Variant report

Variant	rs2269224
Chromosome Location	chr11:65103378-65103379
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65081631..65084592-chr11:65099872..65104597,5	K562	blood:
2	chr11:65101646..65104320-chr11:65195923..65197643,2	K562	blood:
3	chr11:65099781..65103974-chr11:65120675..65126515,7	MCF-7	breast:
4	chr11:65100243..65104610-chr11:65105410..65109851,8	K562	blood:
5	chr11:65100635..65103447-chr11:65112370..65113916,2	K562	blood:
6	chr11:65101528..65104353-chr11:65197990..65200376,2	K562	blood:
7	chr11:65099880..65103900-chr11:65265146..65267934,3	MCF-7	breast:
8	chr11:65100322..65103953-chr11:65104304..65109119,7	MCF-7	breast:
9	chr11:65102149..65103973-chr11:65118677..65120435,2	MCF-7	breast:
10	chr11:65077010..65079617-chr11:65101633..65103467,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133884	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000149798	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2307266	1.00[ASN][1000 genomes]
rs4647576	1.00[ASN][1000 genomes]
rs4647587	1.00[ASN][1000 genomes]
rs60763559	1.00[ASN][1000 genomes]
rs60933608	1.00[ASN][1000 genomes]
rs61732319	1.00[ASN][1000 genomes]
rs61736579	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7127811	1.00[ASN][1000 genomes]
rs73482271	1.00[ASN][1000 genomes]
rs7947014	1.00[ASN][1000 genomes]
rs7950149	1.00[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	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	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
5	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65102200-65104000	Enhancers	Spleen	Spleen
2	chr11:65102200-65105800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:65102400-65105800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:65102400-65105800	Weak transcription	Lung	lung
5	chr11:65102400-65107600	Weak transcription	Pancreas	Pancrea
6	chr11:65102400-65107800	Weak transcription	Esophagus	oesophagus
7	chr11:65102600-65103400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr11:65102600-65103600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:65102600-65103600	Enhancers	Left Ventricle	heart
10	chr11:65102600-65104000	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:65102600-65107400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:65102600-65107800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:65102600-65107800	Weak transcription	Aorta	Aorta
14	chr11:65102600-65108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:65102800-65103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:65102800-65103400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65102800-65103400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:65102800-65103400	Active TSS	Brain Germinal Matrix	brain
19	chr11:65102800-65103400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:65102800-65103400	Genic enhancers	Fetal Muscle Leg	muscle
21	chr11:65102800-65103400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr11:65102800-65105400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:65102800-65105600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:65102800-65105800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:65102800-65107200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:65103000-65103400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:65103000-65103400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:65103000-65103400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:65103000-65103400	Enhancers	Brain Hippocampus Middle	brain
30	chr11:65103000-65103400	Enhancers	Fetal Brain Male	brain
31	chr11:65103000-65103400	Enhancers	Fetal Brain Female	brain
32	chr11:65103000-65103400	Enhancers	Fetal Thymus	thymus
33	chr11:65103000-65103400	Enhancers	Thymus	Thymus
34	chr11:65103000-65103800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr11:65103000-65105600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:65103000-65105600	Weak transcription	Gastric	stomach
37	chr11:65103000-65105800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:65103000-65105800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:65103000-65105800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:65103000-65105800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:65103000-65105800	Weak transcription	Fetal Heart	heart
42	chr11:65103000-65105800	Weak transcription	Placenta	Placenta
43	chr11:65103000-65105800	Weak transcription	Right Atrium	heart
44	chr11:65103000-65105800	Weak transcription	Right Ventricle	heart
45	chr11:65103000-65105800	Weak transcription	A549	lung
46	chr11:65103000-65106000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:65103000-65106000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr11:65103000-65106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:65103000-65107600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:65103000-65107800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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