Variant report

Variant	rs112219780
Chromosome Location	chr3:53079306-53079307
allele	C/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	MAZ	chr3:53078861-53081185	GM12878	blood:	n/a	n/a
2	CREB1	chr3:53079009-53079348	A549	lung:	n/a	n/a
3	MAX	chr3:53078739-53080587	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr3:53078923-53079454	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr3:53078724-53081152	GM12892	blood:	n/a	n/a
6	PAX5	chr3:53079043-53079605	GM12892	blood:	n/a	n/a
7	POLR2A	chr3:53078745-53081057	GM19099	blood:	n/a	n/a
8	ZBTB7A	chr3:53078875-53079330	ECC-1	luminal epithelium:	n/a	n/a
9	TAF1	chr3:53078918-53079328	GM12878	blood:	n/a	n/a
10	HMGN3	chr3:53078698-53080815	K562	blood:	n/a	n/a
11	POLR2A	chr3:53079051-53080741	A549	lung:	n/a	n/a
12	POLR2A	chr3:53079098-53080262	K562	blood:	n/a	n/a
13	POLR2A	chr3:53079137-53079362	A549	lung:	n/a	n/a
14	POLR2A	chr3:53079169-53079315	HepG2	liver:	n/a	n/a
15	POLR2A	chr3:53079163-53080857	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr3:53078993-53080976	GM19193	blood:	n/a	n/a
17	E2F6	chr3:53078744-53080891	K562	blood:	n/a	chr3:53080114-53080123 chr3:53078962-53078977 chr3:53080104-53080113
18	YY1	chr3:53079005-53079506	HepG2	liver:	n/a	chr3:53079439-53079453
19	HA-E2F1	chr3:53079166-53080752	Hela-S3	cervix:	n/a	chr3:53080114-53080123 chr3:53080104-53080113
20	POLR2A	chr3:53079081-53079332	ProgFib	skin:	n/a	n/a
21	TAF1	chr3:53079081-53079312	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr3:53079061-53080476	HepG2	liver:	n/a	n/a
23	POLR2A	chr3:53078987-53080543	K562	blood:	n/a	n/a
24	POLR2A	chr3:53079062-53080421	K562	blood:	n/a	n/a
25	POLR2A	chr3:53078830-53080358	Gliobla	brain:	n/a	n/a
26	POLR2A	chr3:53079146-53079595	GM12878	blood:	n/a	n/a
27	ZBTB7A	chr3:53079036-53079428	K562	blood:	n/a	n/a
28	YY1	chr3:53078763-53079579	GM12878	blood:	n/a	chr3:53079499-53079513 chr3:53079439-53079453
29	POLR2A	chr3:53078759-53079392	HL-60	blood:	n/a	n/a
30	POLR2A	chr3:53079167-53079315	A549	lung:	n/a	n/a
31	HEY1	chr3:53079137-53079348	K562	blood:	n/a	n/a
32	POLR2A	chr3:53078882-53079319	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr3:53078944-53080388	HEK293	kidney:	n/a	n/a
34	POLR2A	chr3:53079094-53079337	A549	lung:	n/a	n/a
35	POLR2A	chr3:53078794-53079332	HepG2	liver:	n/a	n/a
36	POLR2A	chr3:53079163-53079339	K562	blood:	n/a	n/a
37	POLR2A	chr3:53079116-53079412	HUVEC	blood vessel:	n/a	n/a
38	TBP	chr3:53079159-53079369	K562	blood:	n/a	n/a
39	POLR2A	chr3:53078768-53081151	MCF-7	breast:	n/a	n/a
40	MAZ	chr3:53078954-53080941	IMR90	lung:	n/a	n/a
41	UBTF	chr3:53078279-53079593	K562	blood:	n/a	n/a
42	UBTF	chr3:53078791-53079475	K562	blood:	n/a	n/a
43	POLR2A	chr3:53079047-53079367	HCT-116	colon:	n/a	n/a
44	TAF1	chr3:53079095-53079597	HepG2	liver:	n/a	n/a
45	ZNF143	chr3:53078828-53079593	GM12878	blood:	n/a	chr3:53079453-53079463
46	CCNT2	chr3:53079023-53080645	K562	blood:	n/a	chr3:53080122-53080131
47	POLR2A	chr3:53079052-53080311	NB4	blood:	n/a	n/a
48	POLR2A	chr3:53079103-53080850	GM10847	blood:	n/a	n/a
49	YY1	chr3:53078733-53079338	GM12891	blood:	n/a	n/a
50	POLR2A	chr3:53079078-53081103	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:46273919..46274424-chr3:53078893..53079893,2	Hela-S3	cervix:

Variant related genes	Relation type
SFMBT1	TF binding region
ENSG00000267395	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv590341	chr3:53077372-53079522	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv590342	chr3:53077372-53079888	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3341503	chr3:53078462-53080760	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3461090	chr3:53078737-53081285	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv20159	chr3:53078811-53080407	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv1807284	chr3:53078838-53080351	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1840185	chr3:53078838-53080351	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv590343	chr3:53078892-53080351	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3461089	chr3:53078962-53080610	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3461091	chr3:53078962-53080610	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv590344	chr3:53079048-53079991	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv590345	chr3:53079048-53080097	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv590346	chr3:53079048-53080351	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv590347	chr3:53079048-53088815	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv590348	chr3:53079101-53080097	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv590349	chr3:53079101-53080254	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	esv1798557	chr3:53079101-53080351	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv1803812	chr3:53079101-53080351	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv1804993	chr3:53079101-53080351	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv1824004	chr3:53079101-53080351	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	esv1828710	chr3:53079101-53080351	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	esv1839794	chr3:53079101-53080351	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
