Variant report

Variant	rs111421640
Chromosome Location	chr3:51705085-51705086
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	EP300	chr3:51704694-51705112	T-47D	breast:	n/a	n/a
2	CEBPD	chr3:51705071-51705427	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:51704970-51706186	GM12878	blood:	n/a	n/a
4	PAX5	chr3:51704987-51705660	GM12892	blood:	n/a	chr3:51705167-51705176
5	CEBPB	chr3:51704876-51705218	IMR90	lung:	n/a	n/a
6	MYC	chr3:51704835-51705276	MCF10A-Er-Src	breast:	n/a	chr3:51705119-51705128 chr3:51705123-51705132
7	NRF1	chr3:51704810-51706666	SK-N-SH	brain:	n/a	chr3:51705859-51705868 chr3:51705235-51705246 chr3:51705163-51705177 chr3:51705217-51705228 chr3:51705166-51705175 chr3:51705263-51705274 chr3:51705166-51705177
8	POLR2A	chr3:51704829-51706272	MCF-7	breast:	n/a	n/a
9	POLR2A	chr3:51704884-51706176	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr3:51705001-51706273	K562	blood:	n/a	n/a
11	TAF1	chr3:51705046-51705477	H1-hESC	embryonic stem cell:	n/a	n/a
12	EP300	chr3:51704998-51706090	GM12878	blood:	n/a	chr3:51705845-51705861 chr3:51705764-51705773
13	POLR2A	chr3:51704870-51706245	HCT-116	colon:	n/a	n/a
14	MAX	chr3:51704953-51706188	A549	lung:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
15	TAF1	chr3:51705078-51705428	PFSK-1	brain:	n/a	n/a
16	YY1	chr3:51705054-51705368	K562	blood:	n/a	chr3:51705145-51705159
17	MAX	chr3:51704848-51706190	MCF-7	breast:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
18	USF2	chr3:51705043-51705301	GM12878	blood:	n/a	n/a
19	TCF7L2	chr3:51704961-51706084	HCT-116	colon:	n/a	n/a
20	TCF12	chr3:51704787-51706171	ECC-1	luminal epithelium:	n/a	chr3:51705450-51705457
21	MYC	chr3:51705000-51706111	K562	blood:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
22	HEY1	chr3:51705040-51706317	HepG2	liver:	n/a	chr3:51705162-51705177 chr3:51706260-51706275
23	EGR1	chr3:51705037-51705382	GM12878	blood:	n/a	chr3:51705166-51705175 chr3:51705167-51705176 chr3:51705203-51705217
24	POLR2A	chr3:51704824-51706185	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr3:51705062-51705255	H1-hESC	embryonic stem cell:	n/a	chr3:51705117-51705132 chr3:51705119-51705134
26	POLR2A	chr3:51704738-51706189	HL-60	blood:	n/a	n/a
27	HDAC2	chr3:51704902-51705573	K562	blood:	n/a	chr3:51705166-51705175
28	POLR2A	chr3:51705043-51706156	K562	blood:	n/a	n/a
29	CEBPB	chr3:51704919-51705121	MCF-7	breast:	n/a	n/a
30	RCOR1	chr3:51704839-51706186	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr3:51705055-51705474	HepG2	liver:	n/a	n/a
32	FOSL2	chr3:51704907-51705476	HepG2	liver:	n/a	n/a
33	POLR2A	chr3:51704856-51706329	GM18526	blood:	n/a	n/a
34	MYC	chr3:51704965-51706267	K562	blood:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
35	TCF7L2	chr3:51704964-51705984	Hela-S3	cervix:	n/a	n/a
36	YY1	chr3:51705032-51705967	GM12878	blood:	n/a	chr3:51705762-51705771 chr3:51705410-51705419 chr3:51705145-51705159 chr3:51705850-51705861 chr3:51705853-51705862 chr3:51705841-51705855 chr3:51705956-51705967
37	POLR2A	chr3:51704963-51706228	HCT-116	colon:	n/a	n/a
38	MAX	chr3:51704855-51706080	K562	blood:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
39	RUNX3	chr3:51704784-51705717	GM12878	blood:	n/a	n/a
40	HA-E2F1	chr3:51704817-51706155	Hela-S3	cervix:	n/a	chr3:51705167-51705176 chr3:51705058-51705070
41	SIN3A	chr3:51704910-51706277	GM12878	blood:	n/a	chr3:51705991-51706004 chr3:51705457-51705470 chr3:51705847-51705858
42	POLR2A	chr3:51704684-51706405	GM18505	blood:	n/a	n/a
43	CEBPB	chr3:51704818-51705139	A549	lung:	n/a	n/a
