Variant report

Variant	rs11918729
Chromosome Location	chr3:194941433-194941434
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194939806..194942254-chr3:194946145..194947970,2	MCF-7	breast:
2	chr3:194941162..194944048-chr3:194944539..194948128,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11916733	0.95[AFR][1000 genomes]
rs11917903	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11926961	1.00[AMR][1000 genomes]
rs2095969	1.00[AMR][1000 genomes]
rs56309159	1.00[AMR][1000 genomes]
rs56911559	1.00[AMR][1000 genomes]
rs57367947	1.00[AMR][1000 genomes]
rs58212573	1.00[AMR][1000 genomes]
rs58381246	1.00[AMR][1000 genomes]
rs60222890	1.00[AMR][1000 genomes]
rs60284665	1.00[AMR][1000 genomes]
rs60560609	1.00[AMR][1000 genomes]
rs60584652	1.00[AMR][1000 genomes]
rs6437461	1.00[AMR][1000 genomes]
rs6764918	1.00[AMR][1000 genomes]
rs6779124	1.00[AMR][1000 genomes]
rs6779129	1.00[AMR][1000 genomes]
rs6779217	1.00[AMR][1000 genomes]
rs6790118	1.00[AMR][1000 genomes]
rs6809102	1.00[AMR][1000 genomes]
rs73067069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067076	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890763	1.00[AMR][1000 genomes]
rs73890764	1.00[AMR][1000 genomes]
rs73890767	1.00[AMR][1000 genomes]
rs73890778	1.00[AMR][1000 genomes]
rs73890782	1.00[AMR][1000 genomes]
rs73890784	1.00[AMR][1000 genomes]
rs73890791	1.00[AMR][1000 genomes]
rs73890793	1.00[AMR][1000 genomes]
rs73893622	1.00[AMR][1000 genomes]
rs73893623	1.00[AMR][1000 genomes]
rs73893628	1.00[AMR][1000 genomes]
rs7634880	0.90[LWK][hapmap]
rs7649610	1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194918800-194945000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:194919400-194945200	Weak transcription	Thymus	Thymus
3	chr3:194921000-194941600	Weak transcription	Primary T cells from cord blood	blood
4	chr3:194926400-194942600	Weak transcription	Small Intestine	intestine
5	chr3:194926400-194947600	Weak transcription	Gastric	stomach
6	chr3:194926600-194942800	Weak transcription	Hela-S3	cervix
7	chr3:194929800-194947400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:194931200-194942000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:194931200-194948800	Weak transcription	Fetal Intestine Large	intestine
10	chr3:194931400-194942000	Weak transcription	Brain Anterior Caudate	brain
11	chr3:194931400-194945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:194931600-194942000	Weak transcription	Brain Substantia Nigra	brain
13	chr3:194931600-194946600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:194931800-194941600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr3:194931800-194941800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:194931800-194942000	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:194931800-194944200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:194931800-194945200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr3:194931800-194956600	Weak transcription	K562	blood
21	chr3:194932400-194944000	Weak transcription	HSMM	muscle
22	chr3:194932600-194942000	Weak transcription	NHDF-Ad	bronchial
23	chr3:194932600-194944000	Weak transcription	NHLF	lung
24	chr3:194935000-194943800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:194935000-194944000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:194935600-194941600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:194935600-194941800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:194935600-194945200	Weak transcription	Fetal Brain Female	brain
29	chr3:194938800-194942000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:194939200-194947600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:194939400-194942800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:194939600-194948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:194939800-194942200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:194940000-194942400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:194940000-194942600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:194940000-194943000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:194940200-194942000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:194940200-194942400	Enhancers	Fetal Stomach	stomach
39	chr3:194940200-194943000	Enhancers	Fetal Lung	lung
40	chr3:194940200-194943000	Enhancers	Fetal Muscle Trunk	muscle
41	chr3:194940200-194943200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:194940200-194943400	Enhancers	Ovary	ovary
43	chr3:194940200-194943400	Enhancers	Spleen	Spleen
44	chr3:194940200-194944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:194940200-194946000	Enhancers	Placenta	Placenta
46	chr3:194940400-194941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:194940400-194941800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:194940400-194942000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:194940400-194942000	Weak transcription	Fetal Heart	heart
50	chr3:194940400-194942000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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