Variant report

Variant	rs11265634
Chromosome Location	chr1:154522248-154522249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154521096-154522544	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:154521573-154522406	K562	blood:	n/a	n/a
3	POLR2A	chr1:154521596-154522398	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:154521409-154522485	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154521062..154522565-chr1:154552295..154555132,2	K562	blood:
2	chr1:154457195..154459578-chr1:154521193..154523267,2	MCF-7	breast:
3	chr1:154450895..154452551-chr1:154521385..154523555,2	K562	blood:
4	chr1:154450895..154452428-chr1:154521385..154523605,2	K562	blood:
5	chr1:154505752..154507416-chr1:154519791..154523033,3	MCF-7	breast:

No data

Variant related genes	Relation type
UBE2Q1-AS1	TF binding region
ENSG00000169291	Chromatin interaction
ENSG00000273110	Chromatin interaction
ENSG00000163239	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10752642	0.91[EUR][1000 genomes]
rs10752643	0.93[EUR][1000 genomes]
rs10908844	0.93[EUR][1000 genomes]
rs10908846	0.93[EUR][1000 genomes]
rs11265627	0.90[EUR][1000 genomes]
rs11265629	0.85[EUR][1000 genomes]
rs11265632	0.81[AFR][1000 genomes]
rs12037271	0.83[AFR][1000 genomes]
rs12118074	0.91[EUR][1000 genomes]
rs12124333	0.91[EUR][1000 genomes]
rs12136771	0.81[AFR][1000 genomes]
rs12407048	0.81[AFR][1000 genomes]
rs14021	0.88[EUR][1000 genomes]
rs16836054	0.90[EUR][1000 genomes]
rs4074436	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs41302545	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4131514	0.93[EUR][1000 genomes]
rs4269769	0.93[EUR][1000 genomes]
rs4288587	0.93[EUR][1000 genomes]
rs4307559	0.88[EUR][1000 genomes]
rs4474240	0.91[EUR][1000 genomes]
rs4518898	0.93[EUR][1000 genomes]
rs4575077	0.93[EUR][1000 genomes]
rs4585969	0.93[EUR][1000 genomes]
rs4845634	0.90[EUR][1000 genomes]
rs4845635	0.91[EUR][1000 genomes]
rs4845636	0.91[EUR][1000 genomes]
rs4845640	0.93[EUR][1000 genomes]
rs4845641	0.93[EUR][1000 genomes]
rs4845643	0.87[EUR][1000 genomes]
rs4845644	0.92[EUR][1000 genomes]
rs4845648	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4845649	0.86[AFR][1000 genomes]
rs56047170	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56233546	0.90[EUR][1000 genomes]
rs61811362	0.92[EUR][1000 genomes]
rs61812631	0.90[EUR][1000 genomes]
rs61812654	0.92[EUR][1000 genomes]
rs6427716	0.93[EUR][1000 genomes]
rs6427720	0.88[EUR][1000 genomes]
rs6427722	0.93[EUR][1000 genomes]
rs6427724	0.88[EUR][1000 genomes]
rs6656395	0.93[EUR][1000 genomes]
rs6662503	0.90[EUR][1000 genomes]
rs6670375	0.93[EUR][1000 genomes]
rs6687112	0.93[EUR][1000 genomes]
rs6689710	0.84[EUR][1000 genomes]
rs6691727	0.93[EUR][1000 genomes]
rs6696177	0.86[EUR][1000 genomes]
rs6697103	0.93[EUR][1000 genomes]
rs6697115	0.93[EUR][1000 genomes]
rs6701586	0.93[EUR][1000 genomes]
rs6703672	0.83[EUR][1000 genomes]
rs72698167	0.90[EUR][1000 genomes]
rs7513603	0.91[EUR][1000 genomes]
rs7526247	0.86[EUR][1000 genomes]
rs7539745	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7543174	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7550664	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7553602	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9427076	0.92[EUR][1000 genomes]
rs9427082	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9427415	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154513600-154528400	Weak transcription	Right Atrium	heart
2	chr1:154517600-154523600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:154518000-154526000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:154519000-154522600	Enhancers	Stomach Mucosa	stomach
5	chr1:154520000-154522600	Weak transcription	Small Intestine	intestine
6	chr1:154520000-154528200	Strong transcription	Placenta	Placenta
7	chr1:154520200-154522400	Weak transcription	Fetal Kidney	kidney
8	chr1:154520400-154523400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:154520600-154522800	Genic enhancers	Brain Germinal Matrix	brain
10	chr1:154520600-154523200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:154520600-154528400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:154520600-154528800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:154520600-154528800	Strong transcription	Primary T cells from cord blood	blood
14	chr1:154520800-154528400	Strong transcription	Adipose Nuclei	Adipose
15	chr1:154520800-154528400	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr1:154520800-154528600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:154520800-154528800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:154521000-154522400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:154521000-154522400	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:154521000-154528200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:154521000-154528200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:154521000-154528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:154521000-154528600	Strong transcription	Fetal Thymus	thymus
24	chr1:154521200-154522600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:154521200-154522600	Genic enhancers	Fetal Brain Female	brain
26	chr1:154521200-154522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:154521200-154523600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:154521200-154523600	Genic enhancers	Dnd41	blood
29	chr1:154521200-154525000	Strong transcription	HMEC	breast
30	chr1:154521200-154525200	Strong transcription	Psoas Muscle	Psoas
31	chr1:154521200-154525200	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:154521200-154525400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:154521200-154525800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:154521200-154526000	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:154521200-154526200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:154521200-154526200	Strong transcription	NHEK	skin
37	chr1:154521200-154527800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:154521200-154528200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr1:154521200-154528200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:154521200-154528400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:154521200-154528400	Strong transcription	Primary B cells from cord blood	blood
42	chr1:154521200-154528400	Strong transcription	Brain Anterior Caudate	brain
43	chr1:154521200-154528400	Strong transcription	Brain Hippocampus Middle	brain
44	chr1:154521200-154528400	Strong transcription	HUVEC	blood vessel
45	chr1:154521200-154528400	Strong transcription	NH-A	brain
46	chr1:154521200-154528600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:154521200-154528600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:154521200-154528600	Strong transcription	HSMM	muscle
49	chr1:154521200-154528800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:154521200-154528800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links