Variant report

Variant	rs6597129
Chromosome Location	chr6:5482653-5482654
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs200193	1.00[EUR][1000 genomes]
rs418040	1.00[EUR][1000 genomes]
rs57438455	1.00[EUR][1000 genomes]
rs73354473	1.00[EUR][1000 genomes]
rs9392687	1.00[EUR][1000 genomes]
rs9504408	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv600886	chr6:5426265-5511614	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1017506	chr6:5443538-5551125	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6597129	F13A1	cis	lymphoblastoid	seeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5434200-5487000	Weak transcription	Aorta	Aorta
2	chr6:5449000-5499400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:5456400-5486000	Weak transcription	Thymus	Thymus
4	chr6:5457800-5487400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:5458800-5483000	Weak transcription	Pancreas	Pancrea
6	chr6:5459000-5486400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:5461600-5507200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:5466400-5518200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:5466600-5506400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:5466800-5502200	Weak transcription	Gastric	stomach
11	chr6:5467200-5487400	Weak transcription	Lung	lung
12	chr6:5468400-5487800	Weak transcription	Primary B cells from cord blood	blood
13	chr6:5471600-5487400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:5471800-5489400	Weak transcription	Small Intestine	intestine
15	chr6:5471800-5505800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:5472200-5487400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:5472400-5511600	Weak transcription	Fetal Stomach	stomach
18	chr6:5472600-5491800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:5472600-5496800	Weak transcription	NHDF-Ad	bronchial
20	chr6:5472600-5499400	Weak transcription	Spleen	Spleen
21	chr6:5472600-5501800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:5472600-5506200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:5477800-5490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:5478000-5486800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:5479400-5487400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:5480200-5489200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:5480200-5489400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:5481200-5483600	Strong transcription	Primary T cells from cord blood	blood
29	chr6:5481400-5489200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:5481400-5497600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:5481600-5483000	Enhancers	Fetal Brain Female	brain
32	chr6:5481600-5483200	Weak transcription	Psoas Muscle	Psoas
33	chr6:5481600-5483400	Enhancers	Left Ventricle	heart
34	chr6:5481600-5484200	Weak transcription	Right Atrium	heart
35	chr6:5481600-5486600	Weak transcription	NHEK	skin
36	chr6:5481600-5487400	Weak transcription	Adipose Nuclei	Adipose
37	chr6:5481600-5489400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:5481600-5489600	Weak transcription	Ovary	ovary
39	chr6:5481600-5490400	Weak transcription	Brain Germinal Matrix	brain
40	chr6:5481600-5492200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:5481600-5493800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:5481600-5496000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:5481600-5496800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:5481600-5499400	Weak transcription	Right Ventricle	heart
45	chr6:5481600-5499600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:5481600-5500600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:5481800-5484800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:5481800-5486600	Weak transcription	HMEC	breast
49	chr6:5481800-5489400	Weak transcription	Fetal Lung	lung
50	chr6:5481800-5490400	Weak transcription	Brain Inferior Temporal Lobe	brain

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