Variant report

Variant	rs575274585
Chromosome Location	chr3:20081156-20081157
allele	A/C
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	TAF1	chr3:20081107-20081350	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:20081128-20083325	Raji	blood:	n/a	n/a
3	MAZ	chr3:20080789-20082657	GM12878	blood:	n/a	chr3:20080865-20080872 chr3:20081324-20081334 chr3:20081371-20081381
4	POLR2A	chr3:20081116-20083279	GM18526	blood:	n/a	n/a
5	IRF1	chr3:20080209-20081645	K562	blood:	n/a	chr3:20081139-20081153 chr3:20081139-20081149
6	CTCF	chr3:20081107-20081708	K562	blood:	n/a	chr3:20081459-20081469 chr3:20081385-20081393 chr3:20081385-20081398 chr3:20081462-20081471 chr3:20081456-20081474
7	RUNX3	chr3:20081156-20081826	GM12878	blood:	n/a	n/a
8	CTCF	chr3:20081068-20083345	K562	blood:	n/a	chr3:20081459-20081469 chr3:20082835-20082848 chr3:20082833-20082851 chr3:20081385-20081393 chr3:20081385-20081398 chr3:20081462-20081471 chr3:20081456-20081474
9	NR2F2	chr3:20080924-20081754	K562	blood:	n/a	n/a
10	POLR2A	chr3:20081119-20081849	GM12878	blood:	n/a	n/a
11	MXI1	chr3:20081079-20081733	K562	blood:	n/a	n/a
12	MAZ	chr3:20080936-20083371	IMR90	lung:	n/a	chr3:20081324-20081334 chr3:20081371-20081381 chr3:20083104-20083114
13	POLR2A	chr3:20081119-20081811	GM12892	blood:	n/a	n/a
14	ZNF143	chr3:20081156-20081162	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBL1XR1	chr3:20081054-20081728	GM12878	blood:	n/a	n/a
16	CTCF	chr3:20081035-20081782	MCF-7	breast:	n/a	chr3:20081459-20081469 chr3:20081385-20081393 chr3:20081385-20081398 chr3:20081462-20081471 chr3:20081456-20081474
17	POLR2A	chr3:20080965-20083309	GM18505	blood:	n/a	n/a
18	SMC3	chr3:20081099-20081686	GM12878	blood:	n/a	chr3:20081458-20081472 chr3:20081629-20081639
19	CTCF	chr3:20081119-20081838	K562	blood:	n/a	chr3:20081459-20081469 chr3:20081385-20081393 chr3:20081385-20081398 chr3:20081462-20081471 chr3:20081456-20081474
20	MYC	chr3:20080133-20083357	K562	blood:	n/a	chr3:20080865-20080872 chr3:20081324-20081334 chr3:20081371-20081381 chr3:20083104-20083114
21	MAZ	chr3:20080126-20083442	K562	blood:	n/a	chr3:20080865-20080872 chr3:20081324-20081334 chr3:20081371-20081381 chr3:20083104-20083114
22	CTCFL	chr3:20081114-20081593	K562	blood:	n/a	chr3:20081458-20081467
23	RCOR1	chr3:20081062-20081727	GM12878	blood:	n/a	n/a
24	CTCF	chr3:20080976-20082141	SK-N-SH	brain:	n/a	chr3:20081459-20081469 chr3:20081385-20081393 chr3:20081385-20081398 chr3:20081462-20081471 chr3:20081456-20081474
25	MXI1	chr3:20080006-20083810	SK-N-SH	brain:	n/a	n/a
26	STAT5A	chr3:20081094-20081612	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:20080494-20083438	GM12878	blood:	n/a	n/a
28	MAX	chr3:20081110-20083318	K562	blood:	n/a	chr3:20081324-20081334 chr3:20081371-20081381 chr3:20083104-20083114
29	MTA3	chr3:20081041-20081781	GM12878	blood:	n/a	n/a
30	CTCF	chr3:20081066-20083211	GM12878	blood:	n/a	chr3:20081459-20081469 chr3:20082835-20082848 chr3:20082833-20082851 chr3:20081385-20081393 chr3:20081385-20081398 chr3:20081462-20081471 chr3:20081456-20081474
31	ZNF384	chr3:20080818-20081683	K562	blood:	n/a	n/a
32	CTCF	chr3:20081100-20081250	GM12801	blood:	n/a	n/a
33	CBX3	chr3:20081107-20081822	K562	blood:	n/a	n/a
34	RCOR1	chr3:20081109-20081691	K562	blood:	n/a	n/a
35	FOXM1	chr3:20081030-20081740	GM12878	blood:	n/a	n/a
36	UBTF	chr3:20080217-20083312	K562	blood:	n/a	n/a
37	POLR2A	chr3:20081143-20083415	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr3:20081108-20081351	GM12878	blood:	n/a	n/a
39	MYC	chr3:20080199-20081783	NB4	blood:	n/a	chr3:20080865-20080872 chr3:20081324-20081334 chr3:20081371-20081381
40	BHLHE40	chr3:20081131-20081810	K562	blood:	n/a	chr3:20081686-20081702 chr3:20081683-20081699
41	TAL1	chr3:20081087-20081357	K562	blood:	n/a	n/a
42	POLR2A	chr3:20081145-20081338	GM12891	blood:	n/a	n/a
43	ELF1	chr3:20081125-20081675	K562	blood:	n/a	chr3:20081368-20081380
44	MAX	chr3:20081055-20081742	GM12878	blood:	n/a	chr3:20081324-20081334 chr3:20081371-20081381
45	MXI1	chr3:20080332-20083378	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:20081135-20081795	K562	blood:	n/a	n/a
47	SIN3A	chr3:20081142-20083433	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr3:20081080-20082597	GM19099	blood:	n/a	n/a
49	RCOR1	chr3:20081150-20083344	K562	blood:	n/a	n/a
50	EP300	chr3:20080123-20081647	K562	blood:	n/a	chr3:20080782-20080796

