Variant report

Variant	rs529595638
Chromosome Location	chr3:133292541-133292542
allele	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	MYC	chr3:133292539-133292631	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr3:133291165-133295546	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:133292311-133293535	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:133291837-133293023	H1-neurons	neurons:	n/a	n/a
6	MAX	chr3:133291743-133292841	SK-N-SH	brain:	n/a	n/a
7	MAX	chr3:133291743-133292747	MCF-7	breast:	n/a	n/a
8	MYC	chr3:133292483-133292883	K562	blood:	n/a	n/a
9	PAX5	chr3:133292354-133293485	GM12892	blood:	n/a	chr3:133292514-133292523
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	PML	chr3:133292339-133292696	K562	blood:	n/a	n/a
13	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
14	RUNX3	chr3:133292387-133292856	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr3:133292432-133292824	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:133292270-133293804	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr3:133291583-133294198	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:133291354-133293019	K562	blood:	n/a	n/a
19	POLR2A	chr3:133291835-133293519	MCF-7	breast:	n/a	n/a
20	CHD2	chr3:133291191-133292830	GM12878	blood:	n/a	chr3:133292262-133292272 chr3:133292366-133292376
21	POLR2A	chr3:133292348-133292995	K562	blood:	n/a	n/a
22	MXI1	chr3:133291860-133294720	IMR90	lung:	n/a	n/a
23	POLR2A	chr3:133292395-133293485	A549	lung:	n/a	n/a
24	POLR2A	chr3:133291771-133293822	GM12878	blood:	n/a	n/a
25	HCFC1	chr3:133291676-133292847	K562	blood:	n/a	n/a
26	JUND	chr3:133292410-133292977	A549	lung:	n/a	n/a
27	POLR2A	chr3:133291758-133293832	HUVEC	blood vessel:	n/a	n/a
28	JUND	chr3:133292481-133292916	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr3:133292541-133292882	H1-hESC	embryonic stem cell:	n/a	chr3:133292663-133292679
30	POLR2A	chr3:133291012-133295811	GM12878	blood:	n/a	n/a
31	CHD1	chr3:133292466-133295357	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:133292360-133292945	HepG2	liver:	n/a	n/a
33	POLR2A	chr3:133292377-133294515	GM12891	blood:	n/a	n/a
34	CCNT2	chr3:133291928-133293606	K562	blood:	n/a	chr3:133292264-133292273
35	HEY1	chr3:133292328-133293912	K562	blood:	n/a	chr3:133292641-133292656 chr3:133292663-133292678 chr3:133292675-133292690 chr3:133292624-133292639
36	MYC	chr3:133291930-133292844	MCF-7	breast:	n/a	n/a
37	POLR2A	chr3:133292324-133293045	HepG2	liver:	n/a	n/a
38	POLR2A	chr3:133291200-133293539	GM10847	blood:	n/a	n/a
39	POLR2A	chr3:133291624-133293945	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr3:133291780-133293897	Hela-S3	cervix:	n/a	n/a
41	POU2F2	chr3:133290845-133293004	GM12878	blood:	n/a	chr3:133292242-133292252 chr3:133292242-133292252 chr3:133292243-133292253 chr3:133291484-133291494 chr3:133292243-133292254 chr3:133291485-133291493 chr3:133292238-133292259 chr3:133292237-133292259 chr3:133292239-133292257 chr3:133291481-133291494 chr3:133292244-133292252 chr3:133291480-133291498
42	POLR2A	chr3:133292421-133292966	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr3:133291469-133294517	IMR90	lung:	n/a	n/a
44	RELA	chr3:133291044-133292965	GM15510	blood:	n/a	n/a
45	POLR2A	chr3:133291399-133292985	PFSK-1	brain:	n/a	n/a
46	TAF1	chr3:133292474-133292957	GM12891	blood:	n/a	n/a
47	BHLHE40	chr3:133291182-133293907	GM12878	blood:	n/a	chr3:133292670-133292686 chr3:133292636-133292652 chr3:133292628-133292644
48	POLR2A	chr3:133292289-133293031	ECC-1	luminal epithelium:	n/a	n/a
49	SIN3AK20	chr3:133292451-133292713	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr3:133291102-133294602	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133292540-133292590	HMEC	breast:	n/a
2	chr3:133292540-133292590	BE2_C	brain:	n/a
3	chr3:133292540-133292590	CMK	blood:	n/a
4	chr3:133292540-133292590	IMR90	lung:	fetal
5	chr3:133292540-133292590	HAEpiC	amniotic membrane:	n/a
6	chr3:133292540-133292590	GM06990	blood:	n/a
7	chr3:133292540-133292590	HepG2	liver:	n/a
8	chr3:133292540-133292590	MCF10A-Er-Src	breast:	n/a
9	chr3:133292540-133292590	HEEpiC	esophagus:	n/a
10	chr3:133292540-133292590	HNPCEpiC	eye:	n/a
11	chr3:133292540-133292590	SAEC	small airway:	n/a
12	chr3:133292540-133292590	MCF-7	breast:	n/a
13	chr3:133292540-133292590	PFSK-1	brain:	n/a
14	chr3:133292540-133292590	AoSMC	blood vessel:	n/a
15	chr3:133292540-133292590	NHBE	bronchial:	n/a
16	chr3:133292540-133292590	HRE	kidney:	n/a
17	chr3:133292540-133292590	PrEC	prostate:	n/a
18	chr3:133292540-133292590	LNCaP	prostate:	n/a
19	chr3:133292540-133292590	ProgFib	skin:	n/a
20	chr3:133292540-133292590	HRPEpiC	eye:	n/a
21	chr3:133292540-133292590	GM12891	blood:	n/a
22	chr3:133292540-133292590	NH-A	brain:	n/a
23	chr3:133292540-133292590	AG04450	lung:	fetal
24	chr3:133292540-133292590	HCF	heart:	n/a
25	chr3:133292540-133292590	GM12878	blood:	n/a
26	chr3:133292540-133292590	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:133292540-133292590	HCM	heart:	n/a
28	chr3:133292540-133292590	HCPEpiC	choroid plexus:	n/a
29	chr3:133292540-133292590	T-47D	breast:	n/a
30	chr3:133292540-133292590	GM19239	blood:	n/a
31	chr3:133292540-133292590	AG09309	skin:	n/a
32	chr3:133292540-133292590	Jurkat	blood:	n/a
33	chr3:133292540-133292590	HRCEpiC	kidney:	n/a
34	chr3:133292540-133292590	ECC-1	luminal epithelium:	n/a
35	chr3:133292540-133292590	NT2-D1	testis:	n/a
36	chr3:133292540-133292590	A549	lung:	n/a
37	chr3:133292540-133292590	SKMC	muscle:	n/a
38	chr3:133292540-133292590	HEK293	kidney:	embryo
39	chr3:133292540-133292590	RPTEC	kidney:	n/a
40	chr3:133292540-133292590	NHDF-neo	bronchial:	n/a
41	chr3:133292540-133292590	Caco-2	colon:	n/a
42	chr3:133292540-133292590	BJ	skin:	n/a
43	chr3:133292540-133292590	H1-hESC	embryonic stem cell:	embryo
44	chr3:133292540-133292590	AG04449	skin:	fetal
45	chr3:133292540-133292590	Hela-S3	cervix:	n/a
46	chr3:133292540-133292590	AG09319	gingival:	n/a
47	chr3:133292540-133292590	HIPEpiC	eye:	n/a
48	chr3:133292540-133292590	NB4	blood:	n/a
49	chr3:133292540-133292590	HL-60	blood:	n/a
50	chr3:133292540-133292590	U87	brain:	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	chr12:123380262..123380795-chr3:133292200..133293035,2	Hela-S3	cervix:
7	chr3:132439752..132442432-chr3:133291591..133294160,3	K562	blood:
8	chr3:133207094..133210649-chr3:133290648..133294454,4	MCF-7	breast:
9	chr3:133292322..133293201-chr3:142314859..142315610,2	HCT-116	colon:

