Variant report

Variant	rs58048006
Chromosome Location	chr3:194949084-194949085
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194942662..194945263-chr3:194948423..194950004,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3732717	1.00[ASN][1000 genomes]
rs57363441	1.00[ASN][1000 genomes]
rs58352841	1.00[ASN][1000 genomes]
rs61422283	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73067087	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73067099	1.00[ASN][1000 genomes]
rs73069004	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73069007	1.00[ASN][1000 genomes]
rs73069010	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:194931800-194956600	Weak transcription	K562	blood
3	chr3:194940400-194949600	Weak transcription	Colonic Mucosa	Colon
4	chr3:194940600-194959000	Weak transcription	Right Ventricle	heart
5	chr3:194942200-194952400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:194943000-194951000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:194944600-194949400	Weak transcription	NHEK	skin
8	chr3:194944600-194959000	Weak transcription	Ovary	ovary
9	chr3:194945000-194949800	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:194945200-194949200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:194945200-194957200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:194945200-194958800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:194945200-194959200	Weak transcription	NHLF	lung
14	chr3:194945400-194949200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:194945400-194954000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:194945400-194958800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:194945400-194959200	Weak transcription	Osteobl	bone
18	chr3:194945400-194971600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:194945600-194957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:194945600-194959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:194945800-194949400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:194946000-194957600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:194946000-194958800	Weak transcription	Aorta	Aorta
24	chr3:194946000-194958800	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:194946000-194959000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:194946000-194971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:194946200-194956600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:194946400-194957800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:194947000-194959000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:194947200-194956600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:194947400-194949400	Enhancers	Placenta	Placenta
32	chr3:194947600-194949200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:194947600-194949600	Weak transcription	Brain Anterior Caudate	brain
34	chr3:194947600-194950200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:194947600-194950600	Weak transcription	Brain Germinal Matrix	brain
36	chr3:194947600-194955800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:194947600-194956800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:194947600-194957000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr3:194947600-194957400	Weak transcription	Dnd41	blood
40	chr3:194947600-194957600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:194947600-194957600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:194947600-194957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:194947600-194962200	Weak transcription	Hela-S3	cervix
44	chr3:194947800-194949200	Enhancers	Esophagus	oesophagus
45	chr3:194947800-194950200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:194947800-194950400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:194947800-194955200	Weak transcription	Adipose Nuclei	Adipose
48	chr3:194947800-194956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:194947800-194957000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr3:194947800-194957000	Weak transcription	Fetal Stomach	stomach

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