Variant report

Variant	rs373484711
Chromosome Location	chr3:133292136-133292137
allele	A/G/T
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	POLR2A	chr3:133291520-133292988	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr3:133291165-133295546	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:133291837-133293023	H1-neurons	neurons:	n/a	n/a
4	MAX	chr3:133291743-133292841	SK-N-SH	brain:	n/a	n/a
5	MAX	chr3:133291743-133292747	MCF-7	breast:	n/a	n/a
6	PAX5	chr3:133291860-133292256	GM12878	blood:	n/a	n/a
7	GATA1	chr3:133291194-133292335	PBDE	blood:	n/a	chr3:133291719-133291732 chr3:133291721-133291729 chr3:133291323-133291333 chr3:133291394-133291403
8	NFATC1	chr3:133291260-133292209	GM12878	blood:	n/a	n/a
9	BCLAF1	chr3:133291095-133292241	GM12878	blood:	n/a	chr3:133291906-133291915 chr3:133291421-133291429 chr3:133291396-133291405 chr3:133291503-133291512
10	POLR2A	chr3:133291159-133293723	HUVEC	blood vessel:	n/a	n/a
11	JUND	chr3:133290875-133293721	GM12878	blood:	n/a	chr3:133291396-133291404 chr3:133291395-133291405 chr3:133292292-133292303 chr3:133292374-133292383 chr3:133291395-133291405 chr3:133291397-133291404 chr3:133291396-133291404 chr3:133292333-133292342
12	CTCF	chr3:133292040-133292190	GM12873	blood:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
13	CTCF	chr3:133292040-133292190	NHDF-neo	bronchial:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
14	CTCF	chr3:133292080-133292230	HCPEpiC	choroid plexus:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
15	IRF1	chr3:133291298-133292758	K562	blood:	n/a	chr3:133292260-133292274 chr3:133291496-133291513 chr3:133291704-133291713 chr3:133291502-133291512 chr3:133292350-133292364 chr3:133291395-133291404
16	GTF2F1	chr3:133291850-133292157	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr3:133291659-133292286	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr3:133291583-133294198	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:133291354-133293019	K562	blood:	n/a	n/a
20	POLR2A	chr3:133291835-133293519	MCF-7	breast:	n/a	n/a
21	CHD2	chr3:133291191-133292830	GM12878	blood:	n/a	chr3:133292262-133292272 chr3:133292366-133292376
22	POLR2A	chr3:133291826-133292256	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr3:133292060-133292210	AG09309	skin:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
24	POLR2A	chr3:133291855-133292213	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr3:133292040-133292190	HUVEC	blood vessel:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
26	MXI1	chr3:133291860-133294720	IMR90	lung:	n/a	n/a
27	CTCF	chr3:133292064-133292206	H1-hESC	embryonic stem cell:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
28	POLR2A	chr3:133291771-133293822	GM12878	blood:	n/a	n/a
29	CEBPB	chr3:133291321-133292258	IMR90	lung:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
30	SIN3AK20	chr3:133291862-133292201	SK-N-SH	brain:	n/a	n/a
31	NFYA	chr3:133291921-133292423	GM12878	blood:	n/a	chr3:133292331-133292346 chr3:133292331-133292346 chr3:133292334-133292344 chr3:133292202-133292217 chr3:133292201-133292213 chr3:133292202-133292217 chr3:133292202-133292216
32	CTCF	chr3:133292080-133292230	GM12867	blood:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
33	FOS	chr3:133291288-133292339	HUVEC	blood vessel:	n/a	chr3:133291396-133291404 chr3:133291395-133291405 chr3:133292292-133292303 chr3:133291394-133291405 chr3:133291395-133291405 chr3:133291397-133291404 chr3:133291396-133291404
34	CTCF	chr3:133291932-133292374	GM12878	blood:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
35	HCFC1	chr3:133291676-133292847	K562	blood:	n/a	n/a
36	CTCF	chr3:133292060-133292210	GM12865	blood:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
37	CTCF	chr3:133292000-133292150	A549	lung:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
38	STAT5A	chr3:133291183-133292209	GM12878	blood:	n/a	chr3:133291295-133291306
39	MAFK	chr3:133291605-133292319	HepG2	liver:	n/a	chr3:133291692-133291706
40	POLR2A	chr3:133291758-133293832	HUVEC	blood vessel:	n/a	n/a
41	SIN3AK20	chr3:133291937-133292181	HepG2	liver:	n/a	n/a
