Variant report

Variant	rs375400486
Chromosome Location	chr3:20053709-20053710
allele	A/G
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:2)
LncRNA
region (count:2)
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	CEBPB	chr3:20053662-20053918	HepG2	liver:	n/a	chr3:20053812-20053823

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20053708-20053758	AG09309	skin:	n/a
2	chr3:20053708-20053758	AG04449	skin:	fetal
3	chr3:20053708-20053758	SKMC	muscle:	n/a
4	chr3:20053708-20053758	Hela-S3	cervix:	n/a
5	chr3:20053708-20053758	GM12892	blood:	n/a
6	chr3:20053708-20053758	HepG2	liver:	n/a
7	chr3:20053708-20053758	HRPEpiC	eye:	n/a
8	chr3:20053708-20053758	Hepatocyte	liver:	n/a
9	chr3:20053708-20053758	AG09319	gingival:	n/a
10	chr3:20053708-20053758	NT2-D1	testis:	n/a
11	chr3:20053708-20053758	AG10803	skin:	n/a
12	chr3:20053708-20053758	AoSMC	blood vessel:	n/a
13	chr3:20053708-20053758	ProgFib	skin:	n/a
14	chr3:20053708-20053758	Jurkat	blood:	n/a
15	chr3:20053708-20053758	LNCaP	prostate:	n/a
16	chr3:20053708-20053758	HEK293	kidney:	embryo
17	chr3:20053708-20053758	HRCEpiC	kidney:	n/a
18	chr3:20053708-20053758	MCF10A-Er-Src	breast:	n/a
19	chr3:20053708-20053758	HEEpiC	esophagus:	n/a
20	chr3:20053708-20053758	SK-N-MC	brain:	n/a
21	chr3:20053708-20053758	GM19239	blood:	n/a
22	chr3:20053708-20053758	NB4	blood:	n/a
23	chr3:20053708-20053758	GM12891	blood:	n/a
24	chr3:20053708-20053758	A549	lung:	n/a
25	chr3:20053708-20053758	SAEC	small airway:	n/a
26	chr3:20053708-20053758	BJ	skin:	n/a
27	chr3:20053708-20053758	GM06990	blood:	n/a
28	chr3:20053708-20053758	T-47D	breast:	n/a
29	chr3:20053708-20053758	NH-A	brain:	n/a
30	chr3:20053708-20053758	HCF	heart:	n/a
31	chr3:20053708-20053758	BE2_C	brain:	n/a
32	chr3:20053708-20053758	HIPEpiC	eye:	n/a
33	chr3:20053708-20053758	HAEpiC	amniotic membrane:	n/a
34	chr3:20053708-20053758	PANC-1	pancreas:	n/a
35	chr3:20053708-20053758	NHDF-neo	bronchial:	n/a
36	chr3:20053708-20053758	K562	blood:	n/a
37	chr3:20053708-20053758	NHBE	bronchial:	n/a
38	chr3:20053708-20053758	SK-N-SH	brain:	n/a
39	chr3:20053708-20053758	HCPEpiC	choroid plexus:	n/a
40	chr3:20053708-20053758	RPTEC	kidney:	n/a
41	chr3:20053708-20053758	HL-60	blood:	n/a
42	chr3:20053708-20053758	MCF-7	breast:	n/a
43	chr3:20053708-20053758	HCT-116	colon:	n/a
44	chr3:20053708-20053758	PFSK-1	brain:	n/a
45	chr3:20053708-20053758	ECC-1	luminal epithelium:	n/a
46	chr3:20053708-20053758	HNPCEpiC	eye:	n/a
47	chr3:20053708-20053758	HPAEpiC	pulmonary alveolar:	n/a
48	chr3:20053708-20053758	PrEC	prostate:	n/a
49	chr3:20053708-20053758	GM12878	blood:	n/a
50	chr3:20053708-20053758	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20046912..20049769-chr3:20052524..20055370,2	K562	blood:
2	chr3:19991110..19993492-chr3:20053410..20056377,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFHB-4	chr3:20053542-20053765	NR_027694
2	lnc-EFHB-4	chr3:20053542-20053749	NONHSAT088608

No data

Variant related genes	Relation type
ENSG00000229468	TF binding region
ENSG00000230697	TF binding region
ENSG00000229468	CpG island
ENSG00000230697	CpG island
ENSG00000144566	Chromatin interaction
ENSG00000230697	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv979809	chr3:20052873-20056586	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:20052000-20056400	Weak transcription	Right Atrium	heart
2	chr3:20053600-20058000	Enhancers	K562	blood

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