Variant report

Variant	rs146216931
Chromosome Location	chr3:51704946-51704947
allele	A/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	EP300	chr3:51704694-51705112	T-47D	breast:	n/a	n/a
2	CEBPB	chr3:51704876-51705218	IMR90	lung:	n/a	n/a
3	MYC	chr3:51704835-51705276	MCF10A-Er-Src	breast:	n/a	chr3:51705119-51705128 chr3:51705123-51705132
4	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
5	POLR2A	chr3:51704829-51706272	MCF-7	breast:	n/a	n/a
6	POLR2A	chr3:51704884-51706176	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr3:51704870-51706245	HCT-116	colon:	n/a	n/a
8	MAX	chr3:51704848-51706190	MCF-7	breast:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
9	TCF12	chr3:51704787-51706171	ECC-1	luminal epithelium:	n/a	chr3:51705450-51705457
10	POLR2A	chr3:51704824-51706185	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:51704738-51706189	HL-60	blood:	n/a	n/a
12	HDAC2	chr3:51704902-51705573	K562	blood:	n/a	chr3:51705166-51705175
13	CEBPB	chr3:51704919-51705121	MCF-7	breast:	n/a	n/a
14	RCOR1	chr3:51704839-51706186	Hela-S3	cervix:	n/a	n/a
15	FOSL2	chr3:51704907-51705476	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:51704856-51706329	GM18526	blood:	n/a	n/a
17	MAX	chr3:51704855-51706080	K562	blood:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
18	RUNX3	chr3:51704784-51705717	GM12878	blood:	n/a	n/a
19	HA-E2F1	chr3:51704817-51706155	Hela-S3	cervix:	n/a	chr3:51705167-51705176 chr3:51705058-51705070
20	SIN3A	chr3:51704910-51706277	GM12878	blood:	n/a	chr3:51705991-51706004 chr3:51705457-51705470 chr3:51705847-51705858
21	POLR2A	chr3:51704684-51706405	GM18505	blood:	n/a	n/a
22	CEBPB	chr3:51704818-51705139	A549	lung:	n/a	n/a
23	CHD2	chr3:51704860-51706118	Hela-S3	cervix:	n/a	n/a
24	ELF1	chr3:51704931-51706067	K562	blood:	n/a	chr3:51705524-51705536 chr3:51705147-51705159 chr3:51705853-51705862
25	YY1	chr3:51704893-51706147	HepG2	liver:	n/a	chr3:51705762-51705771 chr3:51705410-51705419 chr3:51705145-51705159 chr3:51705850-51705861 chr3:51705853-51705862 chr3:51705841-51705855 chr3:51705956-51705967
26	POLR2A	chr3:51704810-51706190	GM12878	blood:	n/a	n/a
27	CEBPB	chr3:51704927-51705146	H1-hESC	embryonic stem cell:	n/a	n/a
28	GTF2F1	chr3:51704901-51705415	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr3:51704671-51706350	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr3:51704918-51705606	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr3:51704628-51706205	GM12892	blood:	n/a	n/a
32	POLR2A	chr3:51704925-51706227	GM12892	blood:	n/a	n/a
33	CTCF	chr3:51704880-51705030	GM06990	blood:	n/a	n/a
34	POLR2A	chr3:51704864-51706236	MCF-7	breast:	n/a	n/a
35	POLR2A	chr3:51704785-51706307	PFSK-1	brain:	n/a	n/a
36	RELA	chr3:51704945-51706295	GM19099	blood:	n/a	n/a
37	POLR2A	chr3:51704795-51706890	GM12878	blood:	n/a	n/a
38	POLR2A	chr3:51704942-51706147	HEK293	kidney:	n/a	n/a
39	MXI1	chr3:51704446-51706405	SK-N-SH	brain:	n/a	chr3:51705117-51705132 chr3:51705119-51705134
40	POLR2A	chr3:51704936-51705552	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr3:51704746-51706326	K562	blood:	n/a	n/a
42	POLR2A	chr3:51704931-51705638	GM12891	blood:	n/a	n/a
43	MAX	chr3:51704838-51706312	HepG2	liver:	n/a	chr3:51705863-51705879 chr3:51705771-51705781 chr3:51705119-51705128 chr3:51705123-51705132
44	IRF1	chr3:51704815-51705491	K562	blood:	n/a	chr3:51705131-51705145
45	FOXA1	chr3:51704862-51705146	T-47D	breast:	n/a	n/a
46	NFATC1	chr3:51704608-51705417	GM12878	blood:	n/a	n/a
47	HA-E2F1	chr3:51704743-51706362	MCF-7	breast:	n/a	chr3:51705167-51705176 chr3:51705058-51705070
48	POLR2A	chr3:51704831-51705574	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr3:51704095-51706320	Hela-S3	cervix:	n/a	n/a
50	MAFK	chr3:51704911-51705995	Hela-S3	cervix:	n/a	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
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	chr3:51704000-51705000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:51704000-51705000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr3:51704000-51705000	Flanking Active TSS	Hela-S3	cervix
6	chr3:51704000-51705200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr3:51704000-51705600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:51704200-51705000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:51704200-51705000	Enhancers	Small Intestine	intestine
10	chr3:51704200-51705000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr3:51704200-51705000	Flanking Active TSS	HepG2	liver
12	chr3:51704200-51705200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr3:51704400-51705000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr3:51704400-51705000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr3:51704400-51705000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr3:51704400-51705000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr3:51704400-51705000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr3:51704400-51705000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr3:51704400-51705000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:51704400-51705000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr3:51704400-51705000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:51704400-51705000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr3:51704400-51705000	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr3:51704400-51705000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:51704400-51705000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr3:51704400-51705000	Flanking Active TSS	Fetal Brain Male	brain
27	chr3:51704400-51705000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr3:51704400-51705000	Flanking Active TSS	Thymus	Thymus
29	chr3:51704400-51705000	Flanking Active TSS	GM12878-XiMat	blood
30	chr3:51704400-51705200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr3:51704400-51705200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:51704400-51705200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr3:51704400-51705200	Flanking Active TSS	Dnd41	blood
34	chr3:51704400-51705200	Flanking Active TSS	NHEK	skin
35	chr3:51704400-51706400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr3:51704400-51706800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:51704400-51706800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:51704400-51706800	Flanking Active TSS	HMEC	breast
39	chr3:51704600-51705000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr3:51704600-51705000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr3:51704600-51705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:51704600-51705000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:51704600-51705000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:51704600-51705000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr3:51704600-51705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:51704600-51705000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr3:51704600-51705000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr3:51704600-51705000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:51704600-51705000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:51704600-51705000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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