44	RELA	chr3:51705085-51706254	GM18951	blood:	n/a	n/a
45	CHD2	chr3:51704860-51706118	Hela-S3	cervix:	n/a	n/a
46	SRF	chr3:51705068-51705372	GM12878	blood:	n/a	chr3:51705307-51705317
47	BHLHE40	chr3:51704957-51706193	HepG2	liver:	n/a	chr3:51705859-51705872 chr3:51705525-51705541 chr3:51705996-51706012
48	POLR2A	chr3:51704953-51706316	K562	blood:	n/a	n/a
49	ELF1	chr3:51704931-51706067	K562	blood:	n/a	chr3:51705524-51705536 chr3:51705147-51705159 chr3:51705853-51705862
50	POLR2A	chr3:51704948-51706193	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:51705063-51705113	BJ	skin:	n/a
2	chr3:51705085-51705135	PrEC	prostate:	n/a
3	chr3:51705045-51705095	SKMC	muscle:	n/a
4	chr3:51705063-51705113	HMEC	breast:	n/a
5	chr3:51705063-51705113	AG04450	lung:	fetal
6	chr3:51705085-51705135	HCT-116	colon:	n/a
7	chr3:51705085-51705135	NH-A	brain:	n/a
8	chr3:51705045-51705095	SK-N-SH	brain:	n/a
9	chr3:51705085-51705135	NHDF-neo	bronchial:	n/a
10	chr3:51705063-51705113	GM12891	blood:	n/a
11	chr3:51705063-51705113	T-47D	breast:	n/a
12	chr3:51705085-51705135	HRCEpiC	kidney:	n/a
13	chr3:51705085-51705135	MCF10A-Er-Src	breast:	n/a
14	chr3:51705045-51705095	HPAEpiC	pulmonary alveolar:	n/a
15	chr3:51705085-51705135	HPAEpiC	pulmonary alveolar:	n/a
16	chr3:51705085-51705135	SAEC	small airway:	n/a
17	chr3:51705085-51705135	PFSK-1	brain:	n/a
18	chr3:51705085-51705135	AG04450	lung:	fetal
19	chr3:51705063-51705113	A549	lung:	n/a
20	chr3:51705063-51705113	SK-N-SH_RA	brain:	n/a
21	chr3:51705045-51705095	GM12878	blood:	n/a
22	chr3:51705085-51705135	HCM	heart:	n/a
23	chr3:51705063-51705113	HPAEpiC	pulmonary alveolar:	n/a
24	chr3:51705063-51705113	AoSMC	blood vessel:	n/a
25	chr3:51705085-51705135	SKMC	muscle:	n/a
26	chr3:51705063-51705113	HCF	heart:	n/a
27	chr3:51705063-51705113	CMK	blood:	n/a
28	chr3:51705085-51705135	HCPEpiC	choroid plexus:	n/a
29	chr3:51705063-51705113	HCPEpiC	choroid plexus:	n/a
30	chr3:51705063-51705113	HRE	kidney:	n/a
31	chr3:51705063-51705113	SK-N-SH	brain:	n/a
32	chr3:51705063-51705113	K562	blood:	n/a
33	chr3:51705063-51705113	HL-60	blood:	n/a
34	chr3:51705045-51705095	NB4	blood:	n/a
35	chr3:51705045-51705095	HL-60	blood:	n/a
36	chr3:51705063-51705113	SK-N-MC	brain:	n/a
37	chr3:51705045-51705095	HMEC	breast:	n/a
38	chr3:51705063-51705113	NT2-D1	testis:	n/a
39	chr3:51705063-51705113	HEK293	kidney:	embryo
40	chr3:51705045-51705095	BJ	skin:	n/a
41	chr3:51705085-51705135	BE2_C	brain:	n/a
42	chr3:51705045-51705095	AG09319	gingival:	n/a
43	chr3:51705045-51705095	ovcar-3	ovarian:	n/a
44	chr3:51705085-51705135	AG10803	skin:	n/a
45	chr3:51705063-51705113	MCF-7	breast:	n/a
46	chr3:51705063-51705113	H1-hESC	embryonic stem cell:	embryo
47	chr3:51705085-51705135	ProgFib	skin:	n/a
48	chr3:51705063-51705113	NH-A	brain:	n/a
49	chr3:51705085-51705135	AoSMC	blood vessel:	n/a
50	chr3:51705045-51705095	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:51532457..51535099-chr3:51703667..51706623,4	MCF-7	breast:
2	chr3:51532560..51534895-chr3:51704003..51706915,3	K562	blood:
3	chr3:51703488..51706346-chr3:51714334..51716919,2	MCF-7	breast:
4	chr3:51533144..51535964-chr3:51704671..51707377,2	MCF-7	breast:
5	chr3:51704425..51707228-chr3:51714036..51717789,3	MCF-7	breast:
6	chr3:51704201..51711015-chr3:51712254..51717093,7	K562	blood:
7	chr3:51532096..51536424-chr3:51702408..51707498,7	K562	blood:
8	chr3:51702918..51706936-chr3:51707889..51711767,6	MCF-7	breast:

Variant related genes	Relation type
TEX264	TF binding region
TEX264	CpG island
ENSG00000145041	Chromatin interaction
