Variant report

Variant	rs17531181
Chromosome Location	chr13:52163202-52163203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:52163191-52163391	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr13:52162902-52163259	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:52161646..52163568-chr13:52308170..52310143,2	MCF-7	breast:
2	chr13:52162017..52163554-chr13:52169450..52171353,2	MCF-7	breast:
3	chr13:52015950..52029988-chr13:52150583..52166755,85	MCF-7	breast:
4	chr13:52009973..52011710-chr13:52162092..52163750,2	MCF-7	breast:
5	chr13:52022285..52029211-chr13:52148229..52167071,88	MCF-7	breast:
6	chr13:52161931..52163460-chr13:52168528..52170984,2	K562	blood:
7	chr13:52157062..52162024-chr13:52162079..52168293,13	MCF-7	breast:
8	chr13:52158311..52160568-chr13:52160634..52165811,6	MCF-7	breast:
9	chr13:52162651..52164696-chr13:52201032..52202688,2	MCF-7	breast:
10	chr13:52023783..52027256-chr13:52163004..52167854,10	K562	blood:
11	chr13:52162918..52164535-chr13:52376933..52379422,2	K562	blood:
12	chr13:52162012..52164876-chr13:52292146..52294870,2	K562	blood:
13	chr13:52025295..52029108-chr13:52160696..52165765,10	K562	blood:

No data

Variant related genes	Relation type
RNY1P6	TF binding region
ENSG00000206920	Chromatin interaction
ENSG00000231856	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000139668	Chromatin interaction
ENSG00000102796	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1058141	0.96[GIH][hapmap];1.00[MEX][hapmap]
rs10676	0.88[GIH][hapmap];0.82[MEX][hapmap]
rs12427805	0.96[GIH][hapmap];1.00[MEX][hapmap]
rs12428478	0.96[GIH][hapmap];0.87[LWK][hapmap];0.89[AMR][1000 genomes]
rs12430506	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12430600	0.96[GIH][hapmap];0.93[MEX][hapmap]
rs12430760	0.85[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12431173	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17069413	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17075849	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2296027	0.93[GIH][hapmap];0.93[MEX][hapmap]
rs2408491	0.96[GIH][hapmap];1.00[MEX][hapmap]
rs59291282	0.81[AMR][1000 genomes]
rs73199739	0.89[AMR][1000 genomes]
rs73199742	0.88[AMR][1000 genomes]
rs7321346	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7329391	0.93[GIH][hapmap];1.00[MEX][hapmap]
rs74086223	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8001480	0.85[CEU][hapmap];0.88[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9316548	0.82[AFR][1000 genomes]
rs9596530	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9596572	0.93[GIH][hapmap];1.00[MEX][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17531181	FLJ13639	cis	multi-tissue	Pritchard

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52159600-52165000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:52159600-52165200	Weak transcription	Gastric	stomach
3	chr13:52159600-52165200	Weak transcription	Small Intestine	intestine
4	chr13:52159600-52170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:52159600-52174600	Weak transcription	Spleen	Spleen
6	chr13:52160000-52164200	Weak transcription	Liver	Liver
7	chr13:52160000-52165000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:52160200-52164000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:52160200-52164600	Weak transcription	Fetal Heart	heart
10	chr13:52160200-52165000	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:52160200-52165000	Weak transcription	Fetal Stomach	stomach
12	chr13:52160200-52165200	Weak transcription	Fetal Kidney	kidney
13	chr13:52160200-52165200	Weak transcription	Left Ventricle	heart
14	chr13:52160200-52165200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:52160200-52165200	Weak transcription	Stomach Mucosa	stomach
16	chr13:52160200-52166000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:52160200-52166600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:52160200-52168000	Weak transcription	Pancreas	Pancrea
19	chr13:52160200-52170800	Weak transcription	Fetal Intestine Small	intestine
20	chr13:52160200-52181400	Weak transcription	Thymus	Thymus
21	chr13:52160400-52163800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:52160400-52164000	Weak transcription	HUVEC	blood vessel
23	chr13:52160400-52165600	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:52160400-52173400	Weak transcription	Right Atrium	heart
25	chr13:52160400-52177000	Weak transcription	Right Ventricle	heart
26	chr13:52160600-52165600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:52160600-52169400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr13:52160600-52172200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:52160800-52163800	Weak transcription	Fetal Lung	lung
30	chr13:52160800-52163800	Weak transcription	NH-A	brain
31	chr13:52160800-52164200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr13:52160800-52164600	Enhancers	NHLF	lung
33	chr13:52160800-52165200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:52160800-52166000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:52160800-52166200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:52160800-52166200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr13:52160800-52168000	Weak transcription	Primary T cells from cord blood	blood
38	chr13:52161000-52163800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr13:52161200-52165000	Enhancers	K562	blood
40	chr13:52161200-52165200	Weak transcription	Fetal Brain Male	brain
41	chr13:52161200-52165800	Enhancers	Brain Substantia Nigra	brain
42	chr13:52161400-52164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:52161400-52165200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:52161400-52165600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:52161400-52167000	Weak transcription	Primary B cells from cord blood	blood
46	chr13:52161400-52167600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr13:52161400-52168800	Weak transcription	Fetal Brain Female	brain
48	chr13:52161600-52163800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:52161600-52163800	Enhancers	NHDF-Ad	bronchial
50	chr13:52161600-52164200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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