Variant report

Variant	rs372186136
Chromosome Location	chr3:48470055-48470056
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	SP1	chr3:48469885-48470538	HepG2	liver:	n/a	chr3:48469926-48469933 chr3:48470395-48470404 chr3:48470391-48470405
2	HNF4A	chr3:48469923-48470471	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:48469776-48471162	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:48469940-48470100	MCF-7	breast:	n/a	n/a
5	POLR2A	chr3:48468563-48472948	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr3:48470018-48470129	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr3:48469998-48470537	HepG2	liver:	n/a	chr3:48470440-48470449
8	POLR2A	chr3:48468603-48471989	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYBL2	chr3:48469649-48470371	HepG2	liver:	n/a	n/a
10	SMC3	chr3:48469968-48470074	HepG2	liver:	n/a	n/a
11	JUND	chr3:48469964-48470157	HepG2	liver:	n/a	n/a
12	CREB1	chr3:48469743-48473462	HepG2	liver:	n/a	n/a
13	MXI1	chr3:48469835-48470250	HepG2	liver:	n/a	n/a
14	TAF1	chr3:48469762-48471869	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr3:48469805-48470566	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:48466790-48473062	HepG2	liver:	n/a	n/a
17	ARID3A	chr3:48470029-48470305	HepG2	liver:	n/a	n/a
18	HEY1	chr3:48469646-48472042	HepG2	liver:	n/a	chr3:48471229-48471244 chr3:48470221-48470236 chr3:48470955-48470970 chr3:48470572-48470587 chr3:48471347-48471362 chr3:48470953-48470968
19	POLR2A	chr3:48466636-48473218	HepG2	liver:	n/a	n/a
20	POLR2A	chr3:48461949-48470573	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr3:48469906-48470151	HepG2	liver:	n/a	n/a
22	ELF1	chr3:48469874-48470193	HepG2	liver:	n/a	n/a
23	POLR2A	chr3:48469739-48471688	H1-neurons	neurons:	n/a	n/a
24	HEY1	chr3:48469356-48473141	HepG2	liver:	n/a	chr3:48471229-48471244 chr3:48470221-48470236 chr3:48470955-48470970 chr3:48470572-48470587 chr3:48471347-48471362 chr3:48470953-48470968
25	HNF4A	chr3:48469866-48470567	HepG2	liver:	n/a	n/a
26	MAZ	chr3:48469896-48472124	HepG2	liver:	n/a	chr3:48471053-48471063 chr3:48471085-48471094 chr3:48471081-48471090 chr3:48470436-48470446 chr3:48471214-48471224
27	POLR2A	chr3:48469811-48471766	H1-neurons	neurons:	n/a	n/a
28	REST	chr3:48469833-48470233	HepG2	liver:	n/a	chr3:48469903-48469913 chr3:48469907-48469916
29	TAF1	chr3:48469764-48470158	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr3:48469582-48472048	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZBTB7A	chr3:48469893-48470665	HepG2	liver:	n/a	chr3:48470440-48470449
32	CEBPD	chr3:48469856-48470725	HepG2	liver:	n/a	n/a
33	RXRA	chr3:48469892-48470491	HepG2	liver:	n/a	chr3:48470432-48470452
34	TBP	chr3:48469856-48470965	HepG2	liver:	n/a	n/a
35	YY1	chr3:48469799-48470156	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr3:48469866-48470249	HepG2	liver:	n/a	n/a
37	MAX	chr3:48469938-48470201	HepG2	liver:	n/a	n/a
38	ZEB1	chr3:48469774-48473492	HepG2	liver:	n/a	chr3:48471157-48471164 chr3:48471410-48471422
39	FOXA2	chr3:48469914-48470315	HepG2	liver:	n/a	n/a
40	POLR2A	chr3:48469652-48471931	HepG2	liver:	n/a	n/a
41	TAF1	chr3:48469834-48470236	HepG2	liver:	n/a	n/a
42	YY1	chr3:48469727-48471920	HepG2	liver:	n/a	chr3:48471050-48471064 chr3:48471056-48471065 chr3:48470955-48470969 chr3:48471230-48471241
43	CEBPB	chr3:48470003-48470200	HepG2	liver:	n/a	n/a
44	SIN3A	chr3:48469738-48472007	H1-hESC	embryonic stem cell:	n/a	chr3:48471240-48471249 chr3:48471333-48471342
45	FOXA1	chr3:48469835-48470330	HepG2	liver:	n/a	n/a
46	POLR2A	chr3:48469958-48470142	MCF-7	breast:	n/a	n/a
47	REST	chr3:48469446-48471910	H1-neurons	neurons:	n/a	chr3:48471333-48471343 chr3:48471343-48471356 chr3:48469903-48469913 chr3:48470943-48470956 chr3:48469907-48469916 chr3:48471255-48471262 chr3:48470994-48471012
48	POLR2A	chr3:48469835-48470211	HepG2	liver:	n/a	n/a
49	TAF1	chr3:48469779-48471852	HepG2	liver:	n/a	n/a
50	TBP	chr3:48469800-48471835	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48468692..48470258-chr3:48540999..48543179,2	K562	blood:
2	chr3:48447403..48451386-chr3:48469064..48473166,5	MCF-7	breast:
3	chr3:48468569..48471339-chr3:48481498..48483135,2	MCF-7	breast:
4	chr2:241503199..241505771-chr3:48469733..48471743,2	MCF-7	breast:
5	chr3:48469539..48472280-chr3:48487900..48489460,2	MCF-7	breast:
6	chr3:48468825..48473989-chr3:48477233..48479904,8	MCF-7	breast:
7	chr3:48454313..48457718-chr3:48468090..48471775,3	MCF-7	breast:
8	chr3:48449321..48451479-chr3:48469134..48470813,2	K562	blood:
9	chr3:48262147..48265261-chr3:48469207..48471708,3	MCF-7	breast:
