Variant report

Variant	rs2904966
Chromosome Location	chr11:65090727-65090728
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: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1152611	0.83[ASN][1000 genomes]
rs1783486	0.85[GIH][hapmap]
rs1858783	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs239261	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs28781278	0.86[ASN][1000 genomes]
rs2904967	1.00[CHB][hapmap];0.88[GIH][hapmap]
rs2904979	0.88[CEU][hapmap];0.97[GIH][hapmap]
rs2904980	0.85[GIH][hapmap]
rs2904981	0.85[CEU][hapmap]
rs2904982	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs2957111	0.81[AMR][1000 genomes]
rs3015997	0.88[CEU][hapmap];0.94[GIH][hapmap]
rs3016000	0.83[ASN][1000 genomes]
rs3741386	1.00[CHB][hapmap]
rs482842	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs487397	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs487568	0.83[ASN][1000 genomes]
rs487989	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs488289	0.83[ASN][1000 genomes]
rs503277	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs506280	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs507005	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs509303	1.00[CHB][hapmap];0.87[GIH][hapmap];0.83[ASN][1000 genomes]
rs526502	1.00[CHB][hapmap];0.85[GIH][hapmap]
rs542142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551523	1.00[CHB][hapmap]
rs554122	1.00[CHB][hapmap];0.88[GIH][hapmap]
rs560097	1.00[CHB][hapmap];0.84[GIH][hapmap];0.83[ASN][1000 genomes]
rs586768	0.91[LWK][hapmap]
rs592050	1.00[CHB][hapmap]
rs603286	0.83[ASN][1000 genomes]
rs611910	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs612392	1.00[CEU][hapmap];0.92[LWK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs620427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs626555	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs626802	1.00[CHB][hapmap];0.88[GIH][hapmap]
rs630055	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs636928	0.97[ASN][1000 genomes]
rs650056	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs655433	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6591180	1.00[YRI][hapmap]
rs667341	1.00[CHB][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs668735	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs673147	1.00[CHB][hapmap];0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs676114	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676573	1.00[CHB][hapmap]
rs689288	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs7116674	0.81[GIH][hapmap];0.83[LWK][hapmap];0.91[YRI][hapmap]
rs8638	1.00[CHB][hapmap];0.83[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	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	chr11:65085000-65100800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:65085200-65091400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:65085200-65097200	Weak transcription	Stomach Mucosa	stomach
7	chr11:65085200-65101000	Weak transcription	Fetal Kidney	kidney
8	chr11:65085400-65097000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:65085800-65091800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:65085800-65101000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:65086200-65092200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:65086800-65091000	Strong transcription	Osteobl	bone
13	chr11:65086800-65091600	Strong transcription	Fetal Intestine Small	intestine
14	chr11:65086800-65092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:65087000-65091600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:65087400-65091400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:65088000-65091000	Strong transcription	HMEC	breast
18	chr11:65088800-65101000	Weak transcription	Right Atrium	heart
19	chr11:65089200-65101000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:65089400-65101200	Weak transcription	Small Intestine	intestine
21	chr11:65089600-65096800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:65089800-65091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:65089800-65091400	Strong transcription	Lung	lung
24	chr11:65089800-65091400	Weak transcription	Ovary	ovary
25	chr11:65089800-65091400	Weak transcription	Pancreas	Pancrea
26	chr11:65089800-65091800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:65089800-65092600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:65089800-65094800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:65089800-65097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:65089800-65100800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:65089800-65101000	Weak transcription	Liver	Liver
32	chr11:65089800-65101000	Weak transcription	Esophagus	oesophagus
33	chr11:65090000-65091600	Strong transcription	NHDF-Ad	bronchial
34	chr11:65090000-65091800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:65090000-65095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:65090000-65096800	Weak transcription	HepG2	liver
37	chr11:65090000-65097000	Weak transcription	Brain Anterior Caudate	brain
38	chr11:65090000-65097200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:65090000-65097200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:65090000-65101000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:65090000-65101000	Weak transcription	Brain Substantia Nigra	brain
42	chr11:65090000-65101000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:65090200-65091600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:65090200-65091800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:65090200-65091800	Strong transcription	NHLF	lung
46	chr11:65090200-65096600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:65090200-65096800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:65090200-65097000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:65090200-65097000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:65090200-65097000	Weak transcription	Colon Smooth Muscle	Colon

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