Variant report

Variant	rs9332248
Chromosome Location	chr13:48806773-48806774
allele	C/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	HEY1	chr13:48806660-48806908	HepG2	liver:	n/a	n/a
2	TAF1	chr13:48806769-48808127	ECC-1	luminal epithelium:	n/a	n/a
3	MXI1	chr13:48806484-48808649	SK-N-SH	brain:	n/a	n/a
4	REST	chr13:48806764-48807510	HepG2	liver:	n/a	chr13:48807168-48807181 chr13:48807200-48807213 chr13:48807308-48807318
5	MXI1	chr13:48806509-48808033	HepG2	liver:	n/a	n/a
6	MAX	chr13:48806515-48808286	NB4	blood:	n/a	n/a
7	POLR2A	chr13:48806291-48808234	HepG2	liver:	n/a	n/a
8	MAZ	chr13:48806614-48807974	K562	blood:	n/a	n/a
9	TEAD4	chr13:48806679-48807128	HepG2	liver:	n/a	n/a
10	NFIC	chr13:48806669-48807250	HepG2	liver:	n/a	n/a
11	TBP	chr13:48806769-48808304	H1-hESC	embryonic stem cell:	n/a	n/a
12	RCOR1	chr13:48806486-48807904	HepG2	liver:	n/a	n/a
13	MBD4	chr13:48806581-48807220	HepG2	liver:	n/a	n/a
14	POLR2A	chr13:48806684-48806860	HepG2	liver:	n/a	n/a
15	ZMIZ1	chr13:48806763-48806775	K562	blood:	n/a	n/a
16	RCOR1	chr13:48806644-48807005	K562	blood:	n/a	n/a
17	HA-E2F1	chr13:48806662-48808053	MCF-7	breast:	n/a	chr13:48807460-48807470 chr13:48807852-48807861 chr13:48807701-48807710 chr13:48807459-48807468
18	HEY1	chr13:48806258-48808020	HepG2	liver:	n/a	chr13:48807707-48807722 chr13:48807698-48807713
19	MYBL2	chr13:48806634-48807204	HepG2	liver:	n/a	n/a
20	POLR2A	chr13:48806735-48808356	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr13:48806737-48807903	HepG2	liver:	n/a	n/a
22	BHLHE40	chr13:48806652-48807096	K562	blood:	n/a	chr13:48807008-48807024
23	POLR2A	chr13:48806599-48808489	PBDE	blood:	n/a	n/a
24	POLR2A	chr13:48806720-48807233	HepG2	liver:	n/a	n/a
25	POLR2A	chr13:48806658-48806975	HepG2	liver:	n/a	n/a
26	MYC	chr13:48806725-48808134	NB4	blood:	n/a	n/a
27	TBL1XR1	chr13:48806770-48806907	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:48806118..48810225-chr13:48876144..48879386,12	MCF-7	breast:
2	chr13:48806307..48808548-chr13:49152200..49154470,2	MCF-7	breast:
3	chr13:48612019..48613651-chr13:48806032..48808331,2	MCF-7	breast:
4	chr13:48806544..48809798-chr13:48876519..48878974,4	K562	blood:
5	chr13:48805537..48807049-chr13:48830310..48832562,2	K562	blood:
6	chr13:48806625..48809806-chr13:48877426..48879405,3	K562	blood:
7	chr13:48667865..48670263-chr13:48806295..48809101,2	MCF-7	breast:
8	chr13:48668651..48670754-chr13:48805441..48808765,3	MCF-7	breast:

