Variant report

Variant	rs3748144
Chromosome Location	chr8:8655023-8655024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10046783	0.89[CHB][hapmap];0.88[CHD][hapmap]
rs10046784	0.89[CHB][hapmap];0.88[CHD][hapmap]
rs10112559	0.81[AMR][1000 genomes]
rs1039913	0.93[EUR][1000 genomes]
rs1039914	0.93[EUR][1000 genomes]
rs10903311	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11779585	0.93[EUR][1000 genomes]
rs11783966	0.82[MKK][hapmap];0.95[YRI][hapmap]
rs11995244	0.81[CHD][hapmap]
rs13265731	0.90[YRI][hapmap]
rs13282015	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510932	0.81[CHD][hapmap]
rs1876836	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.93[EUR][1000 genomes]
rs2175161	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2271340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2271341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2409088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2409089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2409090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2409094	0.90[EUR][1000 genomes]
rs2409095	0.88[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs28755903	0.93[EUR][1000 genomes]
rs35834644	0.80[EUR][1000 genomes]
rs3827809	0.94[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs4840364	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4841038	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs4841041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4841044	0.82[MKK][hapmap];0.95[YRI][hapmap]
rs4841049	0.93[EUR][1000 genomes]
rs4841050	0.93[EUR][1000 genomes]
rs4841058	0.88[CHD][hapmap]
rs55777707	0.83[AMR][1000 genomes]
rs565169	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs6601732	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993494	0.90[YRI][hapmap]
rs7006589	0.90[YRI][hapmap]
rs7015271	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs907179	0.94[EUR][1000 genomes]
rs9329169	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh 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	9 gene(s)	inside rSNPs	diseases
8	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv1795023	chr8:8583943-8655580	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	esv1825234	chr8:8583943-8655580	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv610189	chr8:8590437-8664940	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3748144	FLJ10661	cis	cerebellum	SCAN
rs3748144	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:8640200-8655600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:8642800-8660000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:8644200-8655600	Weak transcription	Fetal Brain Male	brain
5	chr8:8646600-8658000	Weak transcription	Pancreas	Pancrea
6	chr8:8648600-8658000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:8649200-8657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:8649200-8657200	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:8649200-8657800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:8649200-8666400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:8649400-8657800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:8649400-8661800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:8649400-8663600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:8649400-8663800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:8649600-8657800	Weak transcription	Stomach Mucosa	stomach
16	chr8:8650600-8656000	Strong transcription	Dnd41	blood
17	chr8:8650800-8663400	Weak transcription	Hela-S3	cervix
18	chr8:8651000-8655200	Strong transcription	Fetal Stomach	stomach
19	chr8:8651000-8655400	Strong transcription	Fetal Intestine Small	intestine
20	chr8:8651200-8656200	Weak transcription	Esophagus	oesophagus
21	chr8:8651200-8657800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:8651400-8655200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:8651600-8658000	Weak transcription	Aorta	Aorta
24	chr8:8651800-8655200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:8651800-8657800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:8652200-8655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:8652400-8655200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:8652400-8655400	Weak transcription	A549	lung
29	chr8:8652600-8659200	Weak transcription	Ovary	ovary
30	chr8:8653800-8655400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:8653800-8656800	Weak transcription	NHEK	skin
32	chr8:8653800-8657000	Weak transcription	Fetal Heart	heart
33	chr8:8653800-8657200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:8653800-8657200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:8653800-8657400	Weak transcription	Liver	Liver
36	chr8:8653800-8657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:8653800-8657400	Weak transcription	Lung	lung
38	chr8:8653800-8657800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:8653800-8662000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:8653800-8662600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:8653800-8663400	Weak transcription	HMEC	breast
42	chr8:8653800-8674800	Weak transcription	Brain Germinal Matrix	brain
43	chr8:8654000-8655200	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:8654000-8657000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:8654000-8657200	Weak transcription	Gastric	stomach
46	chr8:8654000-8657600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:8654000-8657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:8654000-8658000	Weak transcription	Fetal Intestine Large	intestine
49	chr8:8654000-8659400	Weak transcription	HepG2	liver
50	chr8:8654000-8663600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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