Variant report

Variant	rs1863512
Chromosome Location	chr15:52959687-52959688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52954350..52957098-chr15:52957604..52959910,2	K562	blood:
2	chr15:52946056..52948651-chr15:52958978..52960779,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1080731	0.89[CHB][hapmap]
rs10851521	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070907	0.89[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11070908	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11070909	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11633933	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11853917	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11855616	0.89[CHB][hapmap]
rs11857150	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11858743	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12898644	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12902679	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[MKK][hapmap]
rs12914047	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12914502	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12915981	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13329393	0.89[CHB][hapmap]
rs17614559	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap]
rs2288271	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs2414160	0.89[CHB][hapmap]
rs2414161	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap]
rs2414163	0.95[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2414166	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2414167	0.89[CHB][hapmap]
rs34431049	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3751614	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4390542	0.89[CHB][hapmap]
rs4548810	0.95[CEU][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap]
rs4774634	0.95[CEU][hapmap]
rs4774636	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4776058	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs4776065	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4776066	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]
rs4776068	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62023352	0.82[AMR][1000 genomes]
rs7167494	0.89[CHB][hapmap]
rs8026800	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8030141	0.88[CHB][hapmap]
rs933860	0.93[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3410766	chr15:52959579-52959707	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1863512	KIAA1370	cis	Lymphoblastoid	GTEx
rs1863512	KIAA1370	cis	uninvolved skin	skin_eQTL
rs1863512	KIAA1370	cis	Liver	GTEx
rs1863512	MYO5A	cis	cerebellum	SCAN
rs1863512	KIAA1370	cis	normal skin	skin_eQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:52944200-52965800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:52944400-52969600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:52944400-52970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:52944600-52962000	Weak transcription	Aorta	Aorta
6	chr15:52944600-52965000	Strong transcription	Primary B cells from cord blood	blood
7	chr15:52944600-52965400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr15:52944600-52969800	Weak transcription	Fetal Brain Male	brain
9	chr15:52945000-52965400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:52945000-52968600	Weak transcription	HepG2	liver
11	chr15:52945200-52959800	Weak transcription	Dnd41	blood
12	chr15:52945400-52965400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:52945600-52962800	Strong transcription	Placenta	Placenta
14	chr15:52946000-52962000	Weak transcription	Right Ventricle	heart
15	chr15:52946000-52962000	Weak transcription	Spleen	Spleen
16	chr15:52946000-52965200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr15:52946000-52968200	Weak transcription	Fetal Heart	heart
18	chr15:52946000-52968600	Weak transcription	Stomach Mucosa	stomach
19	chr15:52949200-52965400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr15:52949200-52965600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:52949400-52966400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr15:52950000-52962000	Weak transcription	NHLF	lung
23	chr15:52950200-52959800	Weak transcription	NHEK	skin
24	chr15:52950400-52965800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:52950400-52965800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:52950400-52969400	Weak transcription	A549	lung
27	chr15:52950800-52960600	Strong transcription	Fetal Lung	lung
28	chr15:52950800-52968400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:52951000-52959800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:52951000-52965600	Strong transcription	Adipose Nuclei	Adipose
31	chr15:52951000-52970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:52951200-52960800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:52952000-52967400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:52952000-52968000	Strong transcription	Fetal Thymus	thymus
35	chr15:52952200-52967800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:52952400-52960600	Strong transcription	Fetal Muscle Leg	muscle
37	chr15:52952400-52960600	Strong transcription	HSMMtube	muscle
38	chr15:52952400-52963600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr15:52952400-52966200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:52952600-52960800	Strong transcription	Primary T cells from cord blood	blood
41	chr15:52952800-52960400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:52953000-52963200	Weak transcription	Psoas Muscle	Psoas
43	chr15:52953200-52965800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr15:52953200-52967800	Weak transcription	Fetal Intestine Small	intestine
45	chr15:52953600-52965000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:52953800-52963000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:52954600-52959800	Weak transcription	Fetal Kidney	kidney
48	chr15:52954800-52962000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:52955200-52960600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr15:52955200-52962000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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