Variant report

Variant	rs189251880
Chromosome Location	chr3:133476948-133476949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:133470213-133490385	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:133471573-133479086	HepG2	liver:	n/a	n/a
3	CREB1	chr3:133476809-133477089	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:133476652-133477002	HepG2	liver:	n/a	n/a
5	HEY1	chr3:133470261-133482084	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:133476652-133477277	HepG2	liver:	n/a	n/a
7	STAT3	chr3:133476918-133477118	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:133476920-133477020	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:133471516-133487597	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:133464423-133479250	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:133476761-133478522	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:133470633-133487808	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133476947-133476997	RPTEC	kidney:	n/a
2	chr3:133476947-133476997	NH-A	brain:	n/a
3	chr3:133476947-133476997	LNCaP	prostate:	n/a
4	chr3:133476947-133476997	HCM	heart:	n/a
5	chr3:133476947-133476997	PFSK-1	brain:	n/a
6	chr3:133476947-133476997	PrEC	prostate:	n/a
7	chr3:133476947-133476997	HCT-116	colon:	n/a
8	chr3:133476947-133476997	MCF10A-Er-Src	breast:	n/a
9	chr3:133476947-133476997	SK-N-SH_RA	brain:	n/a
10	chr3:133476947-133476997	GM12878	blood:	n/a
11	chr3:133476947-133476997	AoSMC	blood vessel:	n/a
12	chr3:133476947-133476997	GM12892	blood:	n/a
13	chr3:133476947-133476997	GM12891	blood:	n/a
14	chr3:133476947-133476997	HRE	kidney:	n/a
15	chr3:133476947-133476997	A549	lung:	n/a
16	chr3:133476947-133476997	GM06990	blood:	n/a
17	chr3:133476947-133476997	MCF-7	breast:	n/a
18	chr3:133476947-133476997	Caco-2	colon:	n/a
19	chr3:133476947-133476997	HAEpiC	amniotic membrane:	n/a
20	chr3:133476947-133476997	SK-N-MC	brain:	n/a
21	chr3:133476947-133476997	GM19239	blood:	n/a
22	chr3:133476947-133476997	BJ	skin:	n/a
23	chr3:133476947-133476997	U87	brain:	n/a
24	chr3:133476947-133476997	Hela-S3	cervix:	n/a
25	chr3:133476947-133476997	HCF	heart:	n/a
26	chr3:133476947-133476997	HEEpiC	esophagus:	n/a
27	chr3:133476947-133476997	AG09309	skin:	n/a
28	chr3:133476947-133476997	HL-60	blood:	n/a
29	chr3:133476947-133476997	H1-hESC	embryonic stem cell:	embryo
30	chr3:133476947-133476997	ECC-1	luminal epithelium:	n/a
31	chr3:133476947-133476997	HEK293	kidney:	embryo
32	chr3:133476947-133476997	SAEC	small airway:	n/a
33	chr3:133476947-133476997	CMK	blood:	n/a
34	chr3:133476947-133476997	AG10803	skin:	n/a
35	chr3:133476947-133476997	SK-N-SH	brain:	n/a
36	chr3:133476947-133476997	HRPEpiC	eye:	n/a
37	chr3:133476947-133476997	AG04450	lung:	fetal
38	chr3:133476947-133476997	HRCEpiC	kidney:	n/a
39	chr3:133476947-133476997	Jurkat	blood:	n/a
40	chr3:133476947-133476997	AG09319	gingival:	n/a
41	chr3:133476947-133476997	NHBE	bronchial:	n/a
42	chr3:133476947-133476997	HCPEpiC	choroid plexus:	n/a
43	chr3:133476947-133476997	NHDF-neo	bronchial:	n/a
44	chr3:133476947-133476997	HMEC	breast:	n/a
45	chr3:133476947-133476997	AG04449	skin:	fetal
46	chr3:133476947-133476997	SKMC	muscle:	n/a
47	chr3:133476947-133476997	NB4	blood:	n/a
48	chr3:133476947-133476997	HepG2	liver:	n/a
49	chr3:133476947-133476997	HNPCEpiC	eye:	n/a
50	chr3:133476947-133476997	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133475218..133478981-chr3:133481312..133484055,3	K562	blood:
2	chr3:133465852..133468285-chr3:133474499..133477437,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244062	TF binding region
ENSG00000244062	CpG island
ENSG00000091513	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv3380897	chr3:133473262-133477260	Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv877508	chr3:133476852-133482662	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133471600-133477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:133471800-133477000	Genic enhancers	Brain Cingulate Gyrus	brain
4	chr3:133472400-133480600	Strong transcription	Brain Angular Gyrus	brain
5	chr3:133473400-133480800	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr3:133473800-133478200	Strong transcription	Liver	Liver
7	chr3:133474000-133480200	Strong transcription	Brain Hippocampus Middle	brain
8	chr3:133475000-133487000	Weak transcription	Fetal Brain Male	brain
9	chr3:133475200-133480800	Strong transcription	HepG2	liver
10	chr3:133475200-133482800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:133475600-133477400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:133476200-133477000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:133476200-133477200	Enhancers	HMEC	breast
14	chr3:133476200-133477800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:133476200-133478600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:133476400-133477400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:133476400-133478400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:133476800-133477000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:133476800-133477000	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:133476800-133477000	Bivalent Enhancer	NHEK	skin
21	chr3:133476800-133477200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:133476800-133477200	Genic enhancers	Brain Anterior Caudate	brain
23	chr3:133476800-133478200	Strong transcription	Brain Substantia Nigra	brain
24	chr3:133476800-133478800	Strong transcription	Adipose Nuclei	Adipose

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