Variant report

Variant	rs11080563
Chromosome Location	chr18:12271539-12271540
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12269344..12271800-chr18:12376297..12378247,3	K562	blood:
2	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:
3	chr17:7387282..7388176-chr18:12271509..12272128,2	Hela-S3	cervix:
4	chr18:12265032..12267863-chr18:12270238..12271917,4	K562	blood:
5	chr18:12265032..12267003-chr18:12270238..12271793,2	K562	blood:
6	chr18:12270234..12271756-chr18:12327004..12329574,2	MCF-7	breast:
7	chr18:12270328..12273534-chr18:12306877..12309950,3	K562	blood:
8	chr18:12270534..12272784-chr18:12301768..12304074,2	K562	blood:
9	chr18:12270340..12273321-chr18:12306765..12308912,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174282	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7505582	1.00[AMR][1000 genomes]
rs7506533	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12254600-12271600	Weak transcription	Right Atrium	heart
2	chr18:12271200-12271600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:12271200-12271600	Enhancers	Adipose Nuclei	Adipose
4	chr18:12271200-12271600	Enhancers	Fetal Muscle Leg	muscle
5	chr18:12271200-12272200	Active TSS	Hela-S3	cervix
6	chr18:12271400-12271600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr18:12271400-12271600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12271400-12271600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:12271400-12271600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:12271400-12271600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:12271400-12271600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:12271400-12271600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr18:12271400-12271600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:12271400-12271600	Bivalent Enhancer	Esophagus	oesophagus
15	chr18:12271400-12271600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr18:12271400-12271600	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr18:12271400-12271600	Enhancers	Fetal Thymus	thymus
18	chr18:12271400-12271600	Enhancers	Pancreas	Pancrea
19	chr18:12271400-12271600	Enhancers	Rectal Smooth Muscle	rectum
20	chr18:12271400-12271600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr18:12271400-12271600	Flanking Active TSS	A549	lung
22	chr18:12271400-12271600	Enhancers	Dnd41	blood
23	chr18:12271400-12271600	Enhancers	HMEC	breast
24	chr18:12271400-12271600	Enhancers	HUVEC	blood vessel
25	chr18:12271400-12271600	Flanking Active TSS	K562	blood
26	chr18:12271400-12271600	Enhancers	NHEK	skin
27	chr18:12271400-12271600	Enhancers	Osteobl	bone
28	chr18:12271400-12271800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr18:12271400-12271800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr18:12271400-12271800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:12271400-12271800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:12271400-12271800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:12271400-12271800	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr18:12271400-12271800	Flanking Active TSS	HepG2	liver
35	chr18:12271400-12272000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:12271400-12272000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:12271400-12272200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr18:12271400-12272200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr18:12271400-12272200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr18:12271400-12272200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr18:12271400-12272200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:12271400-12272200	Active TSS	Brain Anterior Caudate	brain
43	chr18:12271400-12272200	Active TSS	Colon Smooth Muscle	Colon
44	chr18:12271400-12272200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr18:12271400-12272400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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