Variant report

Variant	rs13185017
Chromosome Location	chr5:177578638-177578639
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177502808..177503618-chr5:177578172..177579025,4	MCF-7	breast:
2	chr5:177539043..177545979-chr5:177577141..177584026,12	K562	blood:
3	chr5:177578534..177581104-chr5:177631476..177634038,2	MCF-7	breast:
4	chr5:177556214..177559808-chr5:177575521..177582645,10	K562	blood:
5	chr5:177502594..177503991-chr5:177578124..177579458,23	MCF-7	breast:
6	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145916	Chromatin interaction
ENSG00000145911	Chromatin interaction
ENSG00000197451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10035478	0.89[ASN][1000 genomes]
rs10060446	0.81[ASN][1000 genomes]
rs11948118	0.88[ASN][1000 genomes]
rs13165989	0.81[ASN][1000 genomes]
rs13189047	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13436876	0.89[ASN][1000 genomes]
rs34093388	0.81[ASN][1000 genomes]
rs34353050	0.81[ASN][1000 genomes]
rs34594900	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35027513	0.98[ASN][1000 genomes]
rs35433113	0.83[EUR][1000 genomes]
rs35598853	0.81[ASN][1000 genomes]
rs35885458	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36087128	0.86[ASN][1000 genomes]
rs3812074	0.86[ASN][1000 genomes]
rs3812075	0.88[ASN][1000 genomes]
rs3812079	0.88[ASN][1000 genomes]
rs4549545	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4637566	0.89[ASN][1000 genomes]
rs62392212	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6601217	0.84[ASN][1000 genomes]
rs6873523	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7447860	0.89[ASN][1000 genomes]
rs7716860	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	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
4	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
5	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177559000-177580000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:177559000-177580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:177559200-177579800	Weak transcription	Right Atrium	heart
4	chr5:177560200-177579400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:177560200-177579600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:177560200-177579800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:177560600-177579400	Strong transcription	Fetal Intestine Small	intestine
8	chr5:177560800-177579400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:177560800-177579600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:177561000-177578800	Strong transcription	Thymus	Thymus
11	chr5:177561000-177579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:177561000-177579400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:177561000-177579800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr5:177561200-177578800	Strong transcription	Primary T cells from cord blood	blood
15	chr5:177561200-177579400	Strong transcription	Fetal Thymus	thymus
16	chr5:177562200-177578800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:177567000-177578800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:177567000-177579000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:177567400-177579000	Strong transcription	Fetal Brain Female	brain
20	chr5:177568000-177578800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:177568200-177579400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr5:177568800-177578800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:177568800-177579600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:177569000-177579000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:177569000-177579600	Strong transcription	Osteobl	bone
26	chr5:177569200-177579000	Strong transcription	Fetal Intestine Large	intestine
27	chr5:177569800-177579400	Strong transcription	NHDF-Ad	bronchial
28	chr5:177570600-177578800	Weak transcription	Fetal Heart	heart
29	chr5:177571400-177579000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:177571800-177578800	Strong transcription	Fetal Stomach	stomach
31	chr5:177572400-177579000	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr5:177572600-177578800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:177572600-177579800	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr5:177572800-177578800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:177572800-177578800	Strong transcription	Ovary	ovary
36	chr5:177572800-177579000	Strong transcription	Primary B cells from cord blood	blood
37	chr5:177572800-177579400	Strong transcription	NHLF	lung
38	chr5:177572800-177579600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:177573000-177578800	Strong transcription	Fetal Lung	lung
40	chr5:177573000-177579000	Strong transcription	HUVEC	blood vessel
41	chr5:177573000-177579200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr5:177573000-177579200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:177573200-177579000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:177573200-177579200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:177573200-177579400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:177573800-177578800	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr5:177573800-177579200	Strong transcription	Hela-S3	cervix
48	chr5:177574000-177578800	Strong transcription	A549	lung
49	chr5:177574200-177579000	Strong transcription	Placenta	Placenta
50	chr5:177574200-177579200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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