Variant report

Variant	rs1868345
Chromosome Location	chr8:59770460-59770461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59766928..59769439-chr8:59769893..59772631,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10504263	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504265	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075418	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541161	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1375185	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448546	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214703	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17293660	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3888823	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737522	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56055689	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56371425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62505116	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62505118	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62505119	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62505121	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464175	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
2	chr8:59745600-59770800	Weak transcription	Fetal Kidney	kidney
3	chr8:59745800-59770800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:59746400-59773200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:59747400-59770800	Weak transcription	Pancreas	Pancrea
6	chr8:59750800-59771000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:59755800-59772200	Weak transcription	Small Intestine	intestine
8	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:59760400-59770800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:59761000-59777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:59761200-59770800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:59762000-59770800	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:59763000-59771000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:59763000-59771200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:59763200-59771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:59763400-59771000	Weak transcription	Fetal Intestine Large	intestine
17	chr8:59764200-59770800	Weak transcription	Fetal Lung	lung
18	chr8:59764200-59771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:59764200-59771200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:59764200-59771800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:59764200-59777600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:59764400-59770800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:59764400-59771000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:59764400-59771000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:59764400-59771000	Weak transcription	Esophagus	oesophagus
27	chr8:59764400-59771000	Weak transcription	Gastric	stomach
28	chr8:59764400-59771000	Weak transcription	Thymus	Thymus
29	chr8:59766800-59770800	Enhancers	NHDF-Ad	bronchial
30	chr8:59767000-59771600	Enhancers	NHLF	lung
31	chr8:59767000-59773800	Enhancers	HSMM	muscle
32	chr8:59767200-59770800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:59768000-59770800	Enhancers	NHEK	skin
34	chr8:59768000-59771000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:59768000-59773600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:59768200-59770800	Enhancers	Osteobl	bone
37	chr8:59768200-59771600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:59768200-59771600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:59768200-59771600	Enhancers	K562	blood
40	chr8:59768200-59773800	Enhancers	NH-A	brain
41	chr8:59768400-59770800	Enhancers	HMEC	breast
42	chr8:59768400-59771600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:59768400-59771600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:59768400-59773000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr8:59768600-59770800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:59768600-59771000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:59769000-59770600	Genic enhancers	Dnd41	blood
48	chr8:59769000-59770800	Enhancers	HSMMtube	muscle
49	chr8:59769000-59771400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:59769400-59770600	Weak transcription	Primary hematopoietic stem cells	blood

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