Variant report

Variant	rs4776066
Chromosome Location	chr15:52930499-52930500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52929482..52933252-chr15:52937332..52940683,4	MCF-7	breast:
2	chr15:52928061..52930593-chr15:52960432..52963206,2	MCF-7	breast:
3	chr15:52920111..52923064-chr15:52929395..52931419,2	MCF-7	breast:
4	chr15:52930180..52932512-chr15:52970750..52972942,2	MCF-7	breast:
5	chr15:52927735..52930583-chr15:52932709..52935463,2	K562	blood:

Variant related genes	Relation type
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1080731	1.00[CHB][hapmap]
rs10851521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070907	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11070908	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070909	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11633933	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs11853917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11855616	1.00[CHB][hapmap]
rs11857150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11858743	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12232257	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12898644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12902679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12914047	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12914502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12915981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13329393	1.00[CHB][hapmap]
rs17614559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1863512	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2414160	1.00[CHB][hapmap]
rs2414161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2414163	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414167	1.00[CHB][hapmap]
rs34431049	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4390542	1.00[CHB][hapmap]
rs4548810	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs4774634	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4774636	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4776058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4776063	0.88[CHB][hapmap]
rs4776065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776068	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62023352	0.87[ASN][1000 genomes]
rs7167494	1.00[CHB][hapmap]
rs8026800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030141	1.00[CHB][hapmap]
rs933860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv457140	chr15:52901433-52968746	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1049534	chr15:52903314-53022926	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4776066	KIAA1370	cis	normal skin	skin_eQTL
rs4776066	KIAA1370	cis	uninvolved skin	skin_eQTL
rs4776066	KIAA1370	cis	Lymphoblastoid	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
2	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
3	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:52872200-52933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:52874800-52944200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:52885600-52945200	Weak transcription	Spleen	Spleen
7	chr15:52899600-52944400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:52900600-52944000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr15:52900800-52945200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr15:52902200-52943800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:52902400-52934800	Weak transcription	NH-A	brain
12	chr15:52902600-52942000	Weak transcription	HUVEC	blood vessel
13	chr15:52903400-52933800	Weak transcription	Fetal Heart	heart
14	chr15:52903400-52943800	Weak transcription	Hela-S3	cervix
15	chr15:52903400-52944000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:52903600-52942400	Weak transcription	Dnd41	blood
17	chr15:52903600-52945400	Weak transcription	Colonic Mucosa	Colon
18	chr15:52904000-52934400	Weak transcription	Fetal Brain Male	brain
19	chr15:52904000-52943400	Weak transcription	Fetal Kidney	kidney
20	chr15:52904000-52945400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:52904000-52956800	Weak transcription	Esophagus	oesophagus
22	chr15:52906200-52934200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:52906200-52944000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:52908600-52956200	Weak transcription	Gastric	stomach
25	chr15:52909000-52942400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:52909600-52944000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:52909600-52950800	Weak transcription	Pancreas	Pancrea
28	chr15:52912200-52933200	Weak transcription	HSMM	muscle
29	chr15:52915600-52944200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:52915800-52938400	Weak transcription	Ovary	ovary
31	chr15:52916200-52934800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:52916200-52942800	Weak transcription	Fetal Brain Female	brain
33	chr15:52916800-52934400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:52916800-52934800	Weak transcription	Brain Substantia Nigra	brain
35	chr15:52916800-52936000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:52917000-52931400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr15:52917000-52938400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr15:52917000-52943600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:52920800-52942800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr15:52921000-52934400	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:52921800-52939400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr15:52921800-52939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:52922200-52934400	Strong transcription	Primary B cells from cord blood	blood
44	chr15:52922400-52933400	Weak transcription	GM12878-XiMat	blood
45	chr15:52922800-52933400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:52923200-52945200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:52924200-52932600	Strong transcription	Primary T cells from cord blood	blood
48	chr15:52924200-52934400	Weak transcription	Brain Anterior Caudate	brain
49	chr15:52925800-52934400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:52925800-52934400	Weak transcription	Colon Smooth Muscle	Colon

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