Variant report

Variant	rs143685847
Chromosome Location	chr3:52568534-52568535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr3:52568439-52568654	HepG2	liver:	n/a	n/a
2	YY1	chr3:52567786-52568597	HepG2	liver:	n/a	chr3:52567878-52567892 chr3:52567972-52567983
3	MAX	chr3:52567337-52569379	HepG2	liver:	n/a	n/a
4	MXI1	chr3:52566450-52569219	IMR90	lung:	n/a	n/a
5	MAZ	chr3:52568473-52568619	HepG2	liver:	n/a	n/a
6	MBD4	chr3:52568419-52569250	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:52568528-52568543	MCF-7	breast:	n/a	n/a
8	CCNT2	chr3:52566580-52568816	K562	blood:	n/a	chr3:52566977-52566986 chr3:52567974-52567983 chr3:52567185-52567194 chr3:52567981-52567990
9	POLR2A	chr3:52568451-52569278	HepG2	liver:	n/a	n/a
10	MYC	chr3:52568494-52569205	K562	blood:	n/a	n/a
11	HMGN3	chr3:52566706-52568905	K562	blood:	n/a	n/a
12	POLR2A	chr3:52568364-52568566	HUVEC	blood vessel:	n/a	n/a
13	E2F6	chr3:52567290-52569157	K562	blood:	n/a	n/a
14	POLR2A	chr3:52566714-52569188	MCF-7	breast:	n/a	n/a
15	MAX	chr3:52567313-52569354	HepG2	liver:	n/a	n/a
16	MAX	chr3:52567187-52568696	A549	lung:	n/a	n/a
17	MAX	chr3:52567951-52569156	HepG2	liver:	n/a	n/a
18	ELF1	chr3:52568364-52568589	K562	blood:	n/a	n/a
19	MYBL2	chr3:52568371-52568722	HepG2	liver:	n/a	n/a
20	RCOR1	chr3:52568487-52568611	K562	blood:	n/a	n/a
21	E2F6	chr3:52567731-52568630	H1-hESC	embryonic stem cell:	n/a	n/a
22	UBTF	chr3:52567888-52569324	K562	blood:	n/a	n/a
23	TBP	chr3:52568214-52568594	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr3:52567703-52568724	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZBTB7A	chr3:52568311-52568805	K562	blood:	n/a	n/a
26	MAZ	chr3:52567714-52568569	K562	blood:	n/a	n/a
27	SIN3A	chr3:52567951-52568804	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr3:52567274-52568650	HepG2	liver:	n/a	n/a
29	POLR2A	chr3:52560598-52572342	HepG2	liver:	n/a	n/a
30	CTCF	chr3:52568440-52568590	SK-N-SH_RA	brain:	n/a	n/a
31	MAX	chr3:52567374-52568755	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr3:52568266-52569203	K562	blood:	n/a	n/a
33	CREB1	chr3:52567301-52569320	HepG2	liver:	n/a	n/a
34	POLR2A	chr3:52564832-52568664	K562	blood:	n/a	n/a
35	E2F6	chr3:52568318-52568573	K562	blood:	n/a	n/a
36	MXI1	chr3:52566005-52569515	SK-N-SH	brain:	n/a	chr3:52566058-52566067
37	MXI1	chr3:52567414-52569221	HepG2	liver:	n/a	n/a
38	POLR2A	chr3:52568384-52568562	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAZ	chr3:52565612-52569076	IMR90	lung:	n/a	chr3:52566595-52566603
40	POLR2A	chr3:52564773-52569282	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52568115..52572187-chr3:52717267..52721555,8	K562	blood:
2	chr3:52567779..52572340-chr3:52718708..52722750,6	K562	blood:
3	chr3:52527250..52529955-chr3:52567199..52569414,2	MCF-7	breast:
4	chr3:52554843..52559532-chr3:52566910..52570402,7	MCF-7	breast:
5	chr3:52567315..52569798-chr3:52739141..52741499,3	MCF-7	breast:
6	chr3:52551484..52554158-chr3:52567066..52569157,2	MCF-7	breast:
7	chr3:52503525..52506168-chr3:52566167..52568849,2	MCF-7	breast:
8	chr3:52567553..52570571-chr3:52718365..52721514,3	MCF-7	breast:
9	chr3:52567128..52569011-chr3:52738941..52741649,3	K562	blood:
10	chr3:52567106..52571736-chr3:52712759..52716604,4	K562	blood:
11	chr3:52566406..52569677-chr3:52718507..52721358,5	MCF-7	breast:
12	chr3:52311763..52314254-chr3:52566006..52568592,3	K562	blood:

No data

Variant related genes	Relation type
SMIM4	TF binding region
NT5DC2	TF binding region
ENSG00000016864	Chromatin interaction
ENSG00000010322	Chromatin interaction
ENSG00000010327	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000114902	Chromatin interaction
ENSG00000168268	Chromatin interaction
ENSG00000163939	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv590305	chr3:52535586-52569480	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv590307	chr3:52540773-52572056	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv876795	chr3:52544470-52572056	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv876796	chr3:52549676-52572056	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv3389739	chr3:52566962-52569135	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52566200-52569000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr3:52566200-52571600	Active TSS	Fetal Kidney	kidney
3	chr3:52566400-52568600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:52566400-52568600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:52566400-52569000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr3:52566600-52568600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:52566600-52568600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr3:52566600-52568600	Active TSS	A549	lung
9	chr3:52566600-52568800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr3:52566800-52568600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr3:52566800-52568600	Active TSS	HSMMtube	muscle
12	chr3:52566800-52568800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr3:52566800-52568800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr3:52566800-52568800	Active TSS	Rectal Smooth Muscle	rectum
15	chr3:52566800-52569000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:52566800-52569200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:52566800-52569200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:52566800-52569400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr3:52567000-52568600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:52567000-52568600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:52567000-52568600	Active TSS	Brain Hippocampus Middle	brain
22	chr3:52567000-52568600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:52567000-52568600	Active TSS	Brain Substantia Nigra	brain
24	chr3:52567000-52568600	Active TSS	Fetal Brain Female	brain
25	chr3:52567000-52568600	Active TSS	Ovary	ovary
26	chr3:52567000-52568600	Active TSS	NHDF-Ad	bronchial
27	chr3:52567000-52568800	Active TSS	Fetal Lung	lung
28	chr3:52567000-52568800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr3:52567000-52568800	Active TSS	Right Atrium	heart
30	chr3:52567000-52569000	Active TSS	Colon Smooth Muscle	Colon
31	chr3:52567000-52569200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr3:52567200-52568600	Active TSS	Aorta	Aorta
33	chr3:52567200-52568600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:52567200-52568600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:52567200-52568800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:52567200-52569000	Active TSS	HSMM	muscle
37	chr3:52567200-52569800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:52567400-52568600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr3:52567400-52569000	Active TSS	Gastric	stomach
40	chr3:52567600-52570000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:52568000-52568600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:52568000-52568600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr3:52568000-52568600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:52568000-52568600	Flanking Active TSS	Psoas Muscle	Psoas
45	chr3:52568000-52568600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr3:52568000-52568800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:52568000-52569400	Enhancers	Fetal Brain Male	brain
48	chr3:52568000-52569400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr3:52568200-52568600	Enhancers	Primary T cells from cord blood	blood
50	chr3:52568200-52568600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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