Variant report

Variant	rs9863220
Chromosome Location	chr3:48070582-48070583
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	chr3:48068743..48070956-chr3:48072817..48074815,2	K562	blood:
2	chr3:48067946..48070956-chr3:48070996..48074815,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1060407	1.00[YRI][hapmap]
rs11130161	1.00[YRI][hapmap]
rs11707679	1.00[YRI][hapmap]
rs1486916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2351249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593817	1.00[AMR][1000 genomes]
rs319683	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs319693	1.00[YRI][hapmap]
rs34675858	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731532	1.00[YRI][hapmap]
rs3731539	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731547	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs55808934	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442093	0.83[AFR][1000 genomes]
rs6442101	0.89[YRI][hapmap]
rs6442103	1.00[EUR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs6803741	1.00[YRI][hapmap]
rs7372108	1.00[AMR][1000 genomes]
rs73831540	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825114	1.00[YRI][hapmap]
rs9917799	1.00[AMR][1000 genomes];1.00[EUR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48043800-48075200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:48043800-48075200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:48051200-48128000	Weak transcription	Primary B cells from cord blood	blood
4	chr3:48053600-48075200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:48055600-48075200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:48056200-48076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:48058400-48082400	Weak transcription	Spleen	Spleen
8	chr3:48058800-48075600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:48058800-48080600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:48059200-48080600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:48059400-48075200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:48059600-48128800	Weak transcription	Primary T cells from cord blood	blood
13	chr3:48059800-48090800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:48059800-48093600	Weak transcription	Gastric	stomach
15	chr3:48060000-48075400	Weak transcription	Hela-S3	cervix
16	chr3:48060800-48088800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:48060800-48089400	Weak transcription	Dnd41	blood
18	chr3:48062000-48073200	Weak transcription	K562	blood
19	chr3:48062400-48074800	Weak transcription	HSMM	muscle
20	chr3:48063800-48073200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:48064400-48071800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:48064400-48128800	Weak transcription	Esophagus	oesophagus
23	chr3:48064600-48074800	Weak transcription	GM12878-XiMat	blood
24	chr3:48065000-48074600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:48065200-48074600	Weak transcription	Adipose Nuclei	Adipose
26	chr3:48065200-48075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:48065200-48080600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:48065400-48074600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:48065400-48075200	Weak transcription	HSMMtube	muscle
30	chr3:48066600-48071800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:48066600-48074200	Weak transcription	NHDF-Ad	bronchial
32	chr3:48067200-48075200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:48068000-48077600	Weak transcription	Fetal Lung	lung
34	chr3:48068800-48074800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:48069000-48072600	Weak transcription	Stomach Mucosa	stomach
36	chr3:48069000-48073200	Weak transcription	Brain Angular Gyrus	brain
37	chr3:48069000-48073200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:48069000-48073200	Weak transcription	Brain Substantia Nigra	brain
39	chr3:48069000-48074200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:48069000-48074600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:48069000-48074600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:48069000-48075000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:48069000-48075200	Weak transcription	Pancreas	Pancrea
44	chr3:48069000-48080800	Weak transcription	Fetal Kidney	kidney
45	chr3:48069200-48071200	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:48069200-48072600	Weak transcription	Fetal Stomach	stomach
47	chr3:48069200-48072600	Weak transcription	Lung	lung
48	chr3:48069200-48074200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:48069200-48074200	Weak transcription	A549	lung
50	chr3:48069200-48074400	Weak transcription	Brain Anterior Caudate	brain

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