Variant report

Variant	rs6595179
Chromosome Location	chr5:118545112-118545113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118542220..118543849-chr5:118544632..118547228,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10052879	0.95[ASN][1000 genomes]
rs11241489	0.84[ASN][1000 genomes]
rs11241498	0.85[ASN][1000 genomes]
rs1394629	0.89[ASN][1000 genomes]
rs2404395	0.89[ASN][1000 genomes]
rs34867936	0.82[EUR][1000 genomes]
rs4286709	0.89[ASN][1000 genomes]
rs4583917	0.85[ASN][1000 genomes]
rs6595178	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6880622	0.85[ASN][1000 genomes]
rs7702867	0.81[ASN][1000 genomes]
rs7720231	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1031914	chr5:118516878-118589497	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6595179	COL6A1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
2	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
3	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
4	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
5	chr5:118503800-118585800	Weak transcription	NH-A	brain
6	chr5:118505400-118554600	Weak transcription	HepG2	liver
7	chr5:118507800-118580200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:118514400-118589000	Weak transcription	Pancreas	Pancrea
9	chr5:118514400-118591400	Weak transcription	Esophagus	oesophagus
10	chr5:118514600-118554800	Weak transcription	NHDF-Ad	bronchial
11	chr5:118516200-118554800	Weak transcription	Osteobl	bone
12	chr5:118521200-118571000	Weak transcription	HMEC	breast
13	chr5:118524200-118570800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:118524400-118571000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:118524600-118561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:118524600-118584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:118527800-118549000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:118534600-118574200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:118535000-118554600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:118535000-118560800	Weak transcription	Gastric	stomach
21	chr5:118535000-118579600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:118535000-118584800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:118535000-118587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:118535000-118588200	Weak transcription	Lung	lung
25	chr5:118535000-118589000	Weak transcription	Aorta	Aorta
26	chr5:118535200-118548000	Weak transcription	Fetal Heart	heart
27	chr5:118535200-118548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:118535200-118548200	Weak transcription	HSMMtube	muscle
29	chr5:118535200-118555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:118535200-118575200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:118535400-118553000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:118535400-118554600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:118535400-118555400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:118535400-118569400	Weak transcription	Thymus	Thymus
35	chr5:118535600-118548600	Weak transcription	Psoas Muscle	Psoas
36	chr5:118535600-118554800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:118535600-118555800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:118535800-118554400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:118536000-118554600	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:118536400-118556000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:118536400-118556200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:118536400-118569800	Weak transcription	Brain Angular Gyrus	brain
43	chr5:118536400-118580000	Weak transcription	Fetal Brain Male	brain
44	chr5:118537400-118549800	Weak transcription	K562	blood
45	chr5:118537600-118554600	Weak transcription	HUVEC	blood vessel
46	chr5:118538200-118550600	Weak transcription	Primary T cells from cord blood	blood
47	chr5:118538200-118553000	Weak transcription	Brain Anterior Caudate	brain
48	chr5:118538200-118554600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:118538200-118562000	Weak transcription	Brain Germinal Matrix	brain
50	chr5:118538200-118569000	Weak transcription	Ovary	ovary

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