Variant report

Variant	rs204226
Chromosome Location	chr6:13706250-13706251
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13613870..13616304-chr6:13706155..13708100,2	MCF-7	breast:
2	chr6:13703438..13706019-chr6:13706100..13707717,2	MCF-7	breast:
3	chr6:13677684..13681560-chr6:13703690..13707660,4	K562	blood:
4	chr6:13700159..13702391-chr6:13702424..13706464,3	MCF-7	breast:
5	chr6:13678691..13681560-chr6:13700664..13706580,5	K562	blood:
6	chr6:13571943..13574615-chr6:13703735..13706256,3	K562	blood:
7	chr6:13613412..13615383-chr6:13705399..13707635,2	K562	blood:

Variant related genes	Relation type
ENSG00000261071	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000252966	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs204228	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs204232	0.96[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4715451	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7742342	0.89[LWK][hapmap];0.95[YRI][hapmap]
rs7742903	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs204226	SIRT5	cis	brain	BrainEAC

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13679000-13708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:13681000-13708600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:13686400-13709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:13690400-13707600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13690600-13707600	Weak transcription	Fetal Kidney	kidney
6	chr6:13690600-13708400	Weak transcription	Aorta	Aorta
7	chr6:13691200-13708000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:13692000-13707600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:13692200-13708400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:13692800-13708400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:13694000-13706800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:13694600-13706400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:13695000-13708000	Weak transcription	Hela-S3	cervix
14	chr6:13695000-13708200	Weak transcription	Fetal Brain Female	brain
15	chr6:13696200-13708200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:13696200-13708200	Weak transcription	Brain Substantia Nigra	brain
17	chr6:13696200-13708200	Weak transcription	Fetal Brain Male	brain
18	chr6:13696200-13708200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:13696400-13708000	Weak transcription	Fetal Lung	lung
20	chr6:13696600-13708400	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:13697200-13708000	Weak transcription	Brain Germinal Matrix	brain
22	chr6:13697200-13708000	Weak transcription	Fetal Intestine Large	intestine
23	chr6:13697200-13708400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:13697200-13708400	Weak transcription	NH-A	brain
25	chr6:13698200-13708000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:13698600-13708200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:13698600-13708400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:13699200-13707800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:13699200-13708200	Weak transcription	HSMM	muscle
30	chr6:13699200-13708400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:13700600-13708400	Weak transcription	Placenta	Placenta
32	chr6:13700800-13707800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:13700800-13708400	Weak transcription	Thymus	Thymus
34	chr6:13700800-13708600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:13700800-13710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:13701000-13708600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:13701400-13708200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:13703400-13708400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:13703600-13706800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:13703600-13708000	Weak transcription	Adipose Nuclei	Adipose
41	chr6:13703600-13708200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:13703600-13708200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:13703600-13708200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:13703600-13708200	Weak transcription	NHEK	skin
45	chr6:13703600-13708400	Weak transcription	Gastric	stomach
46	chr6:13703600-13708400	Weak transcription	Lung	lung
47	chr6:13703800-13706600	Genic enhancers	K562	blood
48	chr6:13703800-13707000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:13703800-13707000	Weak transcription	Esophagus	oesophagus
50	chr6:13703800-13707400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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