Variant report

Variant	rs4148442
Chromosome Location	chr13:95897758-95897759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11616679	0.82[CHB][hapmap]
rs12584649	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs17235152	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs2389224	0.82[AMR][1000 genomes]
rs2892714	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4148440	0.82[CHB][hapmap]
rs4148443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148452	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4258481	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4283094	0.81[CEU][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4479103	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7324354	0.96[ASN][1000 genomes]
rs7329555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7989281	0.82[EUR][1000 genomes]
rs8003006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9302051	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9524859	0.95[GIH][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs9524860	0.95[GIH][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs9524862	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9590216	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs9590220	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs9634642	0.80[GIH][hapmap]

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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4148442	ABCC4	cis	multi-tissue	Pritchard

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
2	chr13:95856400-95898200	Weak transcription	NHEK	skin
3	chr13:95859000-95901000	Weak transcription	Aorta	Aorta
4	chr13:95859200-95901400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:95859200-95902200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:95861600-95906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:95861800-95899000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr13:95862000-95898200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:95862200-95898200	Weak transcription	HSMMtube	muscle
10	chr13:95863000-95898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:95874800-95897800	Weak transcription	Pancreas	Pancrea
12	chr13:95874800-95898200	Weak transcription	Colonic Mucosa	Colon
13	chr13:95879200-95907400	Weak transcription	Small Intestine	intestine
14	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:95879600-95898200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
17	chr13:95880800-95898600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:95880800-95902400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:95881600-95904000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:95882200-95898200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr13:95884000-95898200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr13:95884200-95901200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:95884600-95898200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:95884800-95906400	Weak transcription	Hela-S3	cervix
25	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:95887200-95898200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:95888000-95909000	Weak transcription	Fetal Stomach	stomach
28	chr13:95888400-95906800	Weak transcription	Gastric	stomach
29	chr13:95889000-95899400	Weak transcription	HUVEC	blood vessel
30	chr13:95890000-95897800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:95890000-95898600	Weak transcription	Fetal Lung	lung
32	chr13:95890000-95907600	Weak transcription	Colon Smooth Muscle	Colon
33	chr13:95890800-95906400	Weak transcription	Osteobl	bone
34	chr13:95891800-95908000	Weak transcription	Esophagus	oesophagus
35	chr13:95892600-95905400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:95893000-95905400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr13:95893600-95899400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:95894000-95899400	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:95894000-95899600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr13:95894600-95898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr13:95895000-95900000	Enhancers	Primary hematopoietic stem cells	blood
42	chr13:95895200-95898600	Strong transcription	A549	lung
43	chr13:95895400-95900000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:95895400-95900000	Strong transcription	NHLF	lung
45	chr13:95895600-95899800	Weak transcription	Spleen	Spleen
46	chr13:95895800-95898200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:95895800-95899400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:95896000-95902000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:95896200-95897800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr13:95896200-95923400	Weak transcription	Ovary	ovary

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