42	FOXA2	chr3:133291940-133292237	HepG2	liver:	n/a	n/a
43	CTCF	chr3:133292109-133292201	Spleen_OC	spleen:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
44	E2F6	chr3:133291951-133292219	K562	blood:	n/a	chr3:133292105-133292114 chr3:133292204-133292213
45	CTCF	chr3:133292080-133292230	GM12871	blood:	n/a	chr3:133292131-133292144 chr3:133292131-133292144
46	POLR2A	chr3:133291692-133292197	K562	blood:	n/a	n/a
47	HEY1	chr3:133291830-133292224	HepG2	liver:	n/a	n/a
48	POLR2A	chr3:133291012-133295811	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:133291234-133292240	GM12891	blood:	n/a	n/a
50	CTCF	chr3:133292060-133292210	WERI-Rb-1	eye:	n/a	chr3:133292131-133292144 chr3:133292131-133292144

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133292095-133292145	SK-N-SH	brain:	n/a
2	chr3:133292095-133292145	GM12892	blood:	n/a
3	chr3:133292095-133292145	AG10803	skin:	n/a
4	chr3:133292095-133292145	AoSMC	blood vessel:	n/a
5	chr3:133292095-133292145	HCT-116	colon:	n/a
6	chr3:133292095-133292145	NT2-D1	testis:	n/a
7	chr3:133292095-133292145	HEK293	kidney:	embryo
8	chr3:133292095-133292145	A549	lung:	n/a
9	chr3:133292095-133292145	Jurkat	blood:	n/a
10	chr3:133292095-133292145	GM19239	blood:	n/a
11	chr3:133292095-133292145	ovcar-3	ovarian:	n/a
12	chr3:133292095-133292145	HIPEpiC	eye:	n/a
13	chr3:133292095-133292145	HCM	heart:	n/a
14	chr3:133292095-133292145	SAEC	small airway:	n/a
15	chr3:133292095-133292145	AG09319	gingival:	n/a
16	chr3:133292095-133292145	HCF	heart:	n/a
17	chr3:133292095-133292145	HAEpiC	amniotic membrane:	n/a
18	chr3:133292095-133292145	HRE	kidney:	n/a
19	chr3:133292095-133292145	GM12878	blood:	n/a
20	chr3:133292095-133292145	BJ	skin:	n/a
21	chr3:133292095-133292145	ECC-1	luminal epithelium:	n/a
22	chr3:133292095-133292145	Caco-2	colon:	n/a
23	chr3:133292095-133292145	SKMC	muscle:	n/a
24	chr3:133292095-133292145	AG09309	skin:	n/a
25	chr3:133292095-133292145	HCPEpiC	choroid plexus:	n/a
26	chr3:133292095-133292145	NHBE	bronchial:	n/a
27	chr3:133292095-133292145	PANC-1	pancreas:	n/a
28	chr3:133292095-133292145	HMEC	breast:	n/a
29	chr3:133292095-133292145	HepG2	liver:	n/a
30	chr3:133292095-133292145	T-47D	breast:	n/a
31	chr3:133292095-133292145	CMK	blood:	n/a
32	chr3:133292095-133292145	SK-N-MC	brain:	n/a
33	chr3:133292095-133292145	HL-60	blood:	n/a
34	chr3:133292095-133292145	IMR90	lung:	fetal
35	chr3:133292095-133292145	AG04450	lung:	fetal
36	chr3:133292095-133292145	PrEC	prostate:	n/a
37	chr3:133292095-133292145	PFSK-1	brain:	n/a
38	chr3:133292095-133292145	U87	brain:	n/a
39	chr3:133292095-133292145	MCF10A-Er-Src	breast:	n/a
40	chr3:133292095-133292145	RPTEC	kidney:	n/a
41	chr3:133292095-133292145	AG04449	skin:	fetal
42	chr3:133292095-133292145	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:133292095-133292145	GM06990	blood:	n/a
44	chr3:133292095-133292145	HNPCEpiC	eye:	n/a
45	chr3:133292095-133292145	HRPEpiC	eye:	n/a
46	chr3:133292095-133292145	SK-N-SH_RA	brain:	n/a
47	chr3:133292095-133292145	GM12891	blood:	n/a
48	chr3:133292095-133292145	K562	blood:	n/a
49	chr3:133292095-133292145	HRCEpiC	kidney:	n/a
50	chr3:133292095-133292145	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133164640..133168534-chr3:133291750..133294077,5	MCF-7	breast:
2	chr21:38737416..38739692-chr3:133291408..133294289,2	MCF-7	breast:
3	chr3:133207179..133209818-chr3:133291516..133294111,3	MCF-7	breast:
4	chr3:132440102..132442906-chr3:133291126..133294877,5	K562	blood:
5	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
6	chr3:132439752..132442432-chr3:133291591..133294160,3	K562	blood:
7	chr3:133207094..133210649-chr3:133290648..133294454,4	MCF-7	breast:
8	chr3:133287190..133289166-chr3:133290175..133292220,2	K562	blood:

Variant related genes	Relation type
CDV3	TF binding region
CDV3	CpG island
ENSG00000170819	Chromatin interaction
ENSG00000248724	Chromatin interaction
ENSG00000249993	Chromatin interaction
ENSG00000214301	Chromatin interaction
ENSG00000113971	Chromatin interaction
ENSG00000157540	Chromatin interaction
ENSG00000273210	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817019	chr3:133290960-133293461	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
