Variant report

Variant	rs56396763
Chromosome Location	chr4:111009123-111009124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111008440..111011561-chr4:111115460..111119101,3	K562	blood:
2	chr4:111008615..111010206-chr4:111112826..111114472,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11726328	0.88[AFR][1000 genomes]
rs11726685	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11726743	0.88[AFR][1000 genomes]
rs11731118	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11737840	0.80[AMR][1000 genomes]
rs1468220	0.80[AMR][1000 genomes]
rs34415611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56177130	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56211927	0.88[AFR][1000 genomes]
rs56217731	0.88[AFR][1000 genomes]
rs56338714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56964693	1.00[ASN][1000 genomes]
rs61041575	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62325299	0.80[AMR][1000 genomes]
rs62325306	0.82[AMR][1000 genomes]
rs62325352	0.88[AFR][1000 genomes]
rs72679203	0.83[AFR][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:110986200-111009400	Weak transcription	NHLF	lung
4	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
6	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:111004400-111009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:111004400-111009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
11	chr4:111004800-111009800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:111006000-111009600	Enhancers	Fetal Intestine Small	intestine
13	chr4:111006000-111010200	Enhancers	Small Intestine	intestine
14	chr4:111006000-111011400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:111006000-111013200	Enhancers	Dnd41	blood
16	chr4:111006000-111014000	Enhancers	HMEC	breast
17	chr4:111006200-111009200	Enhancers	Duodenum Mucosa	Duodenum
18	chr4:111006200-111009600	Enhancers	HUVEC	blood vessel
19	chr4:111006200-111009800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:111006200-111012200	Enhancers	NHEK	skin
21	chr4:111006200-111012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:111006200-111012400	Enhancers	Osteobl	bone
23	chr4:111006200-111012600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:111006400-111009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:111006400-111010600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:111006400-111013000	Weak transcription	Fetal Kidney	kidney
27	chr4:111006600-111009200	Weak transcription	Fetal Thymus	thymus
28	chr4:111006600-111009600	Weak transcription	GM12878-XiMat	blood
29	chr4:111006600-111009800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:111006600-111012200	Enhancers	NHDF-Ad	bronchial
31	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:111006800-111009200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:111006800-111009200	Weak transcription	Adipose Nuclei	Adipose
34	chr4:111006800-111009200	Weak transcription	Gastric	stomach
35	chr4:111006800-111009800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:111006800-111012600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:111006800-111014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:111006800-111025800	Weak transcription	Liver	Liver
39	chr4:111007000-111009200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:111007000-111009600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr4:111007000-111010000	Weak transcription	Primary T cells from cord blood	blood
42	chr4:111007000-111010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:111007000-111010200	Enhancers	Brain Germinal Matrix	brain
44	chr4:111007000-111011600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:111007200-111009200	Weak transcription	Left Ventricle	heart
46	chr4:111007200-111009200	Weak transcription	HepG2	liver
47	chr4:111007400-111009400	Weak transcription	K562	blood
48	chr4:111007400-111010400	Enhancers	NH-A	brain
49	chr4:111007800-111009800	Enhancers	Brain Hippocampus Middle	brain
50	chr4:111007800-111011000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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