Variant report

Variant	rs62440583
Chromosome Location	chr6:74064187-74064188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:74064140-74064190	K562	blood:	n/a
2	chr6:74064149-74064199	HIPEpiC	eye:	n/a
3	chr6:74064149-74064199	AG04449	skin:	fetal
4	chr6:74064140-74064190	HRCEpiC	kidney:	n/a
5	chr6:74064140-74064190	HNPCEpiC	eye:	n/a
6	chr6:74064149-74064199	HRE	kidney:	n/a
7	chr6:74064149-74064199	GM19239	blood:	n/a
8	chr6:74064140-74064190	RPTEC	kidney:	n/a
9	chr6:74064149-74064199	HMEC	breast:	n/a
10	chr6:74064149-74064199	HAEpiC	amniotic membrane:	n/a
11	chr6:74064140-74064190	AG09319	gingival:	n/a
12	chr6:74064140-74064190	SK-N-MC	brain:	n/a
13	chr6:74064149-74064199	PANC-1	pancreas:	n/a
14	chr6:74064149-74064199	CMK	blood:	n/a
15	chr6:74064140-74064190	PFSK-1	brain:	n/a
16	chr6:74064140-74064190	HCF	heart:	n/a
17	chr6:74064140-74064190	AG04449	skin:	fetal
18	chr6:74064140-74064190	Jurkat	blood:	n/a
19	chr6:74064149-74064199	SAEC	small airway:	n/a
20	chr6:74064149-74064199	HEEpiC	esophagus:	n/a
21	chr6:74064149-74064199	HCM	heart:	n/a
22	chr6:74064140-74064190	ECC-1	luminal epithelium:	n/a
23	chr6:74064140-74064190	Caco-2	colon:	n/a
24	chr6:74064149-74064199	NH-A	brain:	n/a
25	chr6:74064140-74064190	HIPEpiC	eye:	n/a
26	chr6:74064149-74064199	GM12891	blood:	n/a
27	chr6:74064140-74064190	HL-60	blood:	n/a
28	chr6:74064140-74064190	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:74064140-74064190	H1-hESC	embryonic stem cell:	embryo
30	chr6:74064140-74064190	HEEpiC	esophagus:	n/a
31	chr6:74064140-74064190	SKMC	muscle:	n/a
32	chr6:74064149-74064199	BE2_C	brain:	n/a
33	chr6:74064149-74064199	PFSK-1	brain:	n/a
34	chr6:74064140-74064190	GM19239	blood:	n/a
35	chr6:74064149-74064199	RPTEC	kidney:	n/a
36	chr6:74064149-74064199	PrEC	prostate:	n/a
37	chr6:74064140-74064190	SAEC	small airway:	n/a
38	chr6:74064140-74064190	HepG2	liver:	n/a
39	chr6:74064140-74064190	Hepatocyte	liver:	n/a
40	chr6:74064149-74064199	Hela-S3	cervix:	n/a
41	chr6:74064140-74064190	NH-A	brain:	n/a
42	chr6:74064140-74064190	GM12878	blood:	n/a
43	chr6:74064140-74064190	GM12891	blood:	n/a
44	chr6:74064149-74064199	NHDF-neo	bronchial:	n/a
45	chr6:74064149-74064199	HRPEpiC	eye:	n/a
46	chr6:74064149-74064199	Hepatocyte	liver:	n/a
47	chr6:74064140-74064190	U87	brain:	n/a
48	chr6:74064140-74064190	A549	lung:	n/a
49	chr6:74064149-74064199	GM12892	blood:	n/a
50	chr6:74064140-74064190	AG09309	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74061697..74064251-chr6:74070899..74073820,2	K562	blood:
2	6:74000304-74012200..6:74062967-74076046	GM12878	blood:
3	6:73859137-73881637..6:74062967-74076046	GM12878	blood:

No data

Variant related genes	Relation type
DPPA5	CpG island
ENSG00000234025	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000234882	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12194939	1.00[EUR][1000 genomes]
rs12201569	1.00[EUR][1000 genomes]
rs12205147	1.00[EUR][1000 genomes]
rs12206493	1.00[EUR][1000 genomes]
rs12206527	0.90[EUR][1000 genomes]
rs12211460	1.00[EUR][1000 genomes]
rs12212251	1.00[EUR][1000 genomes]
rs12214308	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12214703	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17810318	1.00[AFR][1000 genomes]
rs34253887	1.00[EUR][1000 genomes]
rs510852	0.89[EUR][1000 genomes]
rs522858	1.00[EUR][1000 genomes]
rs55776330	1.00[EUR][1000 genomes]
rs55884910	1.00[EUR][1000 genomes]
rs55899720	1.00[AFR][1000 genomes]
rs62440579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62440592	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74061800-74065800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:74061800-74071200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:74063000-74064400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:74063400-74064400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:74063600-74064600	Bivalent Enhancer	Placenta	Placenta

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