Variant report

Variant	rs2523992
Chromosome Location	chr6:30075103-30075104
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30075057-30075107	PrEC	prostate:	n/a
2	chr6:30075057-30075107	ProgFib	skin:	n/a
3	chr6:30075057-30075107	SK-N-MC	brain:	n/a
4	chr6:30075057-30075107	RPTEC	kidney:	n/a
5	chr6:30075057-30075107	Hepatocyte	liver:	n/a
6	chr6:30075057-30075107	NHDF-neo	bronchial:	n/a
7	chr6:30075057-30075107	ECC-1	luminal epithelium:	n/a
8	chr6:30075057-30075107	LNCaP	prostate:	n/a
9	chr6:30075057-30075107	PFSK-1	brain:	n/a
10	chr6:30075057-30075107	Caco-2	colon:	n/a
11	chr6:30075057-30075107	Jurkat	blood:	n/a
12	chr6:30075057-30075107	AG09319	gingival:	n/a
13	chr6:30075057-30075107	SKMC	muscle:	n/a
14	chr6:30075057-30075107	HMEC	breast:	n/a
15	chr6:30075057-30075107	AG09309	skin:	n/a
16	chr6:30075057-30075107	HCF	heart:	n/a
17	chr6:30075057-30075107	SK-N-SH	brain:	n/a
18	chr6:30075057-30075107	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:30075057-30075107	GM12891	blood:	n/a
20	chr6:30075057-30075107	HEEpiC	esophagus:	n/a
21	chr6:30075057-30075107	GM12878	blood:	n/a
22	chr6:30075057-30075107	HRCEpiC	kidney:	n/a
23	chr6:30075057-30075107	BJ	skin:	n/a
24	chr6:30075057-30075107	GM06990	blood:	n/a
25	chr6:30075057-30075107	MCF-7	breast:	n/a
26	chr6:30075057-30075107	HEK293	kidney:	embryo
27	chr6:30075057-30075107	HL-60	blood:	n/a
28	chr6:30075057-30075107	A549	lung:	n/a
29	chr6:30075057-30075107	K562	blood:	n/a
30	chr6:30075057-30075107	AG04449	skin:	fetal
31	chr6:30075057-30075107	GM19239	blood:	n/a
32	chr6:30075057-30075107	Hela-S3	cervix:	n/a
33	chr6:30075057-30075107	PANC-1	pancreas:	n/a
34	chr6:30075057-30075107	MCF10A-Er-Src	breast:	n/a
35	chr6:30075057-30075107	HepG2	liver:	n/a
36	chr6:30075057-30075107	NB4	blood:	n/a
37	chr6:30075057-30075107	HAEpiC	amniotic membrane:	n/a
38	chr6:30075057-30075107	HUVEC	blood vessel:	n/a
39	chr6:30075057-30075107	AG10803	skin:	n/a
40	chr6:30075057-30075107	BE2_C	brain:	n/a
41	chr6:30075057-30075107	H1-hESC	embryonic stem cell:	embryo
42	chr6:30075057-30075107	NT2-D1	testis:	n/a
43	chr6:30075057-30075107	NH-A	brain:	n/a
44	chr6:30075057-30075107	HRE	kidney:	n/a
45	chr6:30075057-30075107	CMK	blood:	n/a
46	chr6:30075057-30075107	ovcar-3	ovarian:	n/a
47	chr6:30075057-30075107	AG04450	lung:	fetal
48	chr6:30075057-30075107	T-47D	breast:	n/a
49	chr6:30075057-30075107	NHBE	bronchial:	n/a
50	chr6:30075057-30075107	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:30068684..30075353-chr6:30179679..30184952,7	MCF-7	breast:
2	chr6:30072893..30076173-chr6:30078690..30081417,3	MCF-7	breast:
3	chr6:30073473..30076763-chr6:30077230..30080756,3	K562	blood:

No data

Variant related genes	Relation type
TRIM31	CpG island
ENSG00000234127	Chromatin interaction
ENSG00000204616	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1034326	0.83[EUR][1000 genomes]
rs1034327	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2239529	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2427749	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2517595	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2517596	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2517597	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523976	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523977	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523979	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523981	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523982	0.81[ASN][1000 genomes]
rs2523983	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523986	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523987	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523988	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2523989	0.81[ASN][1000 genomes]
rs2844792	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844793	0.81[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	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2523992	ZNF192	cis	cerebellum	SCAN
rs2523992	ZNF193	cis	cerebellum	SCAN
rs2523992	HLA-A	cis	lymphoblastoid	GTEx
rs2523992	ZNF192	cis	parietal	SCAN
rs2523992	ZKSCAN3	cis	parietal	SCAN
rs2523992	HLA-C	Cis_chr	lymphoblastoid	RTeQTL
rs2523992	ZNF323	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30070000-30075400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:30071600-30079200	Weak transcription	Gastric	stomach
3	chr6:30072200-30078000	Weak transcription	Colonic Mucosa	Colon
4	chr6:30073200-30075200	Weak transcription	Hela-S3	cervix
5	chr6:30073600-30075800	Strong transcription	Fetal Intestine Small	intestine
6	chr6:30074400-30076600	Weak transcription	Stomach Mucosa	stomach

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