Variant report

Variant	rs3796161
Chromosome Location	chr3:194930028-194930029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11918143	0.91[ASN][1000 genomes]
rs11919965	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs12486168	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs12486220	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs12486636	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs12486805	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs12486835	1.00[CHB][hapmap]
rs12488616	1.00[CHB][hapmap]
rs12488979	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs12489090	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs12490658	1.00[CHB][hapmap];0.80[MEX][hapmap]
rs12491026	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs12491371	1.00[CHB][hapmap]
rs12492552	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs12493888	0.81[ASN][1000 genomes]
rs12494759	1.00[CHB][hapmap]
rs12494773	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs12494820	0.88[CHB][hapmap]
rs12497444	0.91[ASN][1000 genomes]
rs12497478	1.00[CHB][hapmap]
rs12497906	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap]
rs2050807	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs56281422	0.82[AMR][1000 genomes]
rs60677730	0.86[ASN][1000 genomes]
rs67413252	0.91[ASN][1000 genomes]
rs6767801	1.00[CHB][hapmap]
rs6777904	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs6798243	1.00[CHB][hapmap]
rs6804467	1.00[CHB][hapmap]
rs72499624	0.81[ASN][1000 genomes]
rs72499625	0.82[AMR][1000 genomes]
rs755202	1.00[CHB][hapmap]
rs7642127	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs999331	1.00[CHB][hapmap];0.88[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS 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	73 gene(s)	inside rSNPs	diseases
12	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
18	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
20	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194917600-194930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:194917800-194930400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:194918800-194945000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:194919400-194945200	Weak transcription	Thymus	Thymus
5	chr3:194920000-194930800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:194921000-194941600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:194924600-194930200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:194924600-194930800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:194924600-194931800	Enhancers	Placenta	Placenta
10	chr3:194925600-194931000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:194925800-194930400	Weak transcription	Brain Angular Gyrus	brain
12	chr3:194925800-194930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:194926000-194930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:194926200-194930600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:194926200-194930800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:194926400-194930400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:194926400-194930600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:194926400-194930600	Weak transcription	Fetal Kidney	kidney
19	chr3:194926400-194930800	Weak transcription	Stomach Mucosa	stomach
20	chr3:194926400-194930800	Weak transcription	NHEK	skin
21	chr3:194926400-194931400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:194926400-194942600	Weak transcription	Small Intestine	intestine
23	chr3:194926400-194947600	Weak transcription	Gastric	stomach
24	chr3:194926600-194930200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:194926600-194930600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:194926600-194930600	Weak transcription	Fetal Brain Female	brain
27	chr3:194926600-194933400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:194926600-194942800	Weak transcription	Hela-S3	cervix
29	chr3:194927600-194931800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:194927800-194930400	Enhancers	Fetal Muscle Trunk	muscle
31	chr3:194927800-194931800	Enhancers	Fetal Thymus	thymus
32	chr3:194928200-194930200	Enhancers	Fetal Muscle Leg	muscle
33	chr3:194928200-194931200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:194928400-194930400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:194928400-194930400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:194928400-194930600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:194928400-194930800	Enhancers	NH-A	brain
38	chr3:194928400-194931000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:194928400-194931200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:194928400-194931800	Enhancers	Left Ventricle	heart
41	chr3:194928400-194932000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:194928400-194932000	Enhancers	Brain Germinal Matrix	brain
43	chr3:194928400-194932600	Enhancers	Ovary	ovary
44	chr3:194928400-194932600	Enhancers	NHLF	lung
45	chr3:194928600-194930200	Weak transcription	Fetal Intestine Small	intestine
46	chr3:194928600-194930400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:194928600-194930600	Enhancers	HepG2	liver
48	chr3:194928600-194930800	Enhancers	Fetal Lung	lung
49	chr3:194928600-194931200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:194928600-194931200	Enhancers	Spleen	Spleen

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