10	chr3:48469238..48470766-chr3:48475328..48477578,2	K562	blood:
11	chr3:48341872..48344261-chr3:48469680..48472661,4	MCF-7	breast:
12	chr3:48281213..48283691-chr3:48469389..48472428,3	K562	blood:
13	chr3:48468360..48471756-chr3:48485148..48489754,5	K562	blood:
14	chr3:48301212..48303241-chr3:48468487..48470721,2	MCF-7	breast:
15	chr3:48282380..48283987-chr3:48469620..48473031,3	MCF-7	breast:
16	chr3:48469445..48473059-chr3:48486174..48489531,5	MCF-7	breast:

Variant related genes	Relation type
PLXNB1	TF binding region
ENSG00000232112	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000164050	Chromatin interaction
ENSG00000172113	Chromatin interaction
ENSG00000164048	Chromatin interaction
ENSG00000244380	Chromatin interaction
ENSG00000142327	Chromatin interaction
ENSG00000164051	Chromatin interaction
ENSG00000164047	Chromatin interaction
ENSG00000164053	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv876761	chr3:48464968-48496758	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	esv3345173	chr3:48469473-48472321	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48466800-48470200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr3:48467200-48470200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:48467800-48471400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr3:48468000-48470200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:48468000-48471400	Active TSS	Brain Cingulate Gyrus	brain
6	chr3:48468200-48470200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:48468200-48470200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr3:48468400-48470200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr3:48468600-48470200	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr3:48468600-48470200	Flanking Active TSS	HSMM	muscle
11	chr3:48468600-48472000	Active TSS	Fetal Kidney	kidney
12	chr3:48468800-48471800	Active TSS	Aorta	Aorta
13	chr3:48468800-48472000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:48469000-48470200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:48469000-48470200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:48469000-48471600	Active TSS	Brain Angular Gyrus	brain
17	chr3:48469200-48470200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:48469200-48470200	Flanking Active TSS	NH-A	brain
19	chr3:48469400-48470200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:48469400-48471600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:48469600-48470200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:48469600-48470200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:48469600-48470200	Flanking Active TSS	Left Ventricle	heart
24	chr3:48469600-48470200	Flanking Active TSS	HUVEC	blood vessel
25	chr3:48469600-48471400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:48469600-48471800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:48469800-48470200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:48469800-48470200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:48469800-48470200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr3:48469800-48470200	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr3:48469800-48470200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr3:48469800-48470200	Flanking Active TSS	Right Ventricle	heart
33	chr3:48469800-48470200	Flanking Active TSS	NHLF	lung
34	chr3:48469800-48470400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr3:48469800-48470400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr3:48469800-48470400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:48469800-48470400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr3:48469800-48470400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:48469800-48470400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:48469800-48470400	Bivalent Enhancer	Fetal Thymus	thymus
41	chr3:48469800-48470600	Flanking Bivalent TSS/Enh	Dnd41	blood
42	chr3:48469800-48471200	Active TSS	Primary T cells from cord blood	blood
43	chr3:48469800-48471200	Active TSS	Brain Substantia Nigra	brain
44	chr3:48469800-48471200	Active TSS	HMEC	breast
45	chr3:48469800-48471400	Active TSS	Brain Hippocampus Middle	brain
46	chr3:48469800-48471400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr3:48469800-48471600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:48469800-48471600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr3:48469800-48471600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr3:48469800-48471600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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