Variant report

Variant	rs677283
Chromosome Location	chr11:75306979-75306980
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75274194..75275717-chr11:75305204..75308053,2	K562	blood:
2	chr11:75274194..75276398-chr11:75306553..75308654,2	K562	blood:

Variant related genes	Relation type
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2509615	0.80[EUR][1000 genomes]
rs516573	0.84[EUR][1000 genomes]
rs538956	0.85[EUR][1000 genomes]
rs599783	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629238	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640703	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655036	0.80[EUR][1000 genomes]
rs658356	0.83[AMR][1000 genomes]
rs658601	0.83[EUR][1000 genomes]
rs75954	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
2	chr11:75295600-75310800	Weak transcription	Right Atrium	heart
3	chr11:75295600-75314200	Weak transcription	Lung	lung
4	chr11:75295800-75316400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:75296600-75321000	Weak transcription	Ovary	ovary
6	chr11:75301600-75313800	Weak transcription	Fetal Lung	lung
7	chr11:75302800-75312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:75303800-75307000	Enhancers	Brain Anterior Caudate	brain
9	chr11:75304800-75309200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:75305000-75307600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:75305000-75308800	Enhancers	K562	blood
12	chr11:75305000-75328800	Weak transcription	Pancreas	Pancrea
13	chr11:75305200-75309400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:75305400-75307800	Weak transcription	Fetal Intestine Small	intestine
15	chr11:75305400-75309000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:75305600-75307000	Weak transcription	Fetal Brain Female	brain
17	chr11:75305600-75308800	Weak transcription	Fetal Brain Male	brain
18	chr11:75305600-75316000	Weak transcription	Brain Angular Gyrus	brain
19	chr11:75305800-75307200	Enhancers	Fetal Thymus	thymus
20	chr11:75305800-75313400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:75305800-75316000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:75306000-75307000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:75306000-75307800	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:75306000-75308000	Enhancers	Fetal Heart	heart
26	chr11:75306000-75326200	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:75306000-75326200	Weak transcription	Brain Substantia Nigra	brain
28	chr11:75306200-75307600	Enhancers	GM12878-XiMat	blood
29	chr11:75306200-75312600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:75306400-75307200	Enhancers	Primary B cells from cord blood	blood
31	chr11:75306400-75312600	Weak transcription	Fetal Stomach	stomach
32	chr11:75306400-75313400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:75306400-75323600	Weak transcription	Spleen	Spleen
34	chr11:75306600-75307600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:75306600-75309600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:75306600-75324200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:75306800-75307000	Weak transcription	HSMMtube	muscle
38	chr11:75306800-75307600	Weak transcription	Brain Germinal Matrix	brain
39	chr11:75306800-75308800	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:75306800-75309000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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