Variant report

Variant	rs2253217
Chromosome Location	chr6:13600459-13600460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13597383..13600646-chr6:13608396..13612792,3	K562	blood:
2	chr6:13598607..13600652-chr6:13612903..13615506,2	MCF-7	breast:
3	chr6:13599355..13602057-chr6:13614335..13617136,3	K562	blood:
4	chr6:13598348..13600799-chr6:13605033..13607847,3	K562	blood:
5	chr6:13594654..13597328-chr6:13598596..13601832,4	K562	blood:
6	chr6:13599146..13601637-chr6:13608396..13610260,2	K562	blood:
7	chr6:13593118..13602779-chr6:13610915..13617941,16	K562	blood:
8	chr6:13587382..13590011-chr6:13598741..13600524,2	K562	blood:
9	chr6:13593337..13595271-chr6:13598718..13601065,2	MCF-7	breast:
10	chr6:13594654..13597328-chr6:13598596..13600672,2	K562	blood:
11	chr6:13598043..13602874-chr6:13603391..13607847,6	K562	blood:
12	chr6:13573221..13575308-chr6:13598365..13600815,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10484251	0.91[CEU][hapmap];0.84[GIH][hapmap]
rs11753232	0.91[CEU][hapmap]
rs11759518	0.86[CEU][hapmap]
rs12209803	0.82[LWK][hapmap];0.85[YRI][hapmap]
rs12664567	0.80[YRI][hapmap]
rs2299026	0.85[CEU][hapmap]
rs2299027	0.86[CEU][hapmap];0.87[GIH][hapmap]
rs2804921	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2841515	0.85[YRI][hapmap]
rs2841523	0.85[YRI][hapmap]
rs3823453	0.83[YRI][hapmap]
rs4715512	0.81[CEU][hapmap]
rs72829106	0.89[ASN][1000 genomes]
rs7760411	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2253217	SIRT5	cis	parietal	SCAN
rs2253217	RANBP9	cis	cerebellum	SCAN
rs2253217	SIRT5	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13575600-13608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:13575600-13613800	Weak transcription	Stomach Mucosa	stomach
3	chr6:13575600-13614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:13575800-13614200	Weak transcription	HUVEC	blood vessel
5	chr6:13575800-13614600	Weak transcription	Right Atrium	heart
6	chr6:13576200-13614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:13578600-13601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:13580400-13614800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:13585000-13600800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:13585600-13613800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:13586800-13601600	Strong transcription	Primary B cells from cord blood	blood
12	chr6:13586800-13602200	Strong transcription	Fetal Stomach	stomach
13	chr6:13586800-13602400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr6:13586800-13603000	Strong transcription	Primary T cells from cord blood	blood
15	chr6:13586800-13606800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr6:13586800-13608000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:13587000-13602000	Strong transcription	Adipose Nuclei	Adipose
18	chr6:13587000-13602400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:13587000-13603000	Strong transcription	Fetal Muscle Leg	muscle
20	chr6:13587000-13608600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr6:13587800-13600800	Weak transcription	HSMMtube	muscle
22	chr6:13588400-13614200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:13588600-13600800	Weak transcription	NHDF-Ad	bronchial
24	chr6:13588600-13611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:13588600-13614000	Weak transcription	NHLF	lung
26	chr6:13588600-13614400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:13588800-13614600	Weak transcription	Small Intestine	intestine
28	chr6:13589000-13608000	Strong transcription	Liver	Liver
29	chr6:13589000-13611800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:13589000-13614400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:13590400-13601600	Strong transcription	Right Ventricle	heart
32	chr6:13590400-13608000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr6:13590800-13601600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr6:13591000-13601600	Strong transcription	Brain Substantia Nigra	brain
35	chr6:13591000-13602200	Strong transcription	Ovary	ovary
36	chr6:13591000-13602600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:13591200-13601800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:13591200-13607000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:13591200-13607000	Strong transcription	Left Ventricle	heart
40	chr6:13591400-13600800	Weak transcription	Fetal Heart	heart
41	chr6:13591400-13602000	Weak transcription	HSMM	muscle
42	chr6:13591400-13603000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:13591600-13600800	Weak transcription	K562	blood
44	chr6:13591600-13605400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:13591800-13601800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr6:13591800-13603000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:13591800-13603800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:13591800-13605600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:13591800-13606600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:13592000-13606800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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