Variant related genes	Relation type
ITM2B	TF binding region
ENSG00000231473	Chromatin interaction
ENSG00000139687	Chromatin interaction
ENSG00000233610	Chromatin interaction
ENSG00000136146	Chromatin interaction
ENSG00000136143	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11840676	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171989	0.92[EUR][1000 genomes]
rs185587	0.84[EUR][1000 genomes]
rs198559	0.92[EUR][1000 genomes]
rs198565	0.92[EUR][1000 genomes]
rs198566	0.92[EUR][1000 genomes]
rs198567	0.92[EUR][1000 genomes]
rs198572	0.92[EUR][1000 genomes]
rs198573	0.92[EUR][1000 genomes]
rs198600	0.92[EUR][1000 genomes]
rs198601	0.92[EUR][1000 genomes]
rs198613	0.92[EUR][1000 genomes]
rs198616	0.92[EUR][1000 genomes]
rs198617	0.92[EUR][1000 genomes]
rs198618	0.92[EUR][1000 genomes]
rs198628	0.92[EUR][1000 genomes]
rs198632	0.92[EUR][1000 genomes]
rs198636	0.92[EUR][1000 genomes]
rs2245534	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2265777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406932	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515668	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804082	0.92[EUR][1000 genomes]
rs2804084	0.92[EUR][1000 genomes]
rs2804085	0.92[EUR][1000 genomes]
rs2804086	0.92[EUR][1000 genomes]
rs2804087	0.92[EUR][1000 genomes]
rs2804088	0.92[EUR][1000 genomes]
rs2804089	0.92[EUR][1000 genomes]
rs2804091	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2804092	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854352	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854356	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2854363	0.92[EUR][1000 genomes]
rs2854364	0.92[EUR][1000 genomes]
rs2854365	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs411661	0.84[EUR][1000 genomes]
rs411862	0.92[EUR][1000 genomes]
rs416156	0.92[EUR][1000 genomes]
rs428431	0.92[EUR][1000 genomes]
rs4625624	1.00[EUR][1000 genomes]
rs547747	0.92[EUR][1000 genomes]
rs61507973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318012	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990103	0.92[EUR][1000 genomes]
rs8001351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9285166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332281	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9562817	0.92[EUR][1000 genomes]
rs9591153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591154	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591155	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591163	0.92[EUR][1000 genomes]
rs9595872	0.83[EUR][1000 genomes]
rs9595894	0.92[EUR][1000 genomes]
rs9595909	0.92[EUR][1000 genomes]
rs9595910	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48796000-48806800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:48804600-48806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:48804800-48806800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:48805000-48806800	Flanking Active TSS	HepG2	liver
5	chr13:48805400-48806800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:48805800-48806800	Weak transcription	Hela-S3	cervix
7	chr13:48806000-48806800	Enhancers	Placenta	Placenta
8	chr13:48806000-48806800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr13:48806000-48807000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr13:48806000-48808200	Active TSS	Primary hematopoietic stem cells	blood
11	chr13:48806200-48806800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:48806200-48806800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr13:48806200-48806800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:48806200-48806800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr13:48806200-48806800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:48806200-48806800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:48806200-48806800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr13:48806200-48806800	Enhancers	Gastric	stomach
19	chr13:48806200-48806800	Enhancers	Lung	lung
20	chr13:48806200-48806800	Enhancers	Pancreas	Pancrea
21	chr13:48806200-48807000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:48806200-48807000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:48806200-48807000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr13:48806200-48807000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr13:48806200-48807000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr13:48806200-48807000	Flanking Active TSS	Fetal Kidney	kidney
27	chr13:48806200-48807000	Enhancers	Spleen	Spleen
28	chr13:48806200-48809800	Active TSS	Brain Angular Gyrus	brain
29	chr13:48806400-48806800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:48806400-48806800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr13:48806400-48806800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:48806400-48806800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:48806400-48806800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr13:48806400-48806800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr13:48806400-48806800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr13:48806400-48806800	Enhancers	Fetal Heart	heart
37	chr13:48806400-48806800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr13:48806400-48806800	Flanking Active TSS	Stomach Mucosa	stomach
39	chr13:48806400-48807000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:48806400-48807000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:48806400-48807000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr13:48806400-48807000	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr13:48806400-48807000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr13:48806400-48807000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:48806400-48807000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:48806400-48807000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:48806400-48807000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr13:48806400-48807000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr13:48806400-48807000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr13:48806400-48807000	Flanking Active TSS	A549	lung

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