Variant report

Variant	rs73893250
Chromosome Location	chr3:194891530-194891531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194873010..194875732-chr3:194891236..194893361,2	K562	blood:
2	chr3:194891367..194893935-chr3:194901247..194904072,2	K562	blood:
3	chr3:194889145..194893112-chr3:194897042..194900780,5	K562	blood:
4	chr3:194888992..194890540-chr3:194891436..194894097,2	K562	blood:
5	chr3:194889056..194891595-chr3:194894535..194896445,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58765064	0.94[AFR][1000 genomes]
rs73893248	0.92[AFR][1000 genomes]
rs73893249	0.94[AFR][1000 genomes]
rs7652775	1.00[AMR][1000 genomes]
rs938710	1.00[AMR][1000 genomes]
rs9856249	1.00[AMR][1000 genomes]
rs9880310	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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
7	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
8	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
9	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
10	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
11	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194862400-194897800	Weak transcription	Dnd41	blood
2	chr3:194876600-194893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:194876800-194893800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
5	chr3:194881600-194892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:194881600-194893000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:194881600-194903000	Weak transcription	HSMM	muscle
8	chr3:194881800-194892800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:194881800-194893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:194881800-194893000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:194882000-194891800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:194883200-194891800	Weak transcription	Right Atrium	heart
14	chr3:194883400-194899200	Weak transcription	Brain Angular Gyrus	brain
15	chr3:194883800-194893200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:194884200-194902400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:194884400-194901000	Weak transcription	Primary T cells from cord blood	blood
18	chr3:194884600-194891800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:194884600-194893000	Weak transcription	Fetal Thymus	thymus
20	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
21	chr3:194885200-194902400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr3:194885400-194892600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:194885400-194906600	Weak transcription	Gastric	stomach
24	chr3:194885600-194900600	Weak transcription	Ovary	ovary
25	chr3:194886400-194900400	Weak transcription	Primary B cells from cord blood	blood
26	chr3:194886600-194891800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:194886800-194896400	Weak transcription	Pancreas	Pancrea
28	chr3:194887000-194891600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:194887000-194895800	Weak transcription	Fetal Intestine Small	intestine
30	chr3:194887400-194892400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:194888000-194891600	Weak transcription	K562	blood
32	chr3:194889800-194900200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:194890000-194892200	Weak transcription	NHEK	skin
34	chr3:194890000-194892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:194890000-194893000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:194890000-194902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:194890200-194891600	Weak transcription	Esophagus	oesophagus
38	chr3:194890200-194895000	Weak transcription	Brain Germinal Matrix	brain
39	chr3:194890200-194896200	Weak transcription	HepG2	liver
40	chr3:194890800-194892400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:194890800-194894000	Enhancers	Fetal Brain Male	brain
42	chr3:194891000-194891600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:194891000-194892000	Enhancers	Fetal Stomach	stomach
44	chr3:194891000-194893600	Enhancers	Colon Smooth Muscle	Colon
45	chr3:194891000-194895200	Enhancers	Fetal Heart	heart
46	chr3:194891000-194895200	Enhancers	HUVEC	blood vessel
47	chr3:194891200-194891600	Weak transcription	Right Ventricle	heart
48	chr3:194891200-194891600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:194891200-194893000	Enhancers	Rectal Smooth Muscle	rectum
50	chr3:194891200-194893000	Enhancers	NHLF	lung

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