Variant report

Variant	rs12285790
Chromosome Location	chr11:75326623-75326624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75287961..75290671-chr11:75324670..75327519,2	MCF-7	breast:
2	chr11:75320436..75322582-chr11:75325180..75328802,3	K562	blood:
3	chr11:75324396..75326709-chr11:75339433..75341143,2	K562	blood:
4	chr11:75324179..75326709-chr11:75339433..75341583,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10466734	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236470	0.87[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236471	0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236472	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236474	1.00[AMR][1000 genomes]
rs11236479	0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236483	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236484	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236486	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271835	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275088	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275991	0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279884	1.00[AMR][1000 genomes]
rs12283587	1.00[AMR][1000 genomes]
rs12283710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283717	0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291785	1.00[AMR][1000 genomes]
rs57234319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58567299	1.00[AMR][1000 genomes]
rs61343133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7112425	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488499	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7482924	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
2	chr11:75305000-75328800	Weak transcription	Pancreas	Pancrea
3	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:75310200-75329800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:75314000-75328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:75317600-75346200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:75319600-75329600	Weak transcription	Fetal Stomach	stomach
8	chr11:75322200-75327600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:75323400-75337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:75324200-75328400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:75324400-75328200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:75324400-75328200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:75325400-75327600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:75325400-75329800	Weak transcription	Lung	lung
15	chr11:75326000-75326800	Enhancers	Brain Cingulate Gyrus	brain
16	chr11:75326000-75326800	Enhancers	Brain Germinal Matrix	brain
17	chr11:75326000-75326800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr11:75326000-75327800	Enhancers	Fetal Lung	lung
19	chr11:75326000-75328400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:75326200-75326800	Enhancers	Brain Anterior Caudate	brain
21	chr11:75326200-75326800	Enhancers	Brain Substantia Nigra	brain
22	chr11:75326200-75327000	Enhancers	Brain Hippocampus Middle	brain
23	chr11:75326200-75328200	Enhancers	Fetal Brain Female	brain
24	chr11:75326200-75328400	Enhancers	Fetal Brain Male	brain
25	chr11:75326400-75326800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:75326400-75326800	Enhancers	Fetal Heart	heart
27	chr11:75326400-75327000	Enhancers	Brain Angular Gyrus	brain
28	chr11:75326400-75327800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:75326600-75326800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:75326600-75326800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:75326600-75326800	Enhancers	Fetal Intestine Large	intestine
32	chr11:75326600-75326800	Enhancers	Fetal Muscle Leg	muscle
33	chr11:75326600-75326800	Enhancers	Sigmoid Colon	Sigmoid Colon

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