No.	Distal block	Cell Line	Cell type
1	chr3:20079279..20082964-chr3:20226299..20229620,6	K562	blood:
2	chr3:20079527..20082964-chr3:20226742..20229620,4	K562	blood:
3	chr3:20036427..20038510-chr3:20080865..20083451,2	K562	blood:
4	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
5	chr3:19986985..19992254-chr3:20079680..20083856,14	K562	blood:
6	chr3:19987513..19990087-chr3:20080861..20083140,3	MCF-7	breast:
7	chr3:19986921..19992254-chr3:20078952..20084327,16	K562	blood:

Variant related genes	Relation type
KAT2B	TF binding region
ENSG00000144566	Chromatin interaction
ENSG00000129810	Chromatin interaction
ENSG00000163576	Chromatin interaction
ENSG00000201545	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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv3396791	chr3:20080148-20083246	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv3426803	chr3:20080473-20083321	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20080000-20081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr3:20080000-20083200	Active TSS	Aorta	Aorta
3	chr3:20080200-20081200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr3:20080200-20081400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr3:20080200-20083200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:20080200-20083200	Active TSS	Left Ventricle	heart
7	chr3:20080200-20083200	Active TSS	Ovary	ovary
8	chr3:20080200-20083200	Active TSS	NHLF	lung
9	chr3:20080200-20083400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr3:20080200-20083400	Active TSS	Colon Smooth Muscle	Colon
11	chr3:20080400-20081200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:20080400-20081200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr3:20080400-20081200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr3:20080400-20081200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr3:20080400-20081200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:20080400-20081200	Flanking Active TSS	Hela-S3	cervix
17	chr3:20080400-20081800	Active TSS	Right Atrium	heart
18	chr3:20080400-20082400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:20080400-20082600	Active TSS	Brain Germinal Matrix	brain
20	chr3:20080400-20082600	Active TSS	Colonic Mucosa	Colon
21	chr3:20080400-20082800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:20080400-20083200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr3:20080400-20083200	Active TSS	Fetal Brain Female	brain
24	chr3:20080400-20083200	Active TSS	Fetal Kidney	kidney
25	chr3:20080400-20083200	Active TSS	Rectal Smooth Muscle	rectum
26	chr3:20080400-20083400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:20080400-20083400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr3:20080400-20083400	Active TSS	Psoas Muscle	Psoas
29	chr3:20080400-20083600	Active TSS	Right Ventricle	heart
30	chr3:20080400-20083800	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr3:20080600-20081200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr3:20080600-20081200	Weak transcription	Small Intestine	intestine
33	chr3:20080600-20081200	Flanking Active TSS	NH-A	brain
34	chr3:20080600-20081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:20080600-20081400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:20080600-20081600	Active TSS	Fetal Heart	heart
37	chr3:20080600-20082200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr3:20080600-20082400	Active TSS	Fetal Muscle Trunk	muscle
39	chr3:20080600-20082600	Active TSS	Placenta	Placenta
40	chr3:20080600-20082600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr3:20080600-20082600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr3:20080600-20082800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:20080600-20082800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr3:20080600-20082800	Active TSS	Stomach Smooth Muscle	stomach
45	chr3:20080600-20083000	Active TSS	Duodenum Mucosa	Duodenum
46	chr3:20080600-20083200	Active TSS	Brain Substantia Nigra	brain
47	chr3:20080600-20083200	Active TSS	Lung	lung
48	chr3:20080600-20083200	Active TSS	Stomach Mucosa	stomach
49	chr3:20080600-20083200	Active TSS	GM12878-XiMat	blood
50	chr3:20080600-20083200	Active TSS	NHDF-Ad	bronchial

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