Variant report

Variant	rs74097082
Chromosome Location	chr1:86176452-86176453
allele	A/G
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	chr1:86176451-86176501	AoSMC	blood vessel:	n/a
2	chr1:86176451-86176501	PANC-1	pancreas:	n/a
3	chr1:86176451-86176501	HCF	heart:	n/a
4	chr1:86176451-86176501	AG09309	skin:	n/a
5	chr1:86176451-86176501	GM12892	blood:	n/a
6	chr1:86176451-86176501	Hepatocyte	liver:	n/a
7	chr1:86176451-86176501	HAEpiC	amniotic membrane:	n/a
8	chr1:86176451-86176501	NB4	blood:	n/a
9	chr1:86176451-86176501	PFSK-1	brain:	n/a
10	chr1:86176451-86176501	NT2-D1	testis:	n/a
11	chr1:86176451-86176501	NHDF-neo	bronchial:	n/a
12	chr1:86176451-86176501	HRCEpiC	kidney:	n/a
13	chr1:86176451-86176501	HIPEpiC	eye:	n/a
14	chr1:86176451-86176501	SK-N-SH_RA	brain:	n/a
15	chr1:86176451-86176501	HEK293	kidney:	embryo
16	chr1:86176451-86176501	IMR90	lung:	fetal
17	chr1:86176451-86176501	BJ	skin:	n/a
18	chr1:86176451-86176501	NH-A	brain:	n/a
19	chr1:86176451-86176501	SKMC	muscle:	n/a
20	chr1:86176451-86176501	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:86176451-86176501	HCT-116	colon:	n/a
22	chr1:86176451-86176501	A549	lung:	n/a
23	chr1:86176451-86176501	GM19239	blood:	n/a
24	chr1:86176451-86176501	SK-N-SH	brain:	n/a
25	chr1:86176451-86176501	HRPEpiC	eye:	n/a
26	chr1:86176451-86176501	LNCaP	prostate:	n/a
27	chr1:86176451-86176501	Caco-2	colon:	n/a
28	chr1:86176451-86176501	ECC-1	luminal epithelium:	n/a
29	chr1:86176451-86176501	HL-60	blood:	n/a
30	chr1:86176451-86176501	HMEC	breast:	n/a
31	chr1:86176451-86176501	GM06990	blood:	n/a
32	chr1:86176451-86176501	GM12891	blood:	n/a
33	chr1:86176451-86176501	T-47D	breast:	n/a
34	chr1:86176451-86176501	BE2_C	brain:	n/a
35	chr1:86176451-86176501	RPTEC	kidney:	n/a
36	chr1:86176451-86176501	MCF-7	breast:	n/a
37	chr1:86176451-86176501	HepG2	liver:	n/a
38	chr1:86176451-86176501	ProgFib	skin:	n/a
39	chr1:86176451-86176501	HEEpiC	esophagus:	n/a
40	chr1:86176451-86176501	AG09319	gingival:	n/a
41	chr1:86176451-86176501	NHBE	bronchial:	n/a
42	chr1:86176451-86176501	U87	brain:	n/a
43	chr1:86176451-86176501	MCF10A-Er-Src	breast:	n/a
44	chr1:86176451-86176501	HRE	kidney:	n/a
45	chr1:86176451-86176501	GM12878	blood:	n/a
46	chr1:86176451-86176501	HCM	heart:	n/a
47	chr1:86176451-86176501	HCPEpiC	choroid plexus:	n/a
48	chr1:86176451-86176501	HNPCEpiC	eye:	n/a
49	chr1:86176451-86176501	CMK	blood:	n/a
50	chr1:86176451-86176501	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
2	chr1:86174243..86176856-chr1:86192936..86194526,2	K562	blood:
3	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:

No data

Variant related genes	Relation type
ZNHIT6	CpG island
ENSG00000142871	Chromatin interaction
ENSG00000272691	Chromatin interaction
ENSG00000153904	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55863151	1.00[AMR][1000 genomes]
rs56276114	0.83[AMR][1000 genomes]
rs56884931	1.00[AMR][1000 genomes]
rs57768694	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60184734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61168883	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61328391	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6699712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944688	1.00[AMR][1000 genomes]
rs72944702	1.00[AMR][1000 genomes]
rs74097059	1.00[AMR][1000 genomes]
rs74097060	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097061	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097067	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097085	1.00[AMR][1000 genomes]
rs7530774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538740	0.85[AMR][1000 genomes]
rs7541996	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86174400-86185800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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