Variant report

Variant	rs3751614
Chromosome Location	chr15:52901638-52901639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:52901471-52901829	K562	blood:	n/a	n/a
2	CEBPB	chr15:52901512-52901992	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52901526..52903725-chr15:52969429..52971741,2	MCF-7	breast:
2	chr15:52894420..52896293-chr15:52901016..52903644,2	MCF-7	breast:
3	chr15:52878282..52881403-chr15:52901150..52903681,3	K562	blood:

Variant related genes	Relation type
FAM214A	TF binding region
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1080731	1.00[CHB][hapmap]
rs10851521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11070907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070908	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11070909	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11633933	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11853917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855616	1.00[CHB][hapmap]
rs11857150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858743	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12232257	0.91[JPT][hapmap]
rs12898644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12902679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap]
rs12903617	0.81[ASN][1000 genomes]
rs12914047	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12914502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12915981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329393	1.00[CHB][hapmap]
rs17614559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1863512	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]
rs2288271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2414160	1.00[CHB][hapmap]
rs2414161	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs2414163	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2414166	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414167	1.00[CHB][hapmap]
rs34431049	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35372377	0.81[ASN][1000 genomes]
rs35505902	0.81[ASN][1000 genomes]
rs4390542	1.00[CHB][hapmap]
rs4548810	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs4774634	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4774636	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4776058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4776059	0.81[ASN][1000 genomes]
rs4776063	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs4776065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4776066	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]
rs4776068	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62023352	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7167494	1.00[CHB][hapmap]
rs8026800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8030141	1.00[CHB][hapmap]
rs933860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[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	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3751614	KIAA1370	cis	Lymphoblastoid	GTEx
rs3751614	KIAA1370	cis	uninvolved skin	skin_eQTL
rs3751614	MYO5A	cis	cerebellum	SCAN
rs3751614	KIAA1370	cis	normal skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861200-52925200	Weak transcription	Stomach Mucosa	stomach
2	chr15:52861800-52908400	Weak transcription	Gastric	stomach
3	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
4	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
5	chr15:52870200-52905000	Weak transcription	HMEC	breast
6	chr15:52871800-52902200	Weak transcription	Fetal Brain Male	brain
7	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:52872200-52933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:52872600-52920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:52873400-52928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:52873800-52909600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr15:52874200-52917000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:52874800-52944200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:52875400-52916200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:52878200-52909600	Strong transcription	Liver	Liver
16	chr15:52882200-52920000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr15:52882400-52906200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr15:52882400-52926000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr15:52885600-52902000	Weak transcription	NHLF	lung
20	chr15:52885600-52903800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:52885600-52945200	Weak transcription	Spleen	Spleen
22	chr15:52890600-52906000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr15:52891200-52902000	Weak transcription	Lung	lung
24	chr15:52891200-52903800	Weak transcription	Fetal Intestine Small	intestine
25	chr15:52891400-52927600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:52891600-52908400	Weak transcription	Aorta	Aorta
27	chr15:52894600-52904400	Strong transcription	Primary T cells from cord blood	blood
28	chr15:52894600-52906000	Strong transcription	Fetal Intestine Large	intestine
29	chr15:52895400-52902200	Weak transcription	Fetal Heart	heart
30	chr15:52896800-52904200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:52896800-52904200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:52897000-52902200	Weak transcription	Fetal Kidney	kidney
33	chr15:52897000-52904400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:52897200-52902800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr15:52897800-52902200	Weak transcription	NHDF-Ad	bronchial
36	chr15:52897800-52903400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:52898200-52903800	Strong transcription	Placenta	Placenta
38	chr15:52898600-52902000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:52899000-52920400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:52899200-52902400	Strong transcription	Fetal Brain Female	brain
41	chr15:52899400-52904000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:52899400-52906000	Strong transcription	Fetal Thymus	thymus
43	chr15:52899400-52906200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:52899600-52904600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr15:52899600-52906000	Strong transcription	Left Ventricle	heart
46	chr15:52899600-52917000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:52899600-52944400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:52899800-52905200	Strong transcription	Fetal Lung	lung
49	chr15:52900000-52904200	Strong transcription	Brain Anterior Caudate	brain
50	chr15:52900000-52904200	Strong transcription	Stomach Smooth Muscle	stomach

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