Variant report

Variant	rs6786493
Chromosome Location	chr3:194791883-194791884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194789447..194796347-chr3:194796697..194800807,6	K562	blood:
2	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
3	chr3:194783239..194785718-chr3:194791860..194793438,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11915854	0.96[ASN][1000 genomes]
rs11928471	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1389725	0.96[ASN][1000 genomes]
rs57046126	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58090749	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58495088	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58646838	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60994526	0.96[ASN][1000 genomes]
rs6774906	0.96[ASN][1000 genomes]
rs73056504	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73056512	0.94[ASN][1000 genomes]
rs73074258	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	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
6	esv1813153	chr3:194754532-194851746	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1847174	chr3:194763601-194792415	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878136	chr3:194779412-194845226	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1848714	chr3:194785443-194792415	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
3	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
4	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:194785200-194796600	Weak transcription	NHLF	lung
8	chr3:194785400-194793400	Weak transcription	Left Ventricle	heart
9	chr3:194785400-194799200	Weak transcription	Pancreas	Pancrea
10	chr3:194785600-194792400	Weak transcription	Right Ventricle	heart
11	chr3:194785600-194801400	Weak transcription	Fetal Lung	lung
12	chr3:194785600-194801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:194785600-194802000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:194786000-194796600	Weak transcription	Primary B cells from cord blood	blood
15	chr3:194786000-194800400	Weak transcription	GM12878-XiMat	blood
16	chr3:194787200-194800000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:194787400-194793800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:194787400-194795200	Strong transcription	Fetal Stomach	stomach
19	chr3:194787600-194792600	Weak transcription	Brain Angular Gyrus	brain
20	chr3:194787600-194801000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:194787800-194792200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:194787800-194794000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr3:194788600-194794000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:194789000-194796800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:194789400-194793400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:194789600-194793400	Strong transcription	Spleen	Spleen
27	chr3:194789800-194792400	Weak transcription	NHEK	skin
28	chr3:194789800-194800000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:194790000-194793600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:194790400-194792000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:194790400-194792200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:194790400-194796400	Weak transcription	Ovary	ovary
33	chr3:194790400-194808000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:194790600-194792000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:194790600-194792000	Enhancers	Stomach Mucosa	stomach
36	chr3:194790600-194792200	Weak transcription	Primary T cells from cord blood	blood
37	chr3:194790600-194792400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:194790600-194792400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:194790600-194792400	Weak transcription	Fetal Thymus	thymus
40	chr3:194790600-194792600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:194790600-194793000	Enhancers	Fetal Intestine Large	intestine
42	chr3:194790600-194793000	Genic enhancers	Fetal Intestine Small	intestine
43	chr3:194790600-194794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:194790600-194795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:194790600-194795400	Weak transcription	Thymus	Thymus
46	chr3:194790600-194796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:194790600-194796200	Weak transcription	Dnd41	blood
48	chr3:194790600-194796400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr3:194790600-194796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:194790600-194796600	Weak transcription	Monocytes-CD14+_RO01746	blood

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