Variant report

Variant	rs12033013
Chromosome Location	chr1:113290694-113290695
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:113290665-113290832	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113290669-113290719	SK-N-SH_RA	brain:	n/a
2	chr1:113290669-113290719	HCT-116	colon:	n/a
3	chr1:113290669-113290719	GM12892	blood:	n/a
4	chr1:113290669-113290719	SKMC	muscle:	n/a
5	chr1:113290669-113290719	HRE	kidney:	n/a
6	chr1:113290669-113290719	HCF	heart:	n/a
7	chr1:113290669-113290719	HUVEC	blood vessel:	n/a
8	chr1:113290669-113290719	H1-hESC	embryonic stem cell:	embryo
9	chr1:113290669-113290719	HepG2	liver:	n/a
10	chr1:113290669-113290719	ProgFib	skin:	n/a
11	chr1:113290669-113290719	Hela-S3	cervix:	n/a
12	chr1:113290669-113290719	HEK293	kidney:	embryo
13	chr1:113290669-113290719	AG09309	skin:	n/a
14	chr1:113290669-113290719	ECC-1	luminal epithelium:	n/a
15	chr1:113290669-113290719	AoSMC	blood vessel:	n/a
16	chr1:113290669-113290719	HEEpiC	esophagus:	n/a
17	chr1:113290669-113290719	LNCaP	prostate:	n/a
18	chr1:113290669-113290719	T-47D	breast:	n/a
19	chr1:113290669-113290719	BE2_C	brain:	n/a
20	chr1:113290669-113290719	A549	lung:	n/a
21	chr1:113290669-113290719	AG04450	lung:	fetal
22	chr1:113290669-113290719	Caco-2	colon:	n/a
23	chr1:113290669-113290719	MCF10A-Er-Src	breast:	n/a
24	chr1:113290669-113290719	AG09319	gingival:	n/a
25	chr1:113290669-113290719	RPTEC	kidney:	n/a
26	chr1:113290669-113290719	GM12891	blood:	n/a
27	chr1:113290669-113290719	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:113290669-113290719	GM12878	blood:	n/a
29	chr1:113290669-113290719	ovcar-3	ovarian:	n/a
30	chr1:113290669-113290719	NB4	blood:	n/a
31	chr1:113290669-113290719	HRPEpiC	eye:	n/a
32	chr1:113290669-113290719	CMK	blood:	n/a
33	chr1:113290669-113290719	NHBE	bronchial:	n/a
34	chr1:113290669-113290719	IMR90	lung:	fetal
35	chr1:113290669-113290719	U87	brain:	n/a
36	chr1:113290669-113290719	PFSK-1	brain:	n/a
37	chr1:113290669-113290719	SK-N-SH	brain:	n/a
38	chr1:113290669-113290719	SK-N-MC	brain:	n/a
39	chr1:113290669-113290719	Jurkat	blood:	n/a
40	chr1:113290669-113290719	HAEpiC	amniotic membrane:	n/a
41	chr1:113290669-113290719	NHDF-neo	bronchial:	n/a
42	chr1:113290669-113290719	BJ	skin:	n/a
43	chr1:113290669-113290719	NH-A	brain:	n/a
44	chr1:113290669-113290719	HRCEpiC	kidney:	n/a
45	chr1:113290669-113290719	GM06990	blood:	n/a
46	chr1:113290669-113290719	PrEC	prostate:	n/a
47	chr1:113290669-113290719	HCM	heart:	n/a
48	chr1:113290669-113290719	HL-60	blood:	n/a
49	chr1:113290669-113290719	HMEC	breast:	n/a
50	chr1:113290669-113290719	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
ENSG00000234790	TF binding region
ENSG00000234790	CpG island

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11102526	0.89[ASN][1000 genomes]
rs11102531	0.83[ASN][1000 genomes]
rs11580907	0.81[ASN][1000 genomes]
rs12122855	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12125967	0.83[ASN][1000 genomes]
rs4294409	0.88[ASN][1000 genomes]
rs4839260	0.95[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs55939069	0.83[ASN][1000 genomes]
rs56043521	0.82[ASN][1000 genomes]
rs56260920	0.84[ASN][1000 genomes]
rs6537755	0.83[ASN][1000 genomes]
rs6537756	0.83[ASN][1000 genomes]
rs6675379	0.82[ASN][1000 genomes]
rs7530910	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS 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 miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer 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 target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv998794	chr1:113246630-113310418	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv547566	chr1:113248365-113301657	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113287200-113290800	Weak transcription	Pancreas	Pancrea
2	chr1:113288800-113291000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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