Variant report

Variant	rs7175365
Chromosome Location	chr15:45022771-45022772
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44953583..44958025-chr15:45017998..45023674,11	MCF-7	breast:
2	chr15:45002519..45006188-chr15:45021478..45023982,4	MCF-7	breast:
3	chr15:44952092..44957540-chr15:45017481..45022918,18	K562	blood:
4	chr15:45022234..45024194-chr15:45049585..45052010,2	K562	blood:
5	chr15:45000863..45005844-chr15:45018710..45023352,9	MCF-7	breast:
6	chr15:45021620..45024215-chr15:45028618..45030291,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229474	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000185880	Chromatin interaction
ENSG00000104133	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1288092	1.00[ASN][1000 genomes]
rs1299814	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720727	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17229438	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518229	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17518621	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17588988	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17590443	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123148	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218929	1.00[ASN][1000 genomes]
rs2443977	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28489322	0.87[EUR][1000 genomes]
rs28490581	0.87[EUR][1000 genomes]
rs28733998	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28857509	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924121	1.00[ASN][1000 genomes]
rs35462944	0.87[EUR][1000 genomes]
rs59030658	0.83[EUR][1000 genomes]
rs62024992	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62024993	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62024994	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025030	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025031	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025033	1.00[ASN][1000 genomes]
rs62025036	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025965	0.87[EUR][1000 genomes]
rs62025966	0.87[EUR][1000 genomes]
rs62025971	0.87[EUR][1000 genomes]
rs62025996	1.00[ASN][1000 genomes]
rs62025997	1.00[ASN][1000 genomes]
rs62025998	1.00[ASN][1000 genomes]
rs7167663	0.83[EUR][1000 genomes]
rs7168673	1.00[CEU][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes]
rs7170996	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175751	0.85[EUR][1000 genomes]
rs7181308	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181488	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182388	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182597	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183658	1.00[CEU][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes]
rs8023272	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023794	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031964	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033099	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036450	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037029	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042821	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043138	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7175365	TRIM69	cis	Muscle Skeletal	GTEx
rs7175365	TRIM69	cis	Artery Aorta	GTEx
rs7175365	TRIM69	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45020200-45023000	Active TSS	Brain Anterior Caudate	brain
2	chr15:45020400-45022800	Active TSS	Brain Germinal Matrix	brain
3	chr15:45020400-45022800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:45020400-45023600	Active TSS	GM12878-XiMat	blood
5	chr15:45020600-45022800	Active TSS	Fetal Brain Female	brain
6	chr15:45020600-45023000	Active TSS	Brain Angular Gyrus	brain
7	chr15:45020600-45023000	Active TSS	Brain Cingulate Gyrus	brain
8	chr15:45020600-45023000	Active TSS	Brain Hippocampus Middle	brain
9	chr15:45020600-45023000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr15:45020600-45023000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr15:45020600-45023000	Active TSS	Right Atrium	heart
12	chr15:45020600-45023000	Active TSS	Right Ventricle	heart
13	chr15:45020600-45023000	Active TSS	NHLF	lung
14	chr15:45020800-45022800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:45020800-45022800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr15:45020800-45022800	Active TSS	NHDF-Ad	bronchial
17	chr15:45020800-45023000	Active TSS	Duodenum Mucosa	Duodenum
18	chr15:45021000-45022800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:45021000-45022800	Active TSS	Thymus	Thymus
20	chr15:45021200-45023000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr15:45021400-45022800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:45021600-45022800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr15:45021600-45023400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr15:45021800-45023800	Weak transcription	Gastric	stomach
25	chr15:45022000-45022800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:45022000-45022800	Flanking Active TSS	Liver	Liver
27	chr15:45022000-45023000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr15:45022000-45023000	Flanking Active TSS	Hela-S3	cervix
29	chr15:45022000-45023200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr15:45022000-45023200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:45022000-45023400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr15:45022000-45023800	Weak transcription	Spleen	Spleen
33	chr15:45022000-45024400	Weak transcription	Pancreas	Pancrea
34	chr15:45022000-45024600	Weak transcription	Esophagus	oesophagus
35	chr15:45022200-45022800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr15:45022200-45022800	Weak transcription	Left Ventricle	heart
37	chr15:45022200-45023000	Enhancers	Fetal Lung	lung
38	chr15:45022200-45023000	Weak transcription	Small Intestine	intestine
39	chr15:45022200-45023200	Enhancers	Fetal Intestine Small	intestine
40	chr15:45022200-45023400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:45022200-45023600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr15:45022200-45023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:45022200-45023600	Weak transcription	HSMMtube	muscle
44	chr15:45022200-45023800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr15:45022200-45023800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:45022200-45023800	Weak transcription	Lung	lung
47	chr15:45022200-45023800	Weak transcription	Ovary	ovary
48	chr15:45022200-45027200	Weak transcription	Aorta	Aorta
49	chr15:45022200-45027600	Weak transcription	Colonic Mucosa	Colon
50	chr15:45022200-45027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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