Variant report

Variant	rs55917084
Chromosome Location	chr11:17460705-17460706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr11:17460362-17461490	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17459219..17462653-chr11:17463041..17467220,4	K562	blood:

Variant related genes	Relation type
SDHCP4	TF binding region
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12288157	0.90[EUR][1000 genomes]
rs12417921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422005	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34048175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56027747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56058349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56213202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56283872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56296742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393905	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59060762	0.90[EUR][1000 genomes]
rs7110117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111475	0.90[EUR][1000 genomes]
rs8192695	0.90[EUR][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	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17443800-17462600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:17454000-17464000	Weak transcription	Brain Anterior Caudate	brain
3	chr11:17454200-17465800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:17456200-17461000	Weak transcription	Spleen	Spleen
6	chr11:17457000-17467200	Weak transcription	Fetal Brain Male	brain
7	chr11:17457200-17465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:17457400-17464600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17458800-17462000	Enhancers	Fetal Thymus	thymus
10	chr11:17460000-17460800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:17460000-17461400	Enhancers	Dnd41	blood
12	chr11:17460000-17461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:17460200-17461200	Enhancers	Gastric	stomach
14	chr11:17460200-17462400	Strong transcription	Fetal Brain Female	brain
15	chr11:17460400-17460800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr11:17460400-17461200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:17460400-17461400	Enhancers	Fetal Intestine Large	intestine
18	chr11:17460400-17461600	Enhancers	Fetal Lung	lung
19	chr11:17460400-17462200	Enhancers	A549	lung
20	chr11:17460600-17461000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr11:17460600-17461000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr11:17460600-17461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:17460600-17461400	Enhancers	Stomach Mucosa	stomach
24	chr11:17460600-17461600	Enhancers	Fetal Intestine Small	intestine

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