Variant report

Variant	rs73339278
Chromosome Location	chr5:126408294-126408295
allele	A/T
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	chr5:126408160-126409912	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126364877..126368459-chr5:126407436..126411131,4	MCF-7	breast:
2	chr5:126364050..126367985-chr5:126407589..126410597,4	K562	blood:
3	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]
rs73339281	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126374600-126408400	Weak transcription	Psoas Muscle	Psoas
2	chr5:126377200-126409000	Weak transcription	Spleen	Spleen
3	chr5:126377400-126408400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:126378000-126408400	Weak transcription	Right Ventricle	heart
5	chr5:126381400-126408400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:126382400-126408600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:126388600-126408400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:126389000-126408400	Weak transcription	Thymus	Thymus
9	chr5:126390200-126408400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:126392000-126408400	Weak transcription	Fetal Brain Female	brain
11	chr5:126392000-126408400	Weak transcription	HSMMtube	muscle
12	chr5:126392200-126408400	Weak transcription	Fetal Stomach	stomach
13	chr5:126392200-126408600	Weak transcription	Lung	lung
14	chr5:126392400-126408400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:126392400-126408400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:126392400-126408400	Weak transcription	Pancreas	Pancrea
17	chr5:126392400-126408400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:126392400-126408600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:126392400-126408600	Weak transcription	Ovary	ovary
20	chr5:126392400-126408600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:126392600-126408400	Weak transcription	Fetal Thymus	thymus
22	chr5:126393600-126412000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:126393800-126408400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:126394600-126408400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr5:126399400-126408600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:126400600-126408400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:126401600-126408400	Weak transcription	Fetal Intestine Large	intestine
28	chr5:126404400-126408400	Enhancers	HUVEC	blood vessel
29	chr5:126404800-126408600	Weak transcription	Esophagus	oesophagus
30	chr5:126405000-126408400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:126405000-126408400	Weak transcription	HSMM	muscle
32	chr5:126405000-126408400	Weak transcription	NH-A	brain
33	chr5:126405000-126408400	Weak transcription	Osteobl	bone
34	chr5:126405200-126408400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:126405200-126408400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:126405400-126408400	Weak transcription	NHLF	lung
37	chr5:126406400-126408600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:126406400-126408800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:126406600-126408400	Weak transcription	Left Ventricle	heart
40	chr5:126406600-126408600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:126406600-126409000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:126406600-126409400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:126406600-126409400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:126406600-126411800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:126406600-126412000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:126406600-126412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:126406800-126408400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:126406800-126411800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:126407200-126408400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr5:126407400-126408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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