Variant report

Variant	rs11625452
Chromosome Location	chr14:68864457-68864458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68863962..68866276-chr14:68924626..68928147,6	MCF-7	breast:
2	chr14:68863838..68866613-chr14:68869983..68873336,6	MCF-7	breast:
3	chr14:68862313..68866033-chr14:69260307..69264039,7	MCF-7	breast:
4	chr14:68605654..68608460-chr14:68861850..68864803,2	MCF-7	breast:
5	chr14:68859762..68864000-chr14:68864300..68866609,3	K562	blood:
6	chr14:68858725..68872867-chr14:69250734..69263104,36	MCF-7	breast:
7	chr14:68749573..68752589-chr14:68864032..68866537,3	MCF-7	breast:
8	chr14:68862930..68865913-chr14:68933149..68936719,4	MCF-7	breast:
9	chr14:68862987..68864595-chr14:68942546..68944061,2	MCF-7	breast:
10	chr14:68863198..68864811-chr14:68906969..68909048,2	MCF-7	breast:
11	chr14:68864311..68866713-chr14:68933323..68935955,2	MCF-7	breast:
12	chr14:68863146..68866898-chr14:68882756..68885018,4	MCF-7	breast:
13	chr14:68825944..68827460-chr14:68863306..68865139,2	MCF-7	breast:
14	chr14:68862766..68869873-chr14:69251663..69259874,10	MCF-7	breast:
15	chr14:68829073..68831953-chr14:68862651..68864586,2	MCF-7	breast:
16	chr14:68857574..68861262-chr14:68863734..68866586,4	K562	blood:
17	chr14:68863006..68865932-chr14:69077018..69079780,3	MCF-7	breast:
18	chr14:68863291..68866067-chr14:68920468..68924017,3	MCF-7	breast:
19	chr14:68773029..68777937-chr14:68858584..68866534,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1006816	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs10150212	0.89[ASN][1000 genomes]
rs11158735	0.88[ASN][1000 genomes]
rs11158736	0.87[ASN][1000 genomes]
rs12435046	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435236	0.86[CHB][hapmap]
rs12889770	0.83[JPT][hapmap]
rs17105561	0.86[CHB][hapmap]
rs17105571	0.90[CHB][hapmap]
rs17105585	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs1885014	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs1956536	0.89[ASN][1000 genomes]
rs1956537	0.84[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2009721	0.82[CEU][hapmap]
rs2331693	0.85[CEU][hapmap]
rs2331696	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2877461	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs3784113	0.85[CEU][hapmap]
rs3784115	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs3784119	0.95[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3784120	0.84[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs3950069	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs4902576	0.82[JPT][hapmap]
rs4902577	0.83[JPT][hapmap]
rs4902579	0.86[CHB][hapmap]
rs4902583	0.85[CHB][hapmap]
rs55665241	0.96[ASN][1000 genomes]
rs61039700	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8013236	0.81[CEU][hapmap]
rs8014025	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014234	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018477	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs8021199	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11625452	CHURC1	cis	parietal	SCAN
rs11625452	DCAF5	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68856600-68865400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:68857000-68865800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:68858000-68865200	Enhancers	NHLF	lung
4	chr14:68858000-68865800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:68858200-68865600	Enhancers	Placenta	Placenta
6	chr14:68858400-68865200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:68858800-68865600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:68859000-68865400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:68859000-68865800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:68859200-68865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:68859800-68871400	Weak transcription	Gastric	stomach
12	chr14:68860600-68864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:68860600-68865600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:68860800-68865000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:68860800-68865400	Enhancers	NHDF-Ad	bronchial
16	chr14:68861000-68865400	Enhancers	Osteobl	bone
17	chr14:68861200-68866400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr14:68861200-68869400	Weak transcription	Liver	Liver
19	chr14:68861800-68864600	Weak transcription	Stomach Mucosa	stomach
20	chr14:68861800-68866800	Weak transcription	Psoas Muscle	Psoas
21	chr14:68861800-68871400	Weak transcription	Right Ventricle	heart
22	chr14:68862000-68865800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:68862000-68866800	Weak transcription	Brain Angular Gyrus	brain
24	chr14:68862000-68870400	Weak transcription	Brain Substantia Nigra	brain
25	chr14:68862200-68865200	Enhancers	Fetal Kidney	kidney
26	chr14:68862400-68864600	Weak transcription	Brain Anterior Caudate	brain
27	chr14:68862400-68864600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:68862400-68866000	Enhancers	Colon Smooth Muscle	Colon
29	chr14:68862400-68866400	Weak transcription	Dnd41	blood
30	chr14:68862400-68868000	Weak transcription	Aorta	Aorta
31	chr14:68862600-68864600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:68862600-68864600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:68862600-68865600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:68862600-68866600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:68862600-68869800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:68862800-68865000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:68863000-68865400	Enhancers	HMEC	breast
38	chr14:68863200-68865400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:68863400-68865600	Enhancers	Fetal Intestine Small	intestine
40	chr14:68863600-68865000	Enhancers	HepG2	liver
41	chr14:68863600-68865400	Enhancers	Ovary	ovary
42	chr14:68863600-68865600	Enhancers	Fetal Lung	lung
43	chr14:68863600-68865600	Enhancers	Fetal Muscle Leg	muscle
44	chr14:68863600-68865800	Enhancers	Fetal Intestine Large	intestine
45	chr14:68863600-68865800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:68863600-68870000	Enhancers	Primary B cells from cord blood	blood
47	chr14:68863600-68877200	Enhancers	Primary B cells from peripheral blood	blood
48	chr14:68863800-68865000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:68863800-68865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:68863800-68865000	Enhancers	Spleen	Spleen

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