Variant report

Variant	rs12067077
Chromosome Location	chr1:84953765-84953766
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84953201..84955322-chr1:85035250..85039258,3	K562	blood:
2	chr1:84951639..84954302-chr1:85038478..85040171,2	K562	blood:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10874450	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11163977	1.00[CEU][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11163978	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11163983	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11163984	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11163989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11163995	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11163997	1.00[EUR][1000 genomes]
rs11163998	0.91[YRI][hapmap]
rs12075688	0.90[YRI][hapmap]
rs12077012	1.00[EUR][1000 genomes]
rs12092954	0.82[EUR][1000 genomes]
rs12093101	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12125825	1.00[CEU][hapmap]
rs12129197	1.00[CEU][hapmap]
rs12134893	0.95[EUR][1000 genomes]
rs12137560	0.95[EUR][1000 genomes]
rs12141175	1.00[CEU][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12144912	0.95[EUR][1000 genomes]
rs1803276	0.90[YRI][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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84946000-84956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:84946000-84956400	Weak transcription	Gastric	stomach
3	chr1:84946000-84956400	Weak transcription	Spleen	Spleen
4	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
7	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:84946200-84955200	Weak transcription	Right Ventricle	heart
10	chr1:84946200-84956200	Weak transcription	Colonic Mucosa	Colon
11	chr1:84946200-84962800	Weak transcription	HSMMtube	muscle
12	chr1:84946400-84955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:84946400-84955600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:84946400-84956200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:84946400-84956400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:84946400-84962000	Weak transcription	Fetal Brain Male	brain
17	chr1:84946400-84962800	Weak transcription	Stomach Mucosa	stomach
18	chr1:84946600-84955600	Weak transcription	Brain Germinal Matrix	brain
19	chr1:84946600-84956400	Weak transcription	Psoas Muscle	Psoas
20	chr1:84946800-84955400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:84946800-84967400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:84947000-84965800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:84947200-84953800	Strong transcription	Primary B cells from cord blood	blood
24	chr1:84947200-84955400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:84947200-84955600	Weak transcription	Pancreas	Pancrea
26	chr1:84947200-84955600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:84947200-84956400	Weak transcription	Brain Angular Gyrus	brain
28	chr1:84947200-84956400	Weak transcription	NHLF	lung
29	chr1:84947200-84958400	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:84947400-84955000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:84947400-84955200	Weak transcription	Ovary	ovary
32	chr1:84947400-84955200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:84947400-84955200	Weak transcription	Small Intestine	intestine
34	chr1:84947400-84955800	Weak transcription	HMEC	breast
35	chr1:84947400-84957200	Weak transcription	Fetal Heart	heart
36	chr1:84947400-84957600	Weak transcription	Lung	lung
37	chr1:84947400-84969800	Weak transcription	Aorta	Aorta
38	chr1:84947800-84966000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:84947800-84967800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:84948200-84956400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:84948400-84955000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:84948400-84955200	Weak transcription	Brain Substantia Nigra	brain
43	chr1:84949600-84954400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:84949600-84968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:84949800-84954800	Weak transcription	NHEK	skin
46	chr1:84949800-84955000	Weak transcription	K562	blood
47	chr1:84949800-84955200	Weak transcription	Osteobl	bone
48	chr1:84949800-84955600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:84949800-84962000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:84950000-84955200	Weak transcription	Fetal Kidney	kidney

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