Variant report

Variant	rs4149845
Chromosome Location	chr11:65089754-65089755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65089150..65091155-chr11:65191102..65193583,2	K562	blood:
2	chr11:65051836..65054678-chr11:65088837..65091489,2	K562	blood:
3	chr11:65058796..65060514-chr11:65089215..65091346,2	MCF-7	breast:
4	chr11:65085057..65089903-chr11:65095302..65099017,4	MCF-7	breast:
5	chr11:65089338..65091881-chr11:65095674..65098438,2	K562	blood:
6	chr11:65044236..65045803-chr11:65087151..65090108,2	MCF-7	breast:
7	chr11:65076293..65078111-chr11:65089035..65091172,2	K562	blood:
8	chr11:65088379..65090119-chr11:65098305..65101245,2	MCF-7	breast:
9	chr11:65087982..65090864-chr11:65100563..65103584,4	MCF-7	breast:
10	chr11:65088021..65090246-chr11:65101198..65103196,2	K562	blood:
11	chr11:65088058..65090877-chr11:65123140..65125273,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133884	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17883382	1.00[AMR][1000 genomes]
rs17887152	1.00[AMR][1000 genomes]
rs34032604	1.00[AMR][1000 genomes]
rs34713603	1.00[AMR][1000 genomes]
rs34997862	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4149815	1.00[YRI][hapmap]
rs41541317	1.00[AMR][1000 genomes]
rs4647578	1.00[AMR][1000 genomes]
rs71541944	1.00[AMR][1000 genomes]
rs9333580	1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897714	chr11:65076918-65091609	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
6	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65083200-65093400	Weak transcription	Aorta	Aorta
2	chr11:65083600-65096600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:65083800-65096600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:65085000-65090400	Genic enhancers	Fetal Muscle Leg	muscle
5	chr11:65085000-65100800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:65085200-65089800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:65085200-65090000	Weak transcription	K562	blood
8	chr11:65085200-65091400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:65085200-65097200	Weak transcription	Stomach Mucosa	stomach
10	chr11:65085200-65101000	Weak transcription	Fetal Kidney	kidney
11	chr11:65085400-65097000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:65085800-65091800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:65085800-65101000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:65086200-65092200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:65086400-65090400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:65086400-65090400	Strong transcription	NHEK	skin
17	chr11:65086600-65090400	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr11:65086800-65090000	Genic enhancers	Spleen	Spleen
19	chr11:65086800-65090200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:65086800-65090400	Genic enhancers	Fetal Stomach	stomach
21	chr11:65086800-65091000	Strong transcription	Osteobl	bone
22	chr11:65086800-65091600	Strong transcription	Fetal Intestine Small	intestine
23	chr11:65086800-65092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:65087000-65089800	Genic enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:65087000-65089800	Genic enhancers	Lung	lung
26	chr11:65087000-65090200	Genic enhancers	Brain Hippocampus Middle	brain
27	chr11:65087000-65090200	Genic enhancers	NHLF	lung
28	chr11:65087000-65090400	Genic enhancers	Adipose Nuclei	Adipose
29	chr11:65087000-65090400	Strong transcription	Gastric	stomach
30	chr11:65087000-65090600	Strong transcription	HSMMtube	muscle
31	chr11:65087000-65091600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:65087200-65090200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:65087200-65090200	Bivalent Enhancer	Placenta	Placenta
34	chr11:65087200-65090400	Strong transcription	Fetal Intestine Large	intestine
35	chr11:65087200-65090400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:65087400-65090400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:65087400-65090400	Strong transcription	Hela-S3	cervix
38	chr11:65087400-65090400	Strong transcription	HUVEC	blood vessel
39	chr11:65087400-65090600	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:65087400-65091400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:65087800-65090400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:65087800-65090400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:65087800-65090400	Strong transcription	HSMM	muscle
44	chr11:65088000-65089800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:65088000-65090000	Genic enhancers	Brain Angular Gyrus	brain
46	chr11:65088000-65090000	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr11:65088000-65090200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:65088000-65090200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:65088000-65090200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:65088000-65090200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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