Variant report

Variant	rs9999740
Chromosome Location	chr4:174103547-174103548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174102486..174104486-chr4:174109013..174111128,2	K562	blood:
2	chr4:174089462..174093511-chr4:174101322..174108928,6	MCF-7	breast:
3	chr4:174087322..174089631-chr4:174102847..174104512,2	K562	blood:
4	chr4:174103017..174104985-chr4:174106308..174108785,2	K562	blood:
5	chr4:174102044..174104831-chr4:174106302..174107893,2	MCF-7	breast:
6	chr4:174102924..174105374-chr4:174132748..174134859,2	K562	blood:
7	chr4:174103126..174105789-chr4:174112551..174114903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245213	Chromatin interaction
ENSG00000109586	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10001613	0.90[EUR][1000 genomes]
rs1008052	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10213525	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731263	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17059221	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2332655	0.89[EUR][1000 genomes]
rs28377337	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28451250	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28477861	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28663544	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4535319	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60815517	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6817013	0.89[ASN][1000 genomes]
rs72711045	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9683937	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9685946	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174091600-174113600	Weak transcription	Esophagus	oesophagus
2	chr4:174091800-174104000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:174092800-174103600	Weak transcription	Aorta	Aorta
4	chr4:174092800-174106000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:174092800-174109000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:174093600-174109800	Weak transcription	Gastric	stomach
7	chr4:174093800-174105000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:174095000-174109400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:174096200-174111200	Weak transcription	Small Intestine	intestine
10	chr4:174096800-174103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:174098000-174104200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr4:174098000-174106400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:174098600-174106200	Weak transcription	Fetal Thymus	thymus
14	chr4:174098800-174103800	Weak transcription	Thymus	Thymus
15	chr4:174098800-174104600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:174098800-174108400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:174099000-174106200	Weak transcription	Dnd41	blood
18	chr4:174099000-174109400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:174099200-174111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:174099800-174106000	Weak transcription	K562	blood
21	chr4:174100000-174112200	Weak transcription	Brain Substantia Nigra	brain
22	chr4:174100200-174103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:174100400-174103800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:174100400-174104200	Enhancers	Hela-S3	cervix
25	chr4:174101000-174104600	Enhancers	HSMM	muscle
26	chr4:174101000-174106600	Weak transcription	Primary B cells from cord blood	blood
27	chr4:174101200-174106000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:174101600-174103800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:174101800-174103600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:174101800-174104000	Enhancers	Primary hematopoietic stem cells	blood
31	chr4:174101800-174104600	Enhancers	Stomach Mucosa	stomach
32	chr4:174102000-174104600	Enhancers	NHDF-Ad	bronchial
33	chr4:174102000-174106400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:174102400-174104200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:174102400-174104200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:174102400-174104600	Enhancers	HMEC	breast
37	chr4:174102400-174104600	Enhancers	NHLF	lung
38	chr4:174102600-174104000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:174102600-174106600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:174102800-174103600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:174102800-174104000	Enhancers	Brain Anterior Caudate	brain
42	chr4:174102800-174104000	Enhancers	Colon Smooth Muscle	Colon
43	chr4:174102800-174104000	Flanking Active TSS	Osteobl	bone
44	chr4:174102800-174104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:174102800-174104600	Enhancers	NHEK	skin
46	chr4:174103000-174103800	Weak transcription	Pancreas	Pancrea
47	chr4:174103000-174103800	Flanking Active TSS	A549	lung
48	chr4:174103000-174104200	Weak transcription	GM12878-XiMat	blood
49	chr4:174103200-174104000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:174103200-174104000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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