Variant report

Variant	rs10798687
Chromosome Location	chr1:171807232-171807233
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:0)
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	chr1:171807195-171807245	ProgFib	skin:	n/a
2	chr1:171807195-171807245	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:171807195-171807245	HepG2	liver:	n/a
4	chr1:171807195-171807245	HIPEpiC	eye:	n/a
5	chr1:171807195-171807245	Hela-S3	cervix:	n/a
6	chr1:171807195-171807245	MCF10A-Er-Src	breast:	n/a
7	chr1:171807195-171807245	NHBE	bronchial:	n/a
8	chr1:171807195-171807245	HL-60	blood:	n/a
9	chr1:171807195-171807245	LNCaP	prostate:	n/a
10	chr1:171807195-171807245	NHDF-neo	bronchial:	n/a
11	chr1:171807195-171807245	SK-N-SH_RA	brain:	n/a
12	chr1:171807195-171807245	HEK293	kidney:	embryo
13	chr1:171807195-171807245	SKMC	muscle:	n/a
14	chr1:171807195-171807245	NH-A	brain:	n/a
15	chr1:171807195-171807245	NT2-D1	testis:	n/a
16	chr1:171807195-171807245	GM12892	blood:	n/a
17	chr1:171807195-171807245	H1-hESC	embryonic stem cell:	embryo
18	chr1:171807195-171807245	BJ	skin:	n/a
19	chr1:171807195-171807245	HRE	kidney:	n/a
20	chr1:171807195-171807245	BE2_C	brain:	n/a
21	chr1:171807195-171807245	HCM	heart:	n/a
22	chr1:171807195-171807245	T-47D	breast:	n/a
23	chr1:171807195-171807245	Caco-2	colon:	n/a
24	chr1:171807195-171807245	SK-N-MC	brain:	n/a
25	chr1:171807195-171807245	Jurkat	blood:	n/a
26	chr1:171807195-171807245	RPTEC	kidney:	n/a
27	chr1:171807195-171807245	AG10803	skin:	n/a
28	chr1:171807195-171807245	HEEpiC	esophagus:	n/a
29	chr1:171807195-171807245	ECC-1	luminal epithelium:	n/a
30	chr1:171807195-171807245	HNPCEpiC	eye:	n/a
31	chr1:171807195-171807245	AG09319	gingival:	n/a
32	chr1:171807195-171807245	HCF	heart:	n/a
33	chr1:171807195-171807245	HRPEpiC	eye:	n/a
34	chr1:171807195-171807245	PFSK-1	brain:	n/a
35	chr1:171807195-171807245	HUVEC	blood vessel:	n/a
36	chr1:171807195-171807245	HAEpiC	amniotic membrane:	n/a
37	chr1:171807195-171807245	GM12878	blood:	n/a
38	chr1:171807195-171807245	SK-N-SH	brain:	n/a
39	chr1:171807195-171807245	U87	brain:	n/a
40	chr1:171807195-171807245	IMR90	lung:	fetal
41	chr1:171807195-171807245	GM06990	blood:	n/a
42	chr1:171807195-171807245	Hepatocyte	liver:	n/a
43	chr1:171807195-171807245	PrEC	prostate:	n/a
44	chr1:171807195-171807245	K562	blood:	n/a
45	chr1:171807195-171807245	HCT-116	colon:	n/a
46	chr1:171807195-171807245	MCF-7	breast:	n/a
47	chr1:171807195-171807245	HMEC	breast:	n/a
48	chr1:171807195-171807245	ovcar-3	ovarian:	n/a
49	chr1:171807195-171807245	AG09309	skin:	n/a
50	chr1:171807195-171807245	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
DNM3	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1015009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1015010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10436867	0.90[ASN][1000 genomes]
rs10798688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798712	0.94[ASN][1000 genomes]
rs10913811	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579330	0.90[ASN][1000 genomes]
rs11582287	0.81[ASN][1000 genomes]
rs12025368	0.93[ASN][1000 genomes]
rs12028585	0.90[ASN][1000 genomes]
rs12048200	0.93[ASN][1000 genomes]
rs1555384	0.90[ASN][1000 genomes]
rs2294723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294724	0.91[ASN][1000 genomes]
rs72711798	0.90[ASN][1000 genomes]
rs72713710	0.94[ASN][1000 genomes]
rs72713711	0.94[ASN][1000 genomes]
rs7538839	0.90[ASN][1000 genomes]
rs7546406	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10798687	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171796400-171809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:171796600-171810000	Weak transcription	Pancreas	Pancrea
3	chr1:171803000-171809800	Weak transcription	NHDF-Ad	bronchial
4	chr1:171804400-171810200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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