Variant report

Variant	rs35418981
Chromosome Location	chr17:18290687-18290688
allele	A/T
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:2)
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	chr17:18290668-18290718	HepG2	liver:	n/a
2	chr17:18290668-18290718	MCF-7	breast:	n/a
3	chr17:18290668-18290718	GM06990	blood:	n/a
4	chr17:18290668-18290718	SK-N-SH	brain:	n/a
5	chr17:18290668-18290718	A549	lung:	n/a
6	chr17:18290668-18290718	HL-60	blood:	n/a
7	chr17:18290668-18290718	NH-A	brain:	n/a
8	chr17:18290668-18290718	ovcar-3	ovarian:	n/a
9	chr17:18290668-18290718	HAEpiC	amniotic membrane:	n/a
10	chr17:18290668-18290718	BE2_C	brain:	n/a
11	chr17:18290668-18290718	MCF10A-Er-Src	breast:	n/a
12	chr17:18290668-18290718	SK-N-SH_RA	brain:	n/a
13	chr17:18290668-18290718	Caco-2	colon:	n/a
14	chr17:18290668-18290718	Jurkat	blood:	n/a
15	chr17:18290668-18290718	PANC-1	pancreas:	n/a
16	chr17:18290668-18290718	H1-hESC	embryonic stem cell:	embryo
17	chr17:18290668-18290718	GM19239	blood:	n/a
18	chr17:18290668-18290718	CMK	blood:	n/a
19	chr17:18290668-18290718	PrEC	prostate:	n/a
20	chr17:18290668-18290718	HNPCEpiC	eye:	n/a
21	chr17:18290668-18290718	HEEpiC	esophagus:	n/a
22	chr17:18290668-18290718	ProgFib	skin:	n/a
23	chr17:18290668-18290718	Hepatocyte	liver:	n/a
24	chr17:18290668-18290718	PFSK-1	brain:	n/a
25	chr17:18290668-18290718	HCF	heart:	n/a
26	chr17:18290668-18290718	HCPEpiC	choroid plexus:	n/a
27	chr17:18290668-18290718	HRPEpiC	eye:	n/a
28	chr17:18290668-18290718	NHBE	bronchial:	n/a
29	chr17:18290668-18290718	K562	blood:	n/a
30	chr17:18290668-18290718	GM12878	blood:	n/a
31	chr17:18290668-18290718	AG10803	skin:	n/a
32	chr17:18290668-18290718	HCM	heart:	n/a
33	chr17:18290668-18290718	AoSMC	blood vessel:	n/a
34	chr17:18290668-18290718	NHDF-neo	bronchial:	n/a
35	chr17:18290668-18290718	HEK293	kidney:	embryo
36	chr17:18290668-18290718	HMEC	breast:	n/a
37	chr17:18290668-18290718	BJ	skin:	n/a
38	chr17:18290668-18290718	IMR90	lung:	fetal
39	chr17:18290668-18290718	GM12891	blood:	n/a
40	chr17:18290668-18290718	Hela-S3	cervix:	n/a
41	chr17:18290668-18290718	LNCaP	prostate:	n/a
42	chr17:18290668-18290718	T-47D	breast:	n/a
43	chr17:18290668-18290718	AG09309	skin:	n/a
44	chr17:18290668-18290718	HUVEC	blood vessel:	n/a
45	chr17:18290668-18290718	U87	brain:	n/a
46	chr17:18290668-18290718	AG09319	gingival:	n/a
47	chr17:18290668-18290718	HPAEpiC	pulmonary alveolar:	n/a
48	chr17:18290668-18290718	ECC-1	luminal epithelium:	n/a
49	chr17:18290668-18290718	RPTEC	kidney:	n/a
50	chr17:18290668-18290718	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:
2	chr17:18273227..18274953-chr17:18289917..18291736,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267441	CpG island
ENSG00000263946	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 26 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2461846	0.83[AMR][1000 genomes]
rs2461847	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34122488	0.82[AMR][1000 genomes]
rs34769815	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs584300	0.83[AMR][1000 genomes]
rs586757	0.86[AMR][1000 genomes]
rs587609	0.86[AMR][1000 genomes]
rs7222335	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
9	esv2758443	chr17:18234525-18446384	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
10	esv2758677	chr17:18234525-18446384	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
11	esv1829832	chr17:18235992-18405148	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
12	nsv827913	chr17:18253785-18572122	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv1065708	chr17:18259174-18913343	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
14	nsv978378	chr17:18272529-18321736	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv962275	chr17:18272529-18471923	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv833388	chr17:18275146-18454773	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
17	nsv907778	chr17:18275847-18409309	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv469661	chr17:18275972-18446377	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	nsv482696	chr17:18275972-18446377	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
20	nsv827914	chr17:18278173-18424843	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv1058895	chr17:18278477-18474634	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
22	nsv1062985	chr17:18283527-18465209	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
23	nsv1067238	chr17:18283687-18465209	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
24	nsv1057226	chr17:18283687-18510146	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
25	esv3373438	chr17:18285177-18295675	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv1066489	chr17:18288982-18411911	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
27	nsv1061073	chr17:18288982-18465209	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
28	nsv1062890	chr17:18288982-18474634	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
29	esv2762610	chr17:18288994-18510158	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
30	nsv1056902	chr17:18289392-18446667	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
31	nsv1067496	chr17:18289392-18465209	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
32	nsv1065690	chr17:18289392-18474634	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
33	nsv1066638	chr17:18289392-18510146	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
34	nsv1063814	chr17:18289524-18465209	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
35	nsv1064293	chr17:18289643-18465209	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
36	esv13547	chr17:18289948-18305613	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:26)

SNP	Gene	Cis/trans	Tissue	Source
rs35418981	SHMT1	cis	Artery Aorta	GTEx
rs35418981	USP32P2	cis	Artery Tibial	GTEx
rs35418981	USP32P2	cis	Whole Blood	GTEx
rs35418981	USP32P2	cis	Nerve Tibial	GTEx
rs35418981	SHMT1	cis	Esophagus Muscularis	GTEx
rs35418981	FAM106A	cis	Esophagus Mucosa	GTEx
rs35418981	SHMT1	Cis_1M	lymphoblastoid	RTeQTL
rs35418981	LGALS9C	cis	Whole Blood	GTEx
rs35418981	FAM106A	cis	Thyroid	GTEx
rs35418981	USP32P2	cis	lung	GTEx
rs35418981	FAM106A	cis	Adipose Subcutaneous	GTEx
rs35418981	USP32P2	cis	Thyroid	GTEx
rs35418981	USP32P2	cis	Esophagus Mucosa	GTEx
rs35418981	SHMT1	cis	Artery Tibial	GTEx
rs35418981	USP32P2	cis	Adipose Subcutaneous	GTEx
rs35418981	FAM106A	cis	Muscle Skeletal	GTEx
rs35418981	FAM106A	cis	Esophagus Muscularis	GTEx
rs35418981	FAM106A	cis	Artery Tibial	GTEx
rs35418981	SHMT1	cis	Whole Blood	GTEx
rs35418981	FAM106A	cis	Nerve Tibial	GTEx
rs35418981	USP32P2	cis	Skin Sun Exposed Lower leg	GTEx
rs35418981	FAM106A	cis	Skin Sun Exposed Lower leg	GTEx
rs35418981	USP32P2	cis	Muscle Skeletal	GTEx
rs35418981	FAM106A	cis	lung	GTEx
rs35418981	USP32P2	cis	Stomach	GTEx
rs35418981	USP32P2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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