Variant report

Variant	rs1574314
Chromosome Location	chr4:174106663-174106664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174105689..174108523-chr4:174110844..174113074,3	K562	blood:
2	chr4:174094706..174097585-chr4:174104711..174106711,3	MCF-7	breast:
3	chr4:174089462..174093511-chr4:174101322..174108928,6	MCF-7	breast:
4	chr4:174105689..174108453-chr4:174111352..174113074,2	K562	blood:
5	chr4:174103017..174104985-chr4:174106308..174108785,2	K562	blood:
6	chr4:174102044..174104831-chr4:174106302..174107893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245213	Chromatin interaction
ENSG00000109586	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10001613	0.93[ASN][1000 genomes]
rs10011724	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10012395	0.81[ASN][1000 genomes]
rs10027708	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10031414	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10520252	0.81[ASN][1000 genomes]
rs1054496	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1054497	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11737748	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs12503939	0.88[EUR][1000 genomes]
rs12639929	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs12644699	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs13111572	0.89[EUR][1000 genomes]
rs13125240	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs13138282	0.96[EUR][1000 genomes]
rs17322893	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs1991727	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2078475	0.97[EUR][1000 genomes]
rs2332654	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2332669	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs28477433	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28612521	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28701033	0.81[ASN][1000 genomes]
rs28709762	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2877748	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733477	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4377567	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4419455	0.86[CEU][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4561909	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs4643788	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4695826	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6553679	0.81[ASN][1000 genomes]
rs6553680	0.81[ASN][1000 genomes]
rs6814857	0.96[CEU][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6826412	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835098	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6851632	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671278	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7672108	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs9990666	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9997477	1.00[CEU][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1823585	chr4:174090209-174107537	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
2	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:174093600-174109800	Weak transcription	Gastric	stomach
4	chr4:174095000-174109400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:174096200-174111200	Weak transcription	Small Intestine	intestine
6	chr4:174098800-174108400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:174099000-174109400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:174099200-174111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:174100000-174112200	Weak transcription	Brain Substantia Nigra	brain
10	chr4:174103400-174106800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:174103600-174109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:174104000-174108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:174104000-174109400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:174104000-174109400	Weak transcription	Pancreas	Pancrea
15	chr4:174104000-174109400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:174104000-174112400	Weak transcription	Aorta	Aorta
17	chr4:174104000-174112400	Weak transcription	Brain Anterior Caudate	brain
18	chr4:174104000-174112600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:174104000-174157200	Weak transcription	Ovary	ovary
20	chr4:174104200-174108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:174104200-174112200	Weak transcription	Hela-S3	cervix
22	chr4:174104400-174106800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:174104400-174107000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:174104400-174108600	Weak transcription	Osteobl	bone
25	chr4:174104600-174107400	Weak transcription	NHDF-Ad	bronchial
26	chr4:174104600-174108600	Weak transcription	NHEK	skin
27	chr4:174104600-174108800	Weak transcription	HMEC	breast
28	chr4:174104600-174108800	Weak transcription	NH-A	brain
29	chr4:174104600-174110000	Weak transcription	HSMMtube	muscle
30	chr4:174104600-174112600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:174105000-174116400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:174105200-174110600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:174105600-174107600	Enhancers	Thymus	Thymus
34	chr4:174105800-174108600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:174105800-174109400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:174105800-174109800	Enhancers	Fetal Intestine Small	intestine
37	chr4:174106000-174106800	Enhancers	Duodenum Mucosa	Duodenum
38	chr4:174106000-174106800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr4:174106000-174107000	Enhancers	GM12878-XiMat	blood
40	chr4:174106000-174107800	Enhancers	K562	blood
41	chr4:174106000-174108000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr4:174106000-174108400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr4:174106000-174110200	Enhancers	Fetal Intestine Large	intestine
44	chr4:174106200-174107000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:174106200-174107200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr4:174106200-174107400	Enhancers	Primary hematopoietic stem cells	blood
47	chr4:174106200-174107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:174106200-174107400	Enhancers	Stomach Mucosa	stomach
49	chr4:174106200-174107600	Enhancers	Fetal Thymus	thymus
50	chr4:174106200-174107800	Enhancers	Primary T cells from cord blood	blood

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