Variant report

Variant	rs534801540
Chromosome Location	chr3:138666666-138666667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr3:138666445-138666680	K562	blood:	n/a	n/a
2	TBL1XR1	chr3:138666427-138666933	K562	blood:	n/a	n/a
3	SMARCB1	chr3:138664989-138666842	Hela-S3	cervix:	n/a	n/a
4	MAZ	chr3:138665017-138666795	K562	blood:	n/a	chr3:138666114-138666124
5	MAFK	chr3:138666404-138666895	K562	blood:	n/a	n/a
6	CTCF	chr3:138666211-138666690	K562	blood:	n/a	n/a
7	POLR2A	chr3:138664890-138666825	K562	blood:	n/a	n/a
8	TBP	chr3:138664919-138666740	K562	blood:	n/a	n/a
9	MAX	chr3:138663821-138666675	K562	blood:	n/a	chr3:138666114-138666124
10	RCOR1	chr3:138665037-138666727	K562	blood:	n/a	n/a
11	UBTF	chr3:138664715-138666727	K562	blood:	n/a	n/a
12	POLR2A	chr3:138665608-138666744	Hela-S3	cervix:	n/a	n/a
13	MYC	chr3:138665617-138666775	K562	blood:	n/a	chr3:138666114-138666124
14	POLR2A	chr3:138664719-138666765	K562	blood:	n/a	n/a
15	MAX	chr3:138663637-138666899	K562	blood:	n/a	chr3:138666114-138666124
16	CHD2	chr3:138666639-138666740	K562	blood:	n/a	n/a
17	ELK1	chr3:138666548-138666698	K562	blood:	n/a	n/a
18	RCOR1	chr3:138666622-138666810	K562	blood:	n/a	n/a
19	SUZ12	chr3:138666430-138666921	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr3:138666552-138667023	K562	blood:	n/a	n/a
21	MYC	chr3:138662705-138666843	K562	blood:	n/a	chr3:138666114-138666124
22	JUND	chr3:138665643-138666689	K562	blood:	n/a	chr3:138666034-138666043 chr3:138665890-138665899
23	JUN	chr3:138664800-138666967	K562	blood:	n/a	chr3:138666034-138666043 chr3:138665890-138665899
24	MAZ	chr3:138665021-138666670	Hela-S3	cervix:	n/a	chr3:138666114-138666124
25	MAFF	chr3:138666473-138666846	K562	blood:	n/a	n/a
26	POLR2A	chr3:138664736-138666880	K562	blood:	n/a	n/a
27	UBTF	chr3:138664735-138666913	K562	blood:	n/a	n/a
28	E2F6	chr3:138663731-138667013	K562	blood:	n/a	chr3:138666110-138666120 chr3:138665889-138665898
29	RCOR1	chr3:138666638-138666682	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:138664603-138666834	K562	blood:	n/a	n/a
31	BHLHE40	chr3:138665062-138666787	K562	blood:	n/a	chr3:138665604-138665620
32	CTBP2	chr3:138663148-138666770	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr3:138664745-138666712	K562	blood:	n/a	n/a
34	POLR2A	chr3:138664901-138666764	Hela-S3	cervix:	n/a	n/a
35	SUZ12	chr3:138662343-138670118	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138552263..138555163-chr3:138665790..138667540,3	K562	blood:
2	chr3:138552568..138555141-chr3:138666105..138668600,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS22-3	chr3:138666454-138666849	NONHSAT092347

Variant related genes	Relation type
ENSG00000244578	TF binding region
FOXL2	TF binding region
ENSG00000051382	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877540	chr3:138645013-138670695	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv877541	chr3:138645013-138673922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv529311	chr3:138665250-138667190	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138663600-138666800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr3:138664400-138666800	Active TSS	NHDF-Ad	bronchial
3	chr3:138664600-138668800	Active TSS	Ovary	ovary
4	chr3:138665400-138666800	Bivalent Enhancer	Liver	Liver
5	chr3:138666000-138666800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr3:138666000-138666800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr3:138666200-138666800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:138666200-138666800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr3:138666200-138666800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr3:138666200-138666800	Enhancers	Gastric	stomach
11	chr3:138666200-138666800	Enhancers	Pancreas	Pancrea
12	chr3:138666200-138666800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
13	chr3:138666400-138666800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr3:138666400-138666800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:138666400-138666800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr3:138666400-138666800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:138666400-138666800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:138666400-138666800	Bivalent Enhancer	Fetal Brain Female	brain
19	chr3:138666400-138668600	Weak transcription	Lung	lung
20	chr3:138666600-138666800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
21	chr3:138666600-138666800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
22	chr3:138666600-138666800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:138666600-138666800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr3:138666600-138666800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr3:138666600-138666800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:138666600-138666800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:138666600-138666800	Bivalent Enhancer	HepG2	liver
28	chr3:138666600-138667000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr3:138666600-138667200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr3:138666600-138667200	Flanking Active TSS	K562	blood
31	chr3:138666600-138667400	Flanking Active TSS	Hela-S3	cervix
32	chr3:138666600-138668400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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