Variant report

Variant	rs57363441
Chromosome Location	chr3:194960006-194960007
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3732717	1.00[ASN][1000 genomes]
rs58048006	1.00[ASN][1000 genomes]
rs58352841	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61422283	1.00[ASN][1000 genomes]
rs66510151	0.88[AFR][1000 genomes]
rs67484513	0.86[AFR][1000 genomes]
rs73067087	1.00[ASN][1000 genomes]
rs73067099	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73069004	1.00[ASN][1000 genomes]
rs73069007	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73069010	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
17	nsv984539	chr3:194945800-194984579	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194945400-194971600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:194946000-194971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:194947600-194962200	Weak transcription	Hela-S3	cervix
4	chr3:194947800-194961200	Weak transcription	Gastric	stomach
5	chr3:194955000-194973200	Weak transcription	NH-A	brain
6	chr3:194956400-194966800	Weak transcription	HSMM	muscle
7	chr3:194956600-194972800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:194957200-194971800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:194957200-194972800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:194957400-194979800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:194957600-194975400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:194958000-194960800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:194958000-194966600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:194958200-194964000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:194958200-194964600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:194958200-194966200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:194958200-194966200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:194958200-194966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:194958200-194967000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:194958200-194967000	Weak transcription	Dnd41	blood
21	chr3:194958200-194967600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:194958400-194966200	Weak transcription	HepG2	liver
23	chr3:194958400-194979400	Weak transcription	K562	blood
24	chr3:194958600-194961200	Enhancers	Fetal Stomach	stomach
25	chr3:194958600-194970200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:194958800-194960200	Enhancers	Fetal Thymus	thymus
27	chr3:194958800-194960400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:194958800-194960400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:194958800-194960400	Enhancers	Fetal Muscle Trunk	muscle
30	chr3:194958800-194960800	Enhancers	Fetal Brain Male	brain
31	chr3:194958800-194961000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr3:194958800-194961200	Enhancers	Colon Smooth Muscle	Colon
33	chr3:194958800-194961400	Enhancers	Fetal Muscle Leg	muscle
34	chr3:194958800-194961600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:194958800-194964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:194958800-194971600	Weak transcription	Thymus	Thymus
37	chr3:194959000-194960200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:194959000-194960200	Enhancers	Fetal Intestine Large	intestine
39	chr3:194959000-194960400	Enhancers	Primary T cells from cord blood	blood
40	chr3:194959000-194960400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:194959000-194960400	Enhancers	Ovary	ovary
42	chr3:194959000-194960400	Enhancers	Right Atrium	heart
43	chr3:194959000-194960400	Enhancers	Right Ventricle	heart
44	chr3:194959000-194961600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:194959000-194961600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr3:194959000-194961800	Enhancers	Lung	lung
47	chr3:194959000-194961800	Enhancers	NHDF-Ad	bronchial
48	chr3:194959000-194962000	Enhancers	Left Ventricle	heart
49	chr3:194959000-194962000	Enhancers	Spleen	Spleen
50	chr3:194959200-194960200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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