Variant report

Variant	rs11993732
Chromosome Location	chr8:107736888-107736889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr8:107736601-107737426	GM12878	blood:	n/a	chr8:107737077-107737092
2	BATF	chr8:107736843-107737172	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:107736863-107736890	GM12878	blood:	n/a	n/a
4	NFIC	chr8:107736761-107737278	GM12878	blood:	n/a	n/a
5	RUNX3	chr8:107736867-107737286	GM12878	blood:	n/a	chr8:107737077-107737092

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107730935..107734307-chr8:107735195..107738044,3	K562	blood:

Variant related genes	Relation type
OXR1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11985106	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11990726	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990897	1.00[CEU][hapmap]
rs11991842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996910	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13260161	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28921379	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28921401	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28924697	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924705	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924709	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59850440	0.87[AMR][1000 genomes]
rs62514961	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514962	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514964	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514966	0.95[EUR][1000 genomes]
rs62514967	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514968	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514985	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514986	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514987	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514988	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514989	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62514990	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514991	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514992	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514993	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514994	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514995	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62514998	0.90[EUR][1000 genomes]
rs62515019	0.81[ASN][1000 genomes]
rs62515020	0.81[ASN][1000 genomes]
rs62517940	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
2	chr8:107692000-107738400	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:107694600-107738000	Weak transcription	Fetal Heart	heart
4	chr8:107696000-107737200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:107707800-107737800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:107710400-107738200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:107710400-107755400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:107711800-107738200	Weak transcription	Brain Angular Gyrus	brain
9	chr8:107717200-107737200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:107719000-107738200	Weak transcription	NHEK	skin
11	chr8:107719200-107742400	Weak transcription	Stomach Mucosa	stomach
12	chr8:107719600-107737000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:107719600-107737400	Weak transcription	Psoas Muscle	Psoas
14	chr8:107719600-107738000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:107719600-107738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:107719600-107738400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:107719600-107739600	Weak transcription	Left Ventricle	heart
18	chr8:107719600-107762400	Weak transcription	Lung	lung
19	chr8:107719600-107765600	Weak transcription	Colonic Mucosa	Colon
20	chr8:107719600-107775200	Weak transcription	Gastric	stomach
21	chr8:107719600-107777800	Weak transcription	Esophagus	oesophagus
22	chr8:107719800-107738200	Weak transcription	Ovary	ovary
23	chr8:107719800-107753800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:107720000-107738200	Weak transcription	HMEC	breast
25	chr8:107720600-107738200	Weak transcription	Aorta	Aorta
26	chr8:107720600-107738200	Weak transcription	Fetal Stomach	stomach
27	chr8:107720600-107738400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:107721200-107738200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:107723200-107738000	Weak transcription	K562	blood
30	chr8:107724000-107737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:107724000-107738000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:107724200-107738200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:107724200-107738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:107724200-107738200	Weak transcription	Fetal Thymus	thymus
35	chr8:107724200-107738200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:107724200-107738400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:107724400-107737800	Weak transcription	Brain Anterior Caudate	brain
38	chr8:107724400-107738000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:107724400-107738200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:107724400-107738200	Weak transcription	Fetal Intestine Large	intestine
41	chr8:107724400-107738200	Weak transcription	Fetal Lung	lung
42	chr8:107724400-107738200	Weak transcription	Placenta	Placenta
43	chr8:107724800-107738000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:107724800-107738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:107724800-107738200	Weak transcription	HSMM	muscle
46	chr8:107724800-107751400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:107725000-107738200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:107725000-107738200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:107727200-107738400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:107730200-107737200	Strong transcription	Primary monocytes fromperipheralblood	blood

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