ENSG00000164081	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv965167	chr3:51702892-51707059	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr3:51703000-51707800	Enhancers	Fetal Heart	heart
2	chr3:51703600-51705200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr3:51704000-51705200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:51704000-51705600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:51704200-51705200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr3:51704400-51705200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr3:51704400-51705200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:51704400-51705200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr3:51704400-51705200	Flanking Active TSS	Dnd41	blood
10	chr3:51704400-51705200	Flanking Active TSS	NHEK	skin
11	chr3:51704400-51706400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr3:51704400-51706800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:51704400-51706800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:51704400-51706800	Flanking Active TSS	HMEC	breast
15	chr3:51704600-51705200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:51704600-51705200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr3:51704600-51705200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr3:51704600-51705200	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr3:51704600-51705200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr3:51704600-51705200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:51704600-51705200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:51704600-51705200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr3:51704600-51705200	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr3:51704600-51705200	Flanking Active TSS	Fetal Thymus	thymus
25	chr3:51704600-51706000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:51704600-51706000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:51704600-51706000	Active TSS	NH-A	brain
28	chr3:51704600-51706200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:51704600-51706200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:51704600-51706400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr3:51704600-51706600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr3:51704800-51705200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:51704800-51705200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:51704800-51705200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:51704800-51705200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:51704800-51705200	Active TSS	Brain Germinal Matrix	brain
37	chr3:51704800-51705200	Flanking Active TSS	Placenta	Placenta
38	chr3:51704800-51705200	Flanking Active TSS	Spleen	Spleen
39	chr3:51704800-51706000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:51704800-51706000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr3:51704800-51706000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr3:51704800-51706200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:51704800-51706200	Active TSS	Aorta	Aorta
44	chr3:51704800-51706200	Active TSS	Lung	lung
45	chr3:51704800-51706400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:51704800-51706400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr3:51704800-51706400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:51704800-51706400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:51704800-51706400	Active TSS	Ovary	ovary
50	chr3:51704800-51706400	Active TSS	NHDF-Ad	bronchial

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