Variant report

Variant	rs73339287
Chromosome Location	chr5:126409787-126409788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:126408567-126409839	HepG2	liver:	n/a	n/a
2	MAZ	chr5:126409771-126409932	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:126409775-126409909	A549	lung:	n/a	n/a
4	POLR2A	chr5:126409700-126409854	MCF-7	breast:	n/a	n/a
5	POLR2A	chr5:126409677-126409816	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:126408160-126409912	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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:
5	chr5:126403735..126406499-chr5:126409532..126411387,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MEGF10-6	chr5:126409279-126411296	NONHSAT103610

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57434625	1.00[AMR][1000 genomes]
rs61021974	1.00[AMR][1000 genomes]
rs61292941	1.00[AMR][1000 genomes]
rs61443321	1.00[AMR][1000 genomes]
rs6595748	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6890333	1.00[AMR][1000 genomes]
rs73335432	1.00[AMR][1000 genomes]
rs73337224	1.00[AMR][1000 genomes]
rs73339266	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339276	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341204	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342965	1.00[AMR][1000 genomes]
rs9687587	1.00[AMR][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126393600-126412000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126406600-126411800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:126406600-126412000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:126406600-126412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:126406800-126411800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:126408200-126410000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:126408400-126409800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:126408400-126409800	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:126408400-126409800	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:126408400-126409800	Active TSS	HSMM	muscle
11	chr5:126408400-126409800	Active TSS	Osteobl	bone
12	chr5:126408600-126410000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr5:126408800-126409800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr5:126408800-126409800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:126408800-126410000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:126409000-126409800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:126409000-126409800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:126409000-126410000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:126409200-126409800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:126409400-126409800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:126409400-126409800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:126409400-126409800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:126409400-126409800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:126409400-126409800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:126409400-126409800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr5:126409400-126409800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr5:126409400-126409800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr5:126409400-126409800	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr5:126409400-126409800	Flanking Active TSS	Placenta	Placenta
30	chr5:126409400-126409800	Flanking Active TSS	Pancreas	Pancrea
31	chr5:126409400-126409800	Flanking Active TSS	Stomach Mucosa	stomach
32	chr5:126409400-126409800	Flanking Active TSS	GM12878-XiMat	blood
33	chr5:126409400-126410000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:126409400-126410000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr5:126409400-126410000	Enhancers	Spleen	Spleen
36	chr5:126409400-126410000	Flanking Active TSS	HepG2	liver
37	chr5:126409400-126412000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:126409400-126412000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:126409400-126412600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:126409600-126409800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:126409600-126409800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:126409600-126409800	Enhancers	Primary B cells from peripheral blood	blood
43	chr5:126409600-126409800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:126409600-126409800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:126409600-126409800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:126409600-126409800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:126409600-126409800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:126409600-126409800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:126409600-126409800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr5:126409600-126409800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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