Variant report

Variant	rs12287188
Chromosome Location	chr11:75302726-75302727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75300955..75303258-chr11:75311375..75313698,2	K562	blood:
2	chr11:75301166..75302882-chr11:75313471..75315266,2	K562	blood:
3	chr11:75301994..75305996-chr11:75306128..75308913,4	MCF-7	breast:
4	chr11:75286806..75288812-chr11:75301623..75303290,2	MCF-7	breast:
5	chr11:75290774..75292517-chr11:75302015..75303916,2	K562	blood:
6	chr11:75302403..75305130-chr11:75308295..75310796,2	K562	blood:
7	chr11:75272932..75274966-chr11:75302540..75305496,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171533	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000255434	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11821219	1.00[EUR][1000 genomes]
rs17134125	1.00[EUR][1000 genomes]
rs57096650	1.00[EUR][1000 genomes]
rs73504507	1.00[EUR][1000 genomes]
rs7924333	1.00[EUR][1000 genomes]
rs7940603	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75294600-75303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
3	chr11:75295600-75303800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:75295600-75304000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:75295600-75310800	Weak transcription	Right Atrium	heart
6	chr11:75295600-75314200	Weak transcription	Lung	lung
7	chr11:75295800-75316400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:75296000-75304000	Weak transcription	Brain Substantia Nigra	brain
9	chr11:75296200-75304200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:75296600-75305800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:75296600-75321000	Weak transcription	Ovary	ovary
12	chr11:75296800-75303400	Weak transcription	HUVEC	blood vessel
13	chr11:75297000-75305200	Weak transcription	Spleen	Spleen
14	chr11:75297800-75303600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:75299000-75304000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:75299000-75304600	Weak transcription	Fetal Brain Female	brain
17	chr11:75299600-75304400	Weak transcription	Brain Germinal Matrix	brain
18	chr11:75299800-75303800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:75300400-75304000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:75300600-75303600	Weak transcription	Fetal Intestine Small	intestine
21	chr11:75300600-75303800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:75300800-75303200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:75301200-75303200	Weak transcription	Fetal Intestine Large	intestine
24	chr11:75301600-75302800	Weak transcription	Fetal Heart	heart
25	chr11:75301600-75303400	Enhancers	K562	blood
26	chr11:75301600-75304000	Weak transcription	Fetal Stomach	stomach
27	chr11:75301600-75313800	Weak transcription	Fetal Lung	lung
28	chr11:75302000-75303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:75302200-75303400	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:75302200-75305400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:75302200-75306800	Enhancers	Fetal Muscle Leg	muscle
32	chr11:75302400-75302800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:75302400-75302800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:75302400-75302800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:75302400-75303000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:75302400-75304800	Enhancers	HSMM	muscle
37	chr11:75302400-75305000	Enhancers	Pancreas	Pancrea
38	chr11:75302400-75305200	Enhancers	HSMMtube	muscle
39	chr11:75302600-75304200	Enhancers	Primary T cells fromperipheralblood	blood

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