Variant report

Variant	rs6780521
Chromosome Location	chr3:195018324-195018325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11920942	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921077	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11925865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194992600-195090000	Weak transcription	Aorta	Aorta
2	chr3:194992800-195039800	Weak transcription	Fetal Brain Male	brain
3	chr3:194992800-195039800	Weak transcription	Right Ventricle	heart
4	chr3:194993000-195020800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:194993000-195021400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:194993000-195038600	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:194993000-195039200	Weak transcription	Brain Germinal Matrix	brain
8	chr3:194993000-195039600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:194993000-195050400	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:194993000-195076000	Weak transcription	Fetal Heart	heart
11	chr3:194995000-195039800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:194995400-195040000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:194996200-195032200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:194996400-195033800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:194997200-195027400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:194999200-195029400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:195002200-195028200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr3:195002600-195024000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:195002600-195024800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:195002600-195027400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:195003400-195020000	Strong transcription	Primary B cells from cord blood	blood
22	chr3:195003600-195028600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:195003800-195018800	Strong transcription	Dnd41	blood
24	chr3:195004000-195039600	Weak transcription	Pancreas	Pancrea
25	chr3:195004000-195066600	Weak transcription	Small Intestine	intestine
26	chr3:195004200-195039600	Weak transcription	Gastric	stomach
27	chr3:195004400-195021200	Weak transcription	Psoas Muscle	Psoas
28	chr3:195004600-195018800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:195004800-195019000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:195005200-195039600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:195005600-195022800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:195007400-195020000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:195007800-195029600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:195008000-195021400	Weak transcription	HSMMtube	muscle
35	chr3:195008000-195024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:195008000-195025400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:195008000-195039800	Weak transcription	NH-A	brain
38	chr3:195009200-195025400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:195009400-195021400	Weak transcription	Colonic Mucosa	Colon
40	chr3:195009600-195023800	Weak transcription	Esophagus	oesophagus
41	chr3:195010000-195021000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:195010000-195021200	Weak transcription	Fetal Brain Female	brain
43	chr3:195010000-195021400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:195010000-195021400	Weak transcription	Left Ventricle	heart
45	chr3:195010000-195021400	Weak transcription	HepG2	liver
46	chr3:195010000-195021600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:195010000-195021600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:195010000-195022000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:195010000-195039000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:195010000-195039600	Weak transcription	Placenta Amnion	Placenta Amnion

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