2	nsv591821	chr3:133290960-133293591	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	esv3393233	chr3:133291062-133294360	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	esv3356701	chr3:133291487-133294035	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
5	esv3331679	chr3:133291512-133294210	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	esv3423184	chr3:133291787-133294635	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
7	nsv591822	chr3:133292102-133293489	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv591823	chr3:133292102-133293618	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133288000-133292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:133289400-133292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:133289600-133292400	Weak transcription	Esophagus	oesophagus
4	chr3:133289600-133292400	Weak transcription	Lung	lung
5	chr3:133289800-133292400	Weak transcription	Small Intestine	intestine
6	chr3:133289800-133293200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:133290800-133292200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr3:133291000-133292200	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr3:133291000-133292200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr3:133291000-133292200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:133291000-133292200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:133291200-133292200	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr3:133291200-133292200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr3:133291200-133292200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:133291200-133292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:133291200-133294000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:133291400-133292200	Flanking Active TSS	Fetal Thymus	thymus
18	chr3:133291400-133292200	Flanking Active TSS	Dnd41	blood
19	chr3:133291400-133292200	Flanking Active TSS	K562	blood
20	chr3:133291400-133292400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:133291400-133293800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:133291600-133292200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr3:133291600-133292200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr3:133291600-133292200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr3:133291600-133292200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr3:133291600-133292200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:133291600-133292200	Flanking Active TSS	NHEK	skin
28	chr3:133291600-133292200	Flanking Active TSS	Osteobl	bone
29	chr3:133291600-133293600	Active TSS	Brain Cingulate Gyrus	brain
30	chr3:133291600-133293600	Active TSS	Brain Germinal Matrix	brain
31	chr3:133291600-133293600	Active TSS	Fetal Brain Female	brain
32	chr3:133291600-133293800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:133291600-133293800	Active TSS	Psoas Muscle	Psoas
34	chr3:133291600-133294000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:133291600-133294000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr3:133291600-133294000	Active TSS	Right Ventricle	heart
37	chr3:133291600-133294400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr3:133291600-133295000	Active TSS	Colonic Mucosa	Colon
39	chr3:133291600-133295000	Active TSS	Right Atrium	heart
40	chr3:133291800-133292200	Active TSS	Fetal Brain Male	brain
41	chr3:133291800-133292200	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr3:133291800-133292200	Flanking Active TSS	HMEC	breast
43	chr3:133291800-133293400	Active TSS	Brain Hippocampus Middle	brain
44	chr3:133291800-133293600	Active TSS	Liver	Liver
45	chr3:133291800-133293800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:133291800-133293800	Active TSS	Fetal Stomach	stomach
47	chr3:133291800-133293800	Active TSS	Thymus	Thymus
48	chr3:133291800-133293800	Active TSS	A549	lung
49	chr3:133291800-133294000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr3:133291800-133294000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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