Variant report

Variant	rs12225302
Chromosome Location	chr11:66601092-66601093
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66459547..66465432-chr11:66599355..66603296,9	MCF-7	breast:
2	chr11:66466709..66469416-chr11:66599980..66602428,2	MCF-7	breast:
3	chr11:66457750..66467271-chr11:66598332..66608447,16	K562	blood:
4	chr11:66450885..66452663-chr11:66600474..66602578,2	MCF-7	breast:
5	chr11:66461759..66462938-chr11:66600504..66602873,21	MCF-7	breast:
6	chr11:66490952..66495603-chr11:66599430..66602599,5	MCF-7	breast:
7	chr11:66600847..66602669-chr11:66650829..66652399,2	MCF-7	breast:
8	chr11:66407180..66409474-chr11:66600961..66602936,2	K562	blood:
9	chr11:66247103..66249463-chr11:66600270..66602077,2	MCF-7	breast:
10	chr11:66443786..66447111-chr11:66599587..66602502,4	K562	blood:
11	chr11:66454559..66456456-chr11:66598595..66601403,2	MCF-7	breast:
12	chr11:66412034..66414807-chr11:66600460..66602396,2	MCF-7	breast:
13	chr11:66595690..66597317-chr11:66600394..66603185,2	MCF-7	breast:
14	chr11:66461004..66463732-chr11:66600353..66604002,4	K562	blood:
15	chr11:66600602..66603038-chr11:66798482..66800239,2	MCF-7	breast:
16	chr11:66443901..66447111-chr11:66599621..66602502,3	K562	blood:
17	chr11:66464508..66466758-chr11:66598439..66601395,2	K562	blood:
18	chr11:66578493..66580917-chr11:66600388..66602985,2	K562	blood:
19	chr11:66460828..66465487-chr11:66600237..66603918,6	MCF-7	breast:
20	chr11:66412976..66415260-chr11:66600626..66602387,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173914	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000255517	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11227554	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs11227560	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs11227562	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11227574	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs11227587	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11227591	0.92[ASN][1000 genomes]
rs11227600	0.94[ASN][1000 genomes]
rs11227601	0.94[ASN][1000 genomes]
rs2276136	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7932018	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	70 gene(s)	inside rSNPs	diseases
6	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66513400-66606800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:66530000-66605400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:66544000-66609600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:66554600-66605800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:66556200-66603000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:66556800-66607400	Weak transcription	Fetal Lung	lung
7	chr11:66560400-66605400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:66561600-66609400	Weak transcription	Colonic Mucosa	Colon
9	chr11:66565000-66605400	Weak transcription	Gastric	stomach
10	chr11:66567000-66601600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:66567000-66606800	Weak transcription	Brain Anterior Caudate	brain
12	chr11:66567000-66609800	Weak transcription	Ovary	ovary
13	chr11:66568000-66609400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:66568800-66609600	Weak transcription	Fetal Kidney	kidney
15	chr11:66570000-66605400	Weak transcription	HSMMtube	muscle
16	chr11:66570000-66606800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:66571000-66609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:66571600-66609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:66571800-66605400	Weak transcription	Lung	lung
20	chr11:66572000-66606600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:66572000-66609200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:66576000-66605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:66576000-66609600	Weak transcription	Esophagus	oesophagus
24	chr11:66576000-66609800	Weak transcription	Aorta	Aorta
25	chr11:66576200-66605200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:66577000-66609400	Weak transcription	Small Intestine	intestine
27	chr11:66580600-66606600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:66580800-66609600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:66581200-66609800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:66583200-66605200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:66583400-66601400	Weak transcription	Hela-S3	cervix
32	chr11:66583400-66609200	Weak transcription	NH-A	brain
33	chr11:66583600-66603000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:66583600-66603000	Weak transcription	NHDF-Ad	bronchial
35	chr11:66583800-66602000	Weak transcription	HUVEC	blood vessel
36	chr11:66583800-66605200	Weak transcription	NHEK	skin
37	chr11:66585200-66609000	Weak transcription	HepG2	liver
38	chr11:66586800-66606600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:66588000-66605400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:66588200-66601400	Weak transcription	Osteobl	bone
41	chr11:66588200-66605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:66588600-66605200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:66590200-66605200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:66590600-66609200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:66591000-66605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:66591600-66601800	Weak transcription	K562	blood
47	chr11:66591600-66606400	Weak transcription	GM12878-XiMat	blood
48	chr11:66593600-66603000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:66594000-66605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:66594000-66605400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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