Variant report

Variant	rs11168916
Chromosome Location	chr12:49594905-49594906
allele	G/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	chr12:49580976..49585142-chr12:49593729..49597432,6	MCF-7	breast:
2	chr12:49581166..49587086-chr12:49589804..49595729,8	K562	blood:
3	chr12:49591818..49595600-chr12:49658262..49660804,4	K562	blood:
4	chr12:49580819..49584782-chr12:49592749..49596626,6	MCF-7	breast:
5	chr12:49524941..49526770-chr12:49593009..49595914,2	MCF-7	breast:
6	chr12:49594725..49597535-chr12:49636172..49638217,2	K562	blood:
7	chr12:49522523..49525468-chr12:49594471..49598095,4	K562	blood:
8	chr12:49584778..49586997-chr12:49594465..49596550,2	K562	blood:
9	chr12:49529524..49531633-chr12:49594267..49596697,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10219709	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168898	1.00[AMR][1000 genomes]
rs11168899	1.00[AMR][1000 genomes]
rs11168905	1.00[AMR][1000 genomes]
rs11168913	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168918	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168923	1.00[AMR][1000 genomes]
rs12296189	1.00[AMR][1000 genomes]
rs12296265	1.00[AMR][1000 genomes]
rs12297125	0.83[AMR][1000 genomes]
rs12298869	1.00[AMR][1000 genomes]
rs12307514	0.83[AMR][1000 genomes]
rs12315823	1.00[AMR][1000 genomes]
rs12318970	1.00[AMR][1000 genomes]
rs12321120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322965	1.00[AMR][1000 genomes]
rs61648563	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49583200-49595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:49583400-49595800	Weak transcription	Ovary	ovary
3	chr12:49583600-49595800	Weak transcription	Aorta	Aorta
4	chr12:49583600-49595800	Weak transcription	Fetal Thymus	thymus
5	chr12:49591000-49596200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:49591600-49595800	Weak transcription	Spleen	Spleen
7	chr12:49592200-49595200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:49592400-49595800	Weak transcription	Lung	lung
9	chr12:49592800-49595000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:49592800-49595000	Weak transcription	Right Atrium	heart
11	chr12:49592800-49595000	Weak transcription	K562	blood
12	chr12:49592800-49595600	Weak transcription	Fetal Stomach	stomach
13	chr12:49592800-49608600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:49593000-49595000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:49593000-49595000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:49593000-49595200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:49593000-49595200	Weak transcription	Fetal Heart	heart
18	chr12:49593000-49595800	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:49593000-49596200	Enhancers	Brain Hippocampus Middle	brain
20	chr12:49593200-49595000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:49593200-49597400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:49593400-49595000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:49593400-49595200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:49593400-49595200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:49593800-49596000	Enhancers	Brain Angular Gyrus	brain
26	chr12:49593800-49596000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:49594000-49595000	Enhancers	HUVEC	blood vessel
28	chr12:49594000-49595200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:49594000-49596000	Enhancers	Brain Substantia Nigra	brain
30	chr12:49594000-49596200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:49594000-49596200	Enhancers	Psoas Muscle	Psoas
32	chr12:49594200-49595000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:49594200-49595000	Enhancers	A549	lung
34	chr12:49594200-49595200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:49594200-49596000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:49594200-49596200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:49594200-49596200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:49594200-49596200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:49594200-49596400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:49594400-49595000	Enhancers	Colon Smooth Muscle	Colon
41	chr12:49594400-49595000	Enhancers	NH-A	brain
42	chr12:49594400-49595200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:49594400-49595600	Enhancers	Hela-S3	cervix
44	chr12:49594400-49595800	Weak transcription	Left Ventricle	heart
45	chr12:49594400-49596200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:49594400-49596200	Enhancers	HSMM	muscle
47	chr12:49594400-49596400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:49594400-49596800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:49594600-49595000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:49594600-49595000	Enhancers	Muscle Satellite Cultured Cells	--

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