Variant related genes	Relation type
CDV3	TF binding region
CDV3	CpG island
ENSG00000170819	Chromatin interaction
ENSG00000249993	Chromatin interaction
ENSG00000273210	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000157540	Chromatin interaction
ENSG00000214301	Chromatin interaction
ENSG00000113971	Chromatin interaction
ENSG00000248724	Chromatin interaction
ENSG00000120756	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133289400-133292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:133289800-133293200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:133291200-133294000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:133291400-133293800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:133291600-133293600	Active TSS	Brain Cingulate Gyrus	brain
6	chr3:133291600-133293600	Active TSS	Brain Germinal Matrix	brain
7	chr3:133291600-133293600	Active TSS	Fetal Brain Female	brain
8	chr3:133291600-133293800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:133291600-133293800	Active TSS	Psoas Muscle	Psoas
10	chr3:133291600-133294000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:133291600-133294000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr3:133291600-133294000	Active TSS	Right Ventricle	heart
13	chr3:133291600-133294400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr3:133291600-133295000	Active TSS	Colonic Mucosa	Colon
15	chr3:133291600-133295000	Active TSS	Right Atrium	heart
16	chr3:133291800-133293400	Active TSS	Brain Hippocampus Middle	brain
17	chr3:133291800-133293600	Active TSS	Liver	Liver
18	chr3:133291800-133293800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:133291800-133293800	Active TSS	Fetal Stomach	stomach
20	chr3:133291800-133293800	Active TSS	Thymus	Thymus
21	chr3:133291800-133293800	Active TSS	A549	lung
22	chr3:133291800-133294000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:133291800-133294000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:133291800-133294000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:133291800-133294200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:133291800-133294200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:133291800-133294200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:133291800-133294200	Active TSS	Fetal Muscle Trunk	muscle
29	chr3:133291800-133294200	Active TSS	Ovary	ovary
30	chr3:133291800-133294200	Active TSS	Pancreas	Pancrea
31	chr3:133291800-133294800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:133291800-133295000	Active TSS	Left Ventricle	heart
33	chr3:133291800-133295400	Active TSS	Aorta	Aorta
34	chr3:133292000-133292600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:133292000-133293200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr3:133292000-133293200	Weak transcription	Fetal Heart	heart
37	chr3:133292000-133293400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:133292000-133293400	Active TSS	Primary B cells from cord blood	blood
39	chr3:133292000-133293400	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr3:133292000-133293400	Weak transcription	Stomach Mucosa	stomach
41	chr3:133292000-133293600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:133292000-133293600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:133292000-133293600	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr3:133292000-133293600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:133292000-133293600	Active TSS	Adipose Nuclei	Adipose
46	chr3:133292000-133293600	Active TSS	Brain Anterior Caudate	brain
47	chr3:133292000-133293600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr3:133292000-133293600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:133292000-133293600	Active TSS	Brain Substantia Nigra	brain
50	chr3:133292000-133293600	Active TSS	Colon Smooth Muscle	Colon

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