71276909	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv897899	chr11:71234107-71277981	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3363568	chr11:71237277-71275754	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3425891	chr11:71237287-71275790	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3528100	chr11:71237332-71275725	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3528101	chr11:71237332-71275725	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3432021	chr11:71237346-71275760	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71232800-71259800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:71256000-71260000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:71256800-71262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:71258600-71259400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:71258600-71259400	Enhancers	Lung	lung
6	chr11:71258600-71260200	Enhancers	Adipose Nuclei	Adipose
7	chr11:71258600-71260400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr11:71258600-71260600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr11:71258600-71263600	Enhancers	GM12878-XiMat	blood
10	chr11:71258800-71259600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr11:71259000-71260200	Enhancers	Left Ventricle	heart
12	chr11:71259000-71260400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:71259200-71260400	Flanking Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links