Variant report

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220090638..220094600-chr1:220096572..220101080,9	K562	blood:
2	chr1:220051234..220053877-chr1:220096491..220099006,2	K562	blood:
3	chr1:220082601..220085803-chr1:220097043..220100830,4	K562	blood:
4	chr1:220095021..220098931-chr1:220099678..220102679,4	K562	blood:
5	chr1:220088203..220094141-chr1:220096602..220103368,9	K562	blood:
6	chr1:220054905..220056762-chr1:220096226..220098573,2	K562	blood:
7	chr1:220049887..220053877-chr1:220096491..220099006,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196660	Chromatin interaction

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10863511	0.81[EUR][1000 genomes]
rs1694592	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1694593	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1694594	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1694595	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1776030	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1776043	0.85[EUR][1000 genomes]
rs1776046	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1776050	0.85[EUR][1000 genomes]
rs1776052	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275707	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2378331	0.82[EUR][1000 genomes]
rs2647439	0.80[EUR][1000 genomes]
rs6541115	0.82[EUR][1000 genomes]
rs6663638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525274	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs947517	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220085400-220100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:220087200-220099600	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:220087400-220099600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:220089000-220101000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:220089200-220100000	Weak transcription	Brain Germinal Matrix	brain
6	chr1:220096600-220099800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:220097000-220099000	Enhancers	Fetal Intestine Large	intestine
8	chr1:220097400-220098000	Flanking Active TSS	Fetal Intestine Small	intestine
9	chr1:220097400-220098400	Transcr. at gene 5' and 3'	Liver	Liver
10	chr1:220097600-220098000	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:220097600-220098000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:220097600-220098000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr1:220097600-220098000	Enhancers	Stomach Mucosa	stomach
14	chr1:220097600-220098400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr1:220097600-220098600	Genic enhancers	HepG2	liver
16	chr1:220097600-220098600	Transcr. at gene 5' and 3'	K562	blood
17	chr1:220097800-220098200	Active TSS	Brain Anterior Caudate	brain
18	chr1:220097800-220098200	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:220097800-220099600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:220097800-220099800	Weak transcription	Fetal Brain Female	brain

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