Variant report

Variant	rs60999733
Chromosome Location	chr3:194947937-194947938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194939806..194942254-chr3:194946145..194947970,2	MCF-7	breast:
2	chr3:194941162..194944048-chr3:194944539..194948128,3	K562	blood:
3	chr3:194826945..194827704-chr3:194947760..194948487,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11922694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11923931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11927247	0.94[AFR][1000 genomes]
rs11928199	0.94[AFR][1000 genomes]
rs12497906	0.92[AFR][1000 genomes]
rs12498063	0.80[AFR][1000 genomes]
rs2095968	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57602429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57844873	0.94[AFR][1000 genomes]
rs59314385	0.97[AFR][1000 genomes]
rs60382109	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6790425	0.83[AFR][1000 genomes]
rs7624032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7626520	0.84[AFR][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	chr3:194931200-194948800	Weak transcription	Fetal Intestine Large	intestine
2	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:194931800-194956600	Weak transcription	K562	blood
4	chr3:194939600-194948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:194940400-194948200	Weak transcription	Fetal Kidney	kidney
6	chr3:194940400-194949600	Weak transcription	Colonic Mucosa	Colon
7	chr3:194940600-194959000	Weak transcription	Right Ventricle	heart
8	chr3:194942200-194952400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:194942600-194948400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:194943000-194948000	Weak transcription	Pancreas	Pancrea
11	chr3:194943000-194948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:194943000-194951000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:194943200-194948000	Weak transcription	GM12878-XiMat	blood
14	chr3:194944000-194948000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:194944600-194949400	Weak transcription	NHEK	skin
16	chr3:194944600-194959000	Weak transcription	Ovary	ovary
17	chr3:194945000-194949800	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:194945200-194948000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:194945200-194948000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:194945200-194948400	Strong transcription	Fetal Brain Female	brain
21	chr3:194945200-194949200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:194945200-194957200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:194945200-194958800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:194945200-194959200	Weak transcription	NHLF	lung
25	chr3:194945400-194949200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:194945400-194954000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:194945400-194958800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:194945400-194959200	Weak transcription	Osteobl	bone
29	chr3:194945400-194971600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:194945600-194948000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:194945600-194957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:194945600-194959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:194945800-194949400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:194946000-194957600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:194946000-194958800	Weak transcription	Aorta	Aorta
36	chr3:194946000-194958800	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:194946000-194959000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:194946000-194971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:194946200-194956600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:194946400-194957800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:194946800-194948200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:194947000-194948000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:194947000-194948600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:194947000-194959000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:194947200-194948000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:194947200-194948000	Genic enhancers	Lung	lung
47	chr3:194947200-194949000	Enhancers	Primary hematopoietic stem cells	blood
48	chr3:194947200-194956600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:194947400-194948000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:194947400-194948000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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