Variant report

Variant	rs17498376
Chromosome Location	chr3:48062789-48062790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48058679..48060813-chr3:48062111..48064582,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11918619	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs11926049	0.89[AMR][1000 genomes]
rs17079910	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes]
rs17290686	0.84[AMR][1000 genomes]
rs2306794	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3772398	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4364189	0.82[AMR][1000 genomes]
rs4858867	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4858869	0.89[AMR][1000 genomes]
rs4858870	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4858883	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7431111	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	esv3335628	chr3:48010796-48074001	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48027200-48063600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:48043800-48075200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:48043800-48075200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:48051200-48128000	Weak transcription	Primary B cells from cord blood	blood
5	chr3:48051600-48065000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:48053600-48075200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:48055600-48075200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:48056200-48064200	Weak transcription	Esophagus	oesophagus
9	chr3:48056200-48076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:48057800-48065000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:48058000-48063400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:48058000-48063600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:48058000-48063600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:48058000-48063600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:48058000-48064800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:48058000-48065000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:48058200-48063600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:48058200-48064600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:48058400-48063600	Weak transcription	Brain Substantia Nigra	brain
20	chr3:48058400-48064200	Weak transcription	Adipose Nuclei	Adipose
21	chr3:48058400-48064600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:48058400-48067600	Weak transcription	Fetal Lung	lung
23	chr3:48058400-48082400	Weak transcription	Spleen	Spleen
24	chr3:48058600-48063400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:48058600-48064400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:48058600-48064400	Weak transcription	Brain Angular Gyrus	brain
27	chr3:48058800-48063600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:48058800-48064000	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:48058800-48068400	Weak transcription	Small Intestine	intestine
30	chr3:48058800-48075600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:48058800-48080600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:48059000-48064400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:48059200-48064600	Weak transcription	Fetal Kidney	kidney
34	chr3:48059200-48065000	Weak transcription	Aorta	Aorta
35	chr3:48059200-48080600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:48059400-48063600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:48059400-48064400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:48059400-48075200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:48059600-48128800	Weak transcription	Primary T cells from cord blood	blood
40	chr3:48059800-48063600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:48059800-48064600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:48059800-48066800	Weak transcription	Lung	lung
43	chr3:48059800-48068400	Weak transcription	Right Ventricle	heart
44	chr3:48059800-48068800	Weak transcription	Right Atrium	heart
45	chr3:48059800-48090800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:48059800-48093600	Weak transcription	Gastric	stomach
47	chr3:48060000-48068400	Weak transcription	Liver	Liver
48	chr3:48060000-48075400	Weak transcription	Hela-S3	cervix
49	chr3:48060200-48064600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:48060600-48064600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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