Variant report

Variant	rs34104132
Chromosome Location	chr11:102232160-102232161
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:102231836-102232306	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:102231605-102232659	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:102231802-102232627	GM12892	blood:	n/a	n/a
4	RUNX3	chr11:102232142-102232649	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:102231520-102232705	GM12892	blood:	n/a	n/a
6	CTCF	chr11:102232120-102232270	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:102231732-102232631	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:102231761-102232832	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:102231730-102232590	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:102231681-102232620	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:102231575-102232719	GM12892	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102225214..102227946-chr11:102230346..102233132,3	K562	blood:
2	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:
3	chr11:102225214..102228493-chr11:102230346..102233413,3	K562	blood:

No data

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10219215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1058606	1.00[ASN][1000 genomes]
rs10895292	1.00[ASN][1000 genomes]
rs11225219	0.86[AFR][1000 genomes]
rs11225222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225223	0.91[AFR][1000 genomes]
rs11225229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225235	1.00[ASN][1000 genomes]
rs11225236	1.00[ASN][1000 genomes]
rs11225237	1.00[ASN][1000 genomes]
rs11225251	1.00[ASN][1000 genomes]
rs11501342	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11501343	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11501344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547915	1.00[ASN][1000 genomes]
rs11547916	1.00[ASN][1000 genomes]
rs11601671	1.00[ASN][1000 genomes]
rs11603677	1.00[ASN][1000 genomes]
rs11604008	1.00[ASN][1000 genomes]
rs11604189	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11604271	1.00[ASN][1000 genomes]
rs11605010	1.00[ASN][1000 genomes]
rs11605066	1.00[ASN][1000 genomes]
rs11605087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605133	1.00[ASN][1000 genomes]
rs11605573	1.00[ASN][1000 genomes]
rs11605915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607657	1.00[ASN][1000 genomes]
rs11607908	1.00[ASN][1000 genomes]
rs12269847	1.00[ASN][1000 genomes]
rs12270109	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271457	1.00[ASN][1000 genomes]
rs12273698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274405	1.00[ASN][1000 genomes]
rs12275185	1.00[ASN][1000 genomes]
rs12275349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277594	1.00[ASN][1000 genomes]
rs12277853	1.00[ASN][1000 genomes]
rs12279056	1.00[ASN][1000 genomes]
rs12282486	1.00[ASN][1000 genomes]
rs12283885	1.00[ASN][1000 genomes]
rs12290033	1.00[ASN][1000 genomes]
rs12291114	1.00[ASN][1000 genomes]
rs12293834	1.00[ASN][1000 genomes]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1290044	1.00[ASN][1000 genomes]
rs1318199	1.00[ASN][1000 genomes]
rs13377311	1.00[ASN][1000 genomes]
rs1574410	1.00[ASN][1000 genomes]
rs17349689	1.00[ASN][1000 genomes]
rs17350205	1.00[ASN][1000 genomes]
rs1943781	1.00[ASN][1000 genomes]
rs2510491	1.00[ASN][1000 genomes]
rs34296997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34740624	1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35623064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35972941	1.00[ASN][1000 genomes]
rs484068	1.00[ASN][1000 genomes]
rs485020	1.00[ASN][1000 genomes]
rs525305	1.00[ASN][1000 genomes]
rs531350	1.00[ASN][1000 genomes]
rs57346058	1.00[ASN][1000 genomes]
rs57562739	1.00[ASN][1000 genomes]
rs577850	1.00[ASN][1000 genomes]
rs58250524	1.00[ASN][1000 genomes]
rs61123589	1.00[ASN][1000 genomes]
rs61334418	1.00[ASN][1000 genomes]
rs61895370	1.00[ASN][1000 genomes]
rs61895375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637708	1.00[ASN][1000 genomes]
rs670334	1.00[ASN][1000 genomes]
rs7104841	1.00[ASN][1000 genomes]
rs7113906	1.00[ASN][1000 genomes]
rs7114048	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102219200-102234400	Weak transcription	Psoas Muscle	Psoas
2	chr11:102219200-102234600	Weak transcription	Ovary	ovary
3	chr11:102219200-102238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:102219200-102239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
6	chr11:102220800-102240000	Strong transcription	Liver	Liver
7	chr11:102221200-102239800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:102221400-102233200	Weak transcription	HSMMtube	muscle
9	chr11:102222200-102234600	Weak transcription	K562	blood
10	chr11:102223800-102239800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
12	chr11:102227800-102239800	Strong transcription	Placenta	Placenta
13	chr11:102228200-102235200	Weak transcription	Fetal Brain Male	brain
14	chr11:102228800-102232600	Strong transcription	HSMM	muscle
15	chr11:102228800-102232800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:102228800-102233000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:102228800-102233000	Strong transcription	NH-A	brain
18	chr11:102228800-102239800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:102228800-102239800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:102228800-102239800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:102228800-102240000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:102229000-102239800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:102229200-102232200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:102229200-102232800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:102229400-102232200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:102229400-102232600	Strong transcription	Brain Anterior Caudate	brain
27	chr11:102229400-102236400	Strong transcription	HMEC	breast
28	chr11:102229400-102239600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr11:102229400-102239800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:102229400-102239800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr11:102229400-102239800	Strong transcription	Osteobl	bone
32	chr11:102229600-102232200	Strong transcription	Primary B cells from cord blood	blood
33	chr11:102229600-102232400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:102229600-102232600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:102229600-102237800	Strong transcription	HUVEC	blood vessel
36	chr11:102229600-102239800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:102229600-102239800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:102229800-102239800	Strong transcription	Adipose Nuclei	Adipose
39	chr11:102230000-102232600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:102230200-102232600	Strong transcription	Rectal Smooth Muscle	rectum
41	chr11:102230200-102237200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:102230200-102239800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:102230400-102232600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:102230400-102232600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr11:102230400-102232600	Strong transcription	Brain Hippocampus Middle	brain
46	chr11:102230400-102232600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr11:102230400-102232800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:102230400-102233400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr11:102230400-102236000	Weak transcription	Small Intestine	intestine
50	chr11:102230400-102236800	Strong transcription	Fetal Lung	lung

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