Variant report

Variant	rs13358321
Chromosome Location	chr5:179251610-179251611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179047278..179052613-chr5:179246048..179251997,13	K562	blood:
2	chr5:179250978..179253020-chr5:179333255..179335117,2	MCF-7	breast:
3	chr5:179246544..179252042-chr5:179284250..179287282,6	K562	blood:
4	chr5:179159426..179161743-chr5:179249637..179251731,2	MCF-7	breast:
5	chr5:179249726..179253531-chr5:179284409..179289652,9	K562	blood:
6	chr5:179200621..179203177-chr5:179250924..179255178,5	K562	blood:

Variant related genes	Relation type
ENSG00000169045	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10040357	1.00[EUR][1000 genomes]
rs10058037	1.00[EUR][1000 genomes]
rs11743197	1.00[EUR][1000 genomes]
rs13356823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs156099	1.00[EUR][1000 genomes]
rs17079679	1.00[EUR][1000 genomes]
rs1960428	1.00[EUR][1000 genomes]
rs269459	1.00[EUR][1000 genomes]
rs269460	1.00[EUR][1000 genomes]
rs28656195	1.00[EUR][1000 genomes]
rs4438838	1.00[EUR][1000 genomes]
rs56844432	1.00[EUR][1000 genomes]
rs57000847	1.00[EUR][1000 genomes]
rs57104438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58007232	1.00[EUR][1000 genomes]
rs58225020	1.00[EUR][1000 genomes]
rs58586529	1.00[EUR][1000 genomes]
rs58899481	1.00[EUR][1000 genomes]
rs60407359	1.00[EUR][1000 genomes]
rs60822577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61330504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6863030	1.00[EUR][1000 genomes]
rs6872508	1.00[EUR][1000 genomes]
rs73810492	1.00[EUR][1000 genomes]
rs73810493	1.00[EUR][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	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
10	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
11	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 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	chr5:179248600-179253000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:179248800-179253000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:179249000-179252000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:179249000-179252000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
5	chr5:179249000-179253000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:179249000-179253000	Transcr. at gene 5' and 3'	A549	lung
7	chr5:179249000-179253000	Transcr. at gene 5' and 3'	Hela-S3	cervix
8	chr5:179249000-179253200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
9	chr5:179249200-179251800	Transcr. at gene 5' and 3'	Liver	Liver
10	chr5:179249200-179252000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:179249200-179252400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
12	chr5:179249400-179252200	Genic enhancers	Spleen	Spleen
13	chr5:179249400-179253000	Transcr. at gene 5' and 3'	HepG2	liver
14	chr5:179249400-179254800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:179249600-179251800	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr5:179249600-179252400	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr5:179249600-179253000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:179249600-179262600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:179249800-179252000	Genic enhancers	Brain Substantia Nigra	brain
20	chr5:179249800-179252200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:179249800-179261600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:179250000-179251800	Genic enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:179250000-179252000	Genic enhancers	Esophagus	oesophagus
24	chr5:179250000-179252000	Strong transcription	HSMM	muscle
25	chr5:179250000-179252400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:179250000-179252800	Genic enhancers	Brain Hippocampus Middle	brain
27	chr5:179250000-179254000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:179250000-179254200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:179250000-179254600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:179250000-179254600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:179250000-179255000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:179250000-179255000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:179250000-179255200	Genic enhancers	Fetal Intestine Large	intestine
34	chr5:179250000-179255200	Genic enhancers	Placenta	Placenta
35	chr5:179250000-179255400	Genic enhancers	Fetal Intestine Small	intestine
36	chr5:179250000-179255800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr5:179250000-179260800	Strong transcription	Dnd41	blood
38	chr5:179250000-179261000	Strong transcription	NHEK	skin
39	chr5:179250000-179261200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr5:179250000-179261200	Strong transcription	Fetal Lung	lung
41	chr5:179250000-179261400	Strong transcription	Fetal Brain Female	brain
42	chr5:179250000-179261600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:179250000-179261600	Strong transcription	Fetal Stomach	stomach
44	chr5:179250000-179263000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:179250200-179252000	Genic enhancers	Left Ventricle	heart
46	chr5:179250200-179252400	Genic enhancers	Colon Smooth Muscle	Colon
47	chr5:179250200-179252400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:179250200-179252400	Genic enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:179250200-179252800	Genic enhancers	Gastric	stomach
50	chr5:179250200-179253000	Genic enhancers	Brain Angular Gyrus	brain

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