Variant report

Variant	rs13171074
Chromosome Location	chr5:1782838-1782839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1778219..1779959-chr5:1780959..1783079,2	K562	blood:
2	chr5:1769767..1771848-chr5:1781925..1784908,2	K562	blood:
3	chr5:1779811..1784236-chr5:1784390..1788657,7	K562	blood:
4	chr5:1771125..1773544-chr5:1782725..1784376,2	MCF-7	breast:
5	chr5:1780452..1785296-chr5:1786065..1791336,6	K562	blood:
6	chr5:1777386..1781042-chr5:1781579..1783555,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10447190	0.92[CHB][hapmap]
rs12515616	0.83[CHB][hapmap]
rs13173081	0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs13185340	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13186183	0.85[ASN][1000 genomes]
rs13186705	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13187053	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13187184	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2353590	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34303309	0.97[ASN][1000 genomes]
rs4975842	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4975843	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4975844	0.86[ASN][1000 genomes]
rs6859186	0.97[ASN][1000 genomes]
rs6881166	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6881496	0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6888984	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7444823	0.96[ASN][1000 genomes]
rs750495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	esv3375698	chr5:1780852-1785050	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1772400-1788400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1777800-1784400	Weak transcription	Right Atrium	heart
3	chr5:1782000-1783800	Flanking Active TSS	GM12878-XiMat	blood
4	chr5:1782000-1784600	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:1782200-1783400	Enhancers	Right Ventricle	heart
6	chr5:1782200-1783800	Enhancers	Fetal Thymus	thymus
7	chr5:1782200-1784400	Weak transcription	Spleen	Spleen
8	chr5:1782400-1783200	Flanking Active TSS	Fetal Heart	heart
9	chr5:1782400-1785000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:1782600-1783000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:1782800-1783000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:1782800-1783000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:1782800-1783000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
14	chr5:1782800-1783000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
15	chr5:1782800-1783000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
16	chr5:1782800-1783200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:1782800-1783200	Enhancers	Fetal Brain Female	brain
18	chr5:1782800-1783200	Enhancers	Pancreas	Pancrea
19	chr5:1782800-1783400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:1782800-1783400	Bivalent Enhancer	K562	blood
21	chr5:1782800-1786600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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