Variant report

Variant	rs11164961
Chromosome Location	chr1:94145724-94145725
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	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
2	chr1:94144057..94145779-chr1:94248276..94250038,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000211575	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1011903	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1011904	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164962	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164963	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12057736	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12059154	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12079723	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084853	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12092517	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1567791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61781002	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541386	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541387	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6541388	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541389	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6656270	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6657709	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6660740	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6675484	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6684568	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6694536	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6701871	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6702036	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6704479	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7519952	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs955470	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9659100	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94138600-94145800	Weak transcription	Colonic Mucosa	Colon
2	chr1:94138600-94145800	Weak transcription	Fetal Stomach	stomach
3	chr1:94139200-94146000	Weak transcription	Liver	Liver
4	chr1:94140200-94146200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:94140400-94145800	Weak transcription	Esophagus	oesophagus
6	chr1:94141000-94146200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:94141200-94146000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:94141400-94145800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:94141400-94146200	Weak transcription	Aorta	Aorta
10	chr1:94142200-94145800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:94142400-94145800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:94142400-94145800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:94142400-94145800	Weak transcription	Primary B cells from cord blood	blood
14	chr1:94142400-94145800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:94142400-94146000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:94142400-94146000	Weak transcription	Pancreas	Pancrea
17	chr1:94142600-94145800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:94143000-94146000	Weak transcription	Spleen	Spleen
19	chr1:94143200-94145800	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:94143200-94145800	Weak transcription	Right Ventricle	heart
21	chr1:94143200-94145800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:94143400-94145800	Weak transcription	Lung	lung
23	chr1:94143400-94146000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:94143600-94145800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:94143800-94145800	Enhancers	Fetal Intestine Large	intestine
26	chr1:94143800-94146200	Transcr. at gene 5' and 3'	HMEC	breast
27	chr1:94143800-94146600	Transcr. at gene 5' and 3'	NHEK	skin
28	chr1:94144000-94145800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:94144000-94146000	Enhancers	Fetal Intestine Small	intestine
30	chr1:94144200-94145800	Enhancers	Fetal Muscle Leg	muscle
31	chr1:94144200-94145800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:94144200-94145800	Transcr. at gene 5' and 3'	Hela-S3	cervix
33	chr1:94144200-94145800	Enhancers	HepG2	liver
34	chr1:94144400-94145800	Active TSS	Psoas Muscle	Psoas
35	chr1:94144400-94146400	Flanking Active TSS	HUVEC	blood vessel
36	chr1:94144400-94148200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:94144600-94146000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:94144600-94146000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:94144600-94146200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:94144600-94148400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:94144800-94145800	Active TSS	GM12878-XiMat	blood
42	chr1:94144800-94146000	Enhancers	Fetal Lung	lung
43	chr1:94144800-94146200	Weak transcription	Small Intestine	intestine
44	chr1:94144800-94146400	Flanking Active TSS	NHLF	lung
45	chr1:94144800-94146400	Flanking Active TSS	Osteobl	bone
46	chr1:94145000-94145800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:94145000-94145800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:94145000-94145800	Enhancers	Left Ventricle	heart
49	chr1:94145000-94146000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:94145000-94146400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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