28	esv1841778	chr3:53079101-53080351	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	esv1842789	chr3:53079101-53080351	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	esv1849809	chr3:53079101-53080351	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	esv1851359	chr3:53079101-53080351	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv590350	chr3:53079101-53080351	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv590351	chr3:53079152-53080254	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	esv1807290	chr3:53079152-53080351	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv590352	chr3:53079152-53080351	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	nsv590353	chr3:53079268-53080254	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
37	nsv590354	chr3:53079268-53080351	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53077800-53080800	Active TSS	Right Atrium	heart
2	chr3:53078000-53081200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:53078200-53080200	Active TSS	Colonic Mucosa	Colon
4	chr3:53078200-53080800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:53078200-53080800	Active TSS	Small Intestine	intestine
6	chr3:53078200-53081200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr3:53078400-53079800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:53078400-53079800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:53078400-53080200	Active TSS	Right Ventricle	heart
10	chr3:53078400-53080600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr3:53078400-53080600	Active TSS	Placenta	Placenta
12	chr3:53078400-53080600	Active TSS	Pancreas	Pancrea
13	chr3:53078400-53080800	Active TSS	Esophagus	oesophagus
14	chr3:53078400-53081200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr3:53078400-53081200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:53078400-53081200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:53078600-53079800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:53078600-53079800	Active TSS	Fetal Muscle Leg	muscle
19	chr3:53078600-53080200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:53078600-53080200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:53078600-53080400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:53078600-53080400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr3:53078600-53080400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:53078600-53080400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr3:53078600-53080400	Active TSS	Gastric	stomach
26	chr3:53078600-53080400	Active TSS	Left Ventricle	heart
27	chr3:53078600-53080400	Active TSS	GM12878-XiMat	blood
28	chr3:53078600-53080600	Active TSS	Brain Hippocampus Middle	brain
29	chr3:53078600-53080600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr3:53078600-53080600	Active TSS	Psoas Muscle	Psoas
31	chr3:53078600-53080800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr3:53078600-53080800	Active TSS	Brain Cingulate Gyrus	brain
33	chr3:53078600-53080800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:53078600-53080800	Active TSS	Fetal Intestine Small	intestine
35	chr3:53078600-53080800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr3:53078600-53080800	Active TSS	HSMMtube	muscle
37	chr3:53078600-53081000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr3:53078600-53081000	Active TSS	Aorta	Aorta
39	chr3:53078600-53081000	Active TSS	Colon Smooth Muscle	Colon
40	chr3:53078600-53081000	Active TSS	Ovary	ovary
41	chr3:53078600-53081200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr3:53078600-53081200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:53078600-53081200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:53078600-53081200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:53078600-53081200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr3:53078600-53081200	Active TSS	HSMM	muscle
47	chr3:53078600-53081400	Active TSS	Fetal Intestine Large	intestine
48	chr3:53078600-53081400	Active TSS	A549	lung
49	chr3:53078600-53081800	Active TSS	Rectal Smooth Muscle	rectum
50	chr3:53078800-53079800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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