Variant report

Variant	rs2328676
Chromosome Location	chr6:13576708-13576709
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
2	chr6:13358275..13360679-chr6:13575096..13577524,3	MCF-7	breast:
3	chr6:13572710..13576955-chr6:13610549..13618685,22	MCF-7	breast:
4	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
5	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
6	chr6:13535769..13538764-chr6:13574933..13577249,3	MCF-7	breast:
7	chr6:13573004..13578027-chr6:13613856..13617870,10	MCF-7	breast:
8	chr6:13575661..13578195-chr6:13588968..13591266,4	K562	blood:
9	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
10	chr6:13572923..13577086-chr6:13614342..13617597,6	K562	blood:
11	chr6:13574510..13576795-chr6:13678124..13681559,3	K562	blood:
12	chr6:13287477..13291631-chr6:13573758..13576939,3	K562	blood:
13	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
14	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
15	chr6:13327393..13331113-chr6:13573725..13577168,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237786	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000272379	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11753306	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804911	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804914	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804916	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804920	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804922	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804924	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804925	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2804926	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804927	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2841505	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2841506	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2841507	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2841508	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2841509	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2841511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4712037	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3367329	chr6:13573423-13576971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2328676	SIRT5	cis	Thyroid	GTEx
rs2328676	SIRT5	cis	cerebellum	SCAN
rs2328676	SIRT5	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13575600-13577400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr6:13575600-13580000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:13575600-13580200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:13575600-13580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:13575600-13580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:13575600-13580200	Weak transcription	Ovary	ovary
7	chr6:13575600-13580200	Weak transcription	Spleen	Spleen
8	chr6:13575600-13580800	Weak transcription	Aorta	Aorta
9	chr6:13575600-13580800	Weak transcription	Left Ventricle	heart
10	chr6:13575600-13581400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:13575600-13581600	Weak transcription	Psoas Muscle	Psoas
12	chr6:13575600-13581600	Weak transcription	Right Ventricle	heart
13	chr6:13575600-13581600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:13575600-13581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:13575600-13581800	Weak transcription	Brain Angular Gyrus	brain
16	chr6:13575600-13581800	Weak transcription	Lung	lung
17	chr6:13575600-13584000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:13575600-13584400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:13575600-13584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:13575600-13584400	Weak transcription	Brain Anterior Caudate	brain
21	chr6:13575600-13584400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:13575600-13586800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:13575600-13586800	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:13575600-13586800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:13575600-13587000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:13575600-13587000	Weak transcription	Colonic Mucosa	Colon
27	chr6:13575600-13587000	Weak transcription	Esophagus	oesophagus
28	chr6:13575600-13587000	Weak transcription	NHLF	lung
29	chr6:13575600-13587200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:13575600-13587200	Weak transcription	Gastric	stomach
31	chr6:13575600-13587200	Weak transcription	Pancreas	Pancrea
32	chr6:13575600-13587600	Weak transcription	NHDF-Ad	bronchial
33	chr6:13575600-13587800	Weak transcription	Fetal Lung	lung
34	chr6:13575600-13588200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:13575600-13588400	Weak transcription	Fetal Brain Male	brain
36	chr6:13575600-13608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:13575600-13613800	Weak transcription	Stomach Mucosa	stomach
38	chr6:13575600-13614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:13575800-13576800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:13575800-13577600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr6:13575800-13577600	Enhancers	HepG2	liver
42	chr6:13575800-13579200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:13575800-13580200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:13575800-13580200	Weak transcription	Adipose Nuclei	Adipose
45	chr6:13575800-13580200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:13575800-13580200	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:13575800-13580200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr6:13575800-13580400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:13575800-13580400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:13575800-13581600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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