Variant report

Variant	rs11676086
Chromosome Location	chr2:11892997-11892998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11798417..11800277-chr2:11891878..11893871,2	K562	blood:
2	chr2:11886095..11889149-chr2:11892372..11895802,5	MCF-7	breast:
3	chr2:11892034..11894418-chr2:11895630..11897983,2	K562	blood:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1006538	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10169802	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10192566	0.99[ASN][1000 genomes]
rs10205312	0.89[ASN][1000 genomes]
rs10205400	0.88[ASN][1000 genomes]
rs10207506	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208679	1.00[ASN][1000 genomes]
rs10209969	0.92[ASN][1000 genomes]
rs11693809	0.99[ASN][1000 genomes]
rs11897144	0.90[ASN][1000 genomes]
rs13407101	0.94[ASN][1000 genomes]
rs13409154	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412852	0.90[ASN][1000 genomes]
rs1469952	0.84[ASN][1000 genomes]
rs2278513	0.84[ASN][1000 genomes]
rs2358041	0.90[ASN][1000 genomes]
rs2358042	0.90[ASN][1000 genomes]
rs4076055	0.99[ASN][1000 genomes]
rs4315495	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669778	0.83[ASN][1000 genomes]
rs62113306	0.96[ASN][1000 genomes]
rs6717910	0.85[ASN][1000 genomes]
rs6731096	0.96[ASN][1000 genomes]
rs72773994	0.92[ASN][1000 genomes]
rs7595221	0.93[ASN][1000 genomes]
rs873358	1.00[ASN][1000 genomes]
rs893342	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11887800-11894000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:11888400-11893000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:11888400-11893200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:11888400-11893600	Weak transcription	HSMM	muscle
5	chr2:11888400-11895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:11888600-11893000	Weak transcription	Fetal Lung	lung
8	chr2:11888600-11893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11888600-11893600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:11888600-11894000	Enhancers	Brain Anterior Caudate	brain
11	chr2:11889000-11893200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:11889200-11893000	Weak transcription	A549	lung
13	chr2:11889200-11893600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:11889200-11894200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:11889400-11893600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:11889400-11894400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:11889600-11893000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:11889600-11893000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:11889600-11893200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:11889600-11893600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:11889600-11893800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:11889800-11893000	Weak transcription	Gastric	stomach
23	chr2:11889800-11893600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr2:11890000-11893000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:11890000-11893400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:11890000-11894000	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:11890400-11893000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:11890400-11893000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:11890400-11893000	Weak transcription	Spleen	Spleen
30	chr2:11890400-11893400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:11890400-11893600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:11890400-11893600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:11890400-11893600	Weak transcription	Right Atrium	heart
34	chr2:11890400-11906400	Weak transcription	Fetal Brain Male	brain
35	chr2:11890600-11893000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:11890600-11893000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:11890600-11893000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:11890600-11893600	Weak transcription	Fetal Brain Female	brain
39	chr2:11890600-11898600	Weak transcription	HepG2	liver
40	chr2:11890600-11905800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:11890800-11893000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:11890800-11895600	Enhancers	Psoas Muscle	Psoas
43	chr2:11891000-11893000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:11891000-11893000	Weak transcription	NHLF	lung
45	chr2:11891000-11893200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:11891000-11895200	Enhancers	HMEC	breast
47	chr2:11891200-11893000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:11891200-11893000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:11891200-11893000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:11891200-11893000	Weak transcription	Brain Cingulate Gyrus	brain

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