Variant report

Variant	rs13360296
Chromosome Location	chr5:178054930-178054931
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	WRNIP1	chr5:178054421-178054951	GM12878	blood:	n/a	n/a
2	MAZ	chr5:178051632-178054946	IMR90	lung:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054543-178054554 chr5:178054544-178054553 chr5:178054543-178054554 chr5:178054333-178054340
3	POLR2A	chr5:178054753-178054945	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178052822..178055819-chr5:178156143..178158096,2	MCF-7	breast:
2	chr5:178052987..178056050-chr5:178056072..178058258,3	MCF-7	breast:
3	chr5:178054261..178056030-chr5:178057503..178059124,2	MCF-7	breast:
4	chr5:178053026..178055082-chr6:26156240..26159025,2	MCF-7	breast:
5	chr5:178054847..178056678-chr5:178067285..178069085,2	K562	blood:
6	chr5:178054153..178056905-chr5:178057584..178060537,3	K562	blood:
7	chr5:178053391..178055177-chr5:178285758..178288394,2	MCF-7	breast:

Variant related genes	Relation type
CLK4	TF binding region
ENSG00000158373	Chromatin interaction
ENSG00000178338	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000113240	Chromatin interaction
ENSG00000169131	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10035557	0.94[ASN][1000 genomes]
rs10051137	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10061455	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10061883	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10064009	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10065419	0.85[ASN][1000 genomes]
rs10070794	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10073925	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10479501	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11740396	0.82[EUR][1000 genomes]
rs11742564	0.95[ASN][1000 genomes]
rs11744815	0.95[ASN][1000 genomes]
rs11748909	0.94[ASN][1000 genomes]
rs11953546	0.94[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12654185	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12654187	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12719855	0.88[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13161074	0.89[ASN][1000 genomes]
rs13187977	0.83[ASN][1000 genomes]
rs1472457	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1967419	0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2335442	0.94[ASN][1000 genomes]
rs262021	0.94[ASN][1000 genomes]
rs262028	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs262036	0.94[ASN][1000 genomes]
rs388749	0.93[ASN][1000 genomes]
rs4073633	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4077796	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4079109	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4079111	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4079112	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4301240	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4413550	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4418123	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4437394	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4521498	0.95[ASN][1000 genomes]
rs4976798	0.94[ASN][1000 genomes]
rs60509476	0.82[ASN][1000 genomes]
rs6600942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6866336	0.94[ASN][1000 genomes]
rs6866952	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6869889	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6871074	0.98[ASN][1000 genomes]
rs6874126	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6877022	0.88[ASN][1000 genomes]
rs6881073	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs721142	0.94[ASN][1000 genomes]
rs721143	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73353860	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73353883	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs752043	0.84[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7707891	0.97[ASN][1000 genomes]
rs7715291	0.94[ASN][1000 genomes]
rs7720708	0.94[ASN][1000 genomes]
rs7736565	0.94[ASN][1000 genomes]
rs776153	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3342261	chr5:178053396-178055344	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178054000-178055000	Active TSS	Brain Germinal Matrix	brain
2	chr5:178054600-178055000	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:178054600-178055000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr5:178054600-178055000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:178054600-178055000	Enhancers	Fetal Brain Male	brain
6	chr5:178054600-178055000	Enhancers	Fetal Muscle Leg	muscle
7	chr5:178054600-178055400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:178054600-178055800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:178054600-178057200	Enhancers	HepG2	liver
10	chr5:178054600-178057400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:178054600-178057400	Weak transcription	K562	blood
12	chr5:178054600-178057600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:178054600-178057800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:178054600-178058800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:178054600-178059200	Weak transcription	Right Atrium	heart
16	chr5:178054600-178061600	Weak transcription	HMEC	breast
17	chr5:178054800-178055000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr5:178054800-178055000	Enhancers	Primary B cells from cord blood	blood
19	chr5:178054800-178055000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:178054800-178055000	Enhancers	Colonic Mucosa	Colon
21	chr5:178054800-178055000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:178054800-178055000	Enhancers	Dnd41	blood
23	chr5:178054800-178057200	Weak transcription	NHEK	skin
24	chr5:178054800-178057400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:178054800-178057400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:178054800-178057400	Weak transcription	Hela-S3	cervix
27	chr5:178054800-178057400	Weak transcription	NH-A	brain
28	chr5:178054800-178057400	Weak transcription	Osteobl	bone
29	chr5:178054800-178058000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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