Variant report

Variant	rs11998693
Chromosome Location	chr8:59765648-59765649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59757012..59762726-chr8:59763817..59766643,5	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10092016	1.00[CEU][hapmap]
rs10504264	0.90[EUR][1000 genomes]
rs10504276	1.00[CEU][hapmap]
rs11995430	1.00[CEU][hapmap]
rs12678687	1.00[CHB][hapmap]
rs12679949	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16918743	1.00[CEU][hapmap]
rs16924012	1.00[CEU][hapmap]
rs16924088	1.00[CEU][hapmap]
rs16924092	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs16924095	0.90[EUR][1000 genomes]
rs16924117	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs16924124	0.90[EUR][1000 genomes]
rs16924147	1.00[CEU][hapmap]
rs16924330	1.00[CEU][hapmap]
rs16924342	1.00[CEU][hapmap]
rs16924346	1.00[CEU][hapmap]
rs16924369	1.00[CEU][hapmap]
rs16924484	1.00[CEU][hapmap]
rs2122015	0.95[EUR][1000 genomes]
rs2166923	1.00[CEU][hapmap]
rs41468545	1.00[CEU][hapmap]
rs57636927	0.90[EUR][1000 genomes]
rs6992462	0.81[ASN][1000 genomes]
rs73243092	0.90[EUR][1000 genomes]
rs73249047	0.90[EUR][1000 genomes]
rs7821556	1.00[CEU][hapmap]
rs9643507	1.00[CEU][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11998693	FLJ31306	trans	lymphoblastoid	RTeQTL
rs11998693	C9orf84	trans	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 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	chr8:59755600-59770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:59755800-59772200	Weak transcription	Small Intestine	intestine
9	chr8:59758400-59768600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:59759600-59770200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:59760400-59770800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:59761000-59777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:59761200-59770800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:59761600-59769000	Strong transcription	Dnd41	blood
16	chr8:59762000-59770800	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:59762200-59766200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr8:59763000-59767000	Weak transcription	NHLF	lung
19	chr8:59763000-59771000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:59763000-59771200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:59763200-59767000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:59763200-59767000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:59763200-59768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:59763200-59768400	Weak transcription	Placenta	Placenta
25	chr8:59763200-59771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:59763400-59770200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:59763400-59771000	Weak transcription	Fetal Intestine Large	intestine
28	chr8:59763800-59768400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:59763800-59769000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:59764000-59770000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:59764200-59765800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:59764200-59767000	Weak transcription	HSMM	muscle
33	chr8:59764200-59767200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:59764200-59768200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:59764200-59768400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:59764200-59768400	Weak transcription	HSMMtube	muscle
37	chr8:59764200-59768600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:59764200-59768800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:59764200-59769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:59764200-59770200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:59764200-59770400	Weak transcription	Primary T cells from cord blood	blood
42	chr8:59764200-59770800	Weak transcription	Fetal Lung	lung
43	chr8:59764200-59771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:59764200-59771200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:59764200-59771800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:59764200-59777600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:59764400-59767200	Weak transcription	HUVEC	blood vessel
49	chr8:59764400-59768000	Weak transcription	NHEK	skin
50	chr8:59764400-59768200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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