Variant report

Variant	rs4149847
Chromosome Location	chr11:65090342-65090343
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr11:65089338..65091881-chr11:65095674..65098438,2	K562	blood:
5	chr11:65080778..65084410-chr11:65089814..65094122,5	K562	blood:
6	chr11:65076293..65078111-chr11:65089035..65091172,2	K562	blood:
7	chr11:65087982..65090864-chr11:65100563..65103584,4	MCF-7	breast:
8	chr11:65088058..65090877-chr11:65123140..65125273,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133884	Chromatin interaction
ENSG00000149798	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs3218610	1.00[YRI][hapmap]
rs58175858	0.94[AFR][1000 genomes]
rs60560944	0.94[AFR][1000 genomes]
rs73482232	0.94[AFR][1000 genomes]
rs73482946	0.83[AFR][1000 genomes]
rs73482948	0.83[AFR][1000 genomes]
rs73482966	0.88[AFR][1000 genomes]
rs73482968	0.88[AFR][1000 genomes]
rs73482973	0.94[AFR][1000 genomes]
rs73482979	0.94[AFR][1000 genomes]
rs73484946	0.94[AFR][1000 genomes]
rs73484983	0.94[AFR][1000 genomes]
rs73484993	0.94[AFR][1000 genomes]
rs7942977	0.83[YRI][hapmap]

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:98 , 50 per page) page: 1 2

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	chr11:65085200-65091400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:65085200-65097200	Weak transcription	Stomach Mucosa	stomach
8	chr11:65085200-65101000	Weak transcription	Fetal Kidney	kidney
9	chr11:65085400-65097000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:65085800-65091800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:65085800-65101000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:65086200-65092200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:65086400-65090400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:65086400-65090400	Strong transcription	NHEK	skin
15	chr11:65086600-65090400	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr11:65086800-65090400	Genic enhancers	Fetal Stomach	stomach
17	chr11:65086800-65091000	Strong transcription	Osteobl	bone
18	chr11:65086800-65091600	Strong transcription	Fetal Intestine Small	intestine
19	chr11:65086800-65092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:65087000-65090400	Genic enhancers	Adipose Nuclei	Adipose
21	chr11:65087000-65090400	Strong transcription	Gastric	stomach
22	chr11:65087000-65090600	Strong transcription	HSMMtube	muscle
23	chr11:65087000-65091600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:65087200-65090400	Strong transcription	Fetal Intestine Large	intestine
25	chr11:65087200-65090400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:65087400-65090400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:65087400-65090400	Strong transcription	Hela-S3	cervix
28	chr11:65087400-65090400	Strong transcription	HUVEC	blood vessel
29	chr11:65087400-65090600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr11:65087400-65091400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:65087800-65090400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:65087800-65090400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:65087800-65090400	Strong transcription	HSMM	muscle
34	chr11:65088000-65090400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:65088000-65090400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:65088000-65090400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:65088000-65090400	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:65088000-65090400	Genic enhancers	Right Ventricle	heart
39	chr11:65088000-65090400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:65088000-65091000	Strong transcription	HMEC	breast
41	chr11:65088200-65090400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:65088200-65090400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:65088200-65090400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:65088200-65090400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:65088200-65090400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:65088200-65090400	Genic enhancers	Duodenum Mucosa	Duodenum
47	chr11:65088200-65090400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:65088200-65090400	Strong transcription	A549	lung
49	chr11:65088800-65101000	Weak transcription	Right Atrium	heart
50	chr11:65089200-65101000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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