Variant report

Variant	rs12280281
Chromosome Location	chr11:17433631-17433632
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17425700..17429161-chr11:17431287..17434837,3	K562	blood:

Variant related genes	Relation type
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12280242	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293228	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805036	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299640	1.00[ASN][1000 genomes]
rs4148627	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148634	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926934	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932122	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939973	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944045	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929235	0.81[ASN][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
3	chr11:17422000-17435800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:17427800-17434000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:17428200-17434600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:17428200-17450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:17428400-17434200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:17428400-17434400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:17428400-17434600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:17429000-17435000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:17430000-17434600	Weak transcription	Fetal Intestine Small	intestine
12	chr11:17430400-17439400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:17431800-17435400	Enhancers	Lung	lung
14	chr11:17432000-17437400	Enhancers	Pancreas	Pancrea
15	chr11:17432400-17435200	Enhancers	Dnd41	blood
16	chr11:17432600-17436600	Enhancers	Stomach Mucosa	stomach
17	chr11:17432800-17433800	Weak transcription	Gastric	stomach
18	chr11:17432800-17434000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:17432800-17434600	Weak transcription	Colonic Mucosa	Colon
20	chr11:17432800-17434800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:17432800-17435200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:17432800-17436200	Weak transcription	Right Ventricle	heart
23	chr11:17433200-17434600	Weak transcription	Right Atrium	heart
24	chr11:17433200-17435000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:17433400-17434400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:17433400-17434800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:17433400-17436200	Weak transcription	Left Ventricle	heart

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