Variant report

Variant	rs73339281
Chromosome Location	chr5:126408619-126408620
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	POLR2A	chr5:126408543-126409480	GM18505	blood:	n/a	n/a
2	ARID3A	chr5:126408562-126409327	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:126408567-126409839	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:126408610-126408620	K562	blood:	n/a	n/a
5	POLR2A	chr5:126408537-126409506	HepG2	liver:	n/a	n/a
6	YY1	chr5:126408545-126408869	GM12878	blood:	n/a	chr5:126408709-126408717
7	YY1	chr5:126408553-126408888	ECC-1	luminal epithelium:	n/a	chr5:126408709-126408717
8	SIN3AK20	chr5:126408606-126409344	SK-N-SH	brain:	n/a	n/a
9	YY1	chr5:126408592-126408792	HCT-116	colon:	n/a	chr5:126408709-126408717
10	POLR2A	chr5:126408505-126409468	GM12878	blood:	n/a	n/a
11	MXI1	chr5:126408316-126409622	SK-N-SH	brain:	n/a	n/a
12	STAT3	chr5:126408583-126408694	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr5:126408556-126409403	GM12878	blood:	n/a	n/a
14	YY1	chr5:126408522-126409313	GM12892	blood:	n/a	chr5:126408709-126408717
15	STAT3	chr5:126408526-126408958	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:126408491-126409469	GM19099	blood:	n/a	n/a
17	YY1	chr5:126408565-126408855	GM12891	blood:	n/a	chr5:126408709-126408717
18	POLR2A	chr5:126408567-126409482	GM18526	blood:	n/a	n/a
19	STAT5A	chr5:126408587-126409287	GM12878	blood:	n/a	n/a
20	YY1	chr5:126408532-126408784	K562	blood:	n/a	chr5:126408709-126408717
21	FOXA1	chr5:126408474-126409003	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:126408549-126409497	GM15510	blood:	n/a	n/a
23	HA-E2F1	chr5:126408611-126409579	MCF-7	breast:	n/a	chr5:126409206-126409216 chr5:126409219-126409229
24	FOXA1	chr5:126408558-126409411	HepG2	liver:	n/a	n/a
25	E2F4	chr5:126408444-126409260	MCF10A-Er-Src	breast:	n/a	chr5:126409206-126409216 chr5:126409219-126409229
26	GABPA	chr5:126408606-126409593	A549	lung:	n/a	n/a
27	POLR2A	chr5:126408560-126409497	MCF10A-Er-Src	breast:	n/a	n/a
28	GABPA	chr5:126408557-126409532	SK-N-SH	brain:	n/a	n/a
29	SIN3AK20	chr5:126408500-126409627	MCF-7	breast:	n/a	n/a
30	YY1	chr5:126408519-126409329	SK-N-SH_RA	brain:	n/a	chr5:126408709-126408717
31	MAX	chr5:126408571-126409488	MCF-7	breast:	n/a	chr5:126409236-126409245
32	NR2F2	chr5:126408365-126409358	MCF-7	breast:	n/a	chr5:126408699-126408714
33	FOXA1	chr5:126408506-126408855	HepG2	liver:	n/a	n/a
34	GABPA	chr5:126408399-126409755	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:126408509-126409473	GM18951	blood:	n/a	n/a
36	MAX	chr5:126408570-126409645	HepG2	liver:	n/a	chr5:126409236-126409245
37	POLR2A	chr5:126408581-126409448	GM19193	blood:	n/a	n/a
38	POLR2A	chr5:126408471-126409489	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr5:126408160-126409912	GM12891	blood:	n/a	n/a
40	NR2F2	chr5:126408588-126409135	K562	blood:	n/a	chr5:126408699-126408714
41	YY1	chr5:126408542-126409368	GM12878	blood:	n/a	chr5:126408709-126408717
42	KAP1	chr5:126408538-126409648	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126364877..126368459-chr5:126407436..126411131,4	MCF-7	breast:
2	chr5:126364290..126367111-chr5:126408529..126412360,4	MCF-7	breast:
3	chr5:126364050..126367985-chr5:126407589..126410597,4	K562	blood:
4	chr5:126365773..126367830-chr5:126407441..126409970,2	K562	blood:

Variant related genes	Relation type
C5orf63	TF binding region
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11949784	0.94[EUR][1000 genomes]
rs11950032	0.83[EUR][1000 genomes]
rs11952890	0.94[EUR][1000 genomes]
rs11959383	0.94[EUR][1000 genomes]
rs12109713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58134448	0.89[EUR][1000 genomes]
rs58159475	0.95[EUR][1000 genomes]
rs61146816	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6860157	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339263	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339286	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73783512	1.00[EUR][1000 genomes]
rs73783538	0.94[EUR][1000 genomes]
rs73783539	0.94[EUR][1000 genomes]
rs73783540	0.94[EUR][1000 genomes]
rs73783541	0.94[EUR][1000 genomes]
rs73783556	0.94[EUR][1000 genomes]
rs73783557	0.94[EUR][1000 genomes]
rs73783560	0.94[EUR][1000 genomes]
rs73783575	0.94[EUR][1000 genomes]
rs73783579	0.94[EUR][1000 genomes]
rs73783580	0.94[EUR][1000 genomes]
rs73786204	0.83[EUR][1000 genomes]
rs73787407	0.94[EUR][1000 genomes]
rs73787408	0.94[EUR][1000 genomes]
rs9918170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126377200-126409000	Weak transcription	Spleen	Spleen
2	chr5:126393600-126412000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126406400-126408800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:126406600-126409000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:126406600-126409400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:126406600-126409400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:126406600-126411800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:126406600-126412000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:126406600-126412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:126406800-126411800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:126408000-126409400	Active TSS	GM12878-XiMat	blood
12	chr5:126408200-126408800	Flanking Active TSS	NHEK	skin
13	chr5:126408200-126409000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:126408200-126409000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:126408200-126409400	Active TSS	Duodenum Mucosa	Duodenum
16	chr5:126408200-126409400	Active TSS	Fetal Kidney	kidney
17	chr5:126408200-126409400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr5:126408200-126409400	Active TSS	A549	lung
19	chr5:126408200-126409400	Active TSS	K562	blood
20	chr5:126408200-126409600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:126408200-126409600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:126408200-126410000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:126408400-126408800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:126408400-126408800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:126408400-126408800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:126408400-126408800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr5:126408400-126408800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr5:126408400-126408800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr5:126408400-126408800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:126408400-126408800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:126408400-126408800	Flanking Active TSS	Liver	Liver
32	chr5:126408400-126408800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr5:126408400-126408800	Flanking Active TSS	Fetal Thymus	thymus
34	chr5:126408400-126409000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr5:126408400-126409000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr5:126408400-126409200	Active TSS	Right Atrium	heart
37	chr5:126408400-126409200	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr5:126408400-126409400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:126408400-126409400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:126408400-126409400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:126408400-126409400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:126408400-126409400	Active TSS	Brain Anterior Caudate	brain
43	chr5:126408400-126409400	Active TSS	Fetal Brain Female	brain
44	chr5:126408400-126409400	Active TSS	Fetal Stomach	stomach
45	chr5:126408400-126409400	Active TSS	Left Ventricle	heart
46	chr5:126408400-126409400	Active TSS	Pancreas	Pancrea
47	chr5:126408400-126409400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:126408400-126409400	Active TSS	NH-A	brain
49	chr5:126408400-126409600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:126408400-126409600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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