Variant report

Variant	rs73893249
Chromosome Location	chr3:194890402-194890403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194866970..194869802-chr3:194888463..194890694,2	K562	blood:
2	chr3:194888992..194890540-chr3:194891436..194894097,2	K562	blood:
3	chr3:194889145..194893112-chr3:194897042..194900780,5	K562	blood:
4	chr3:194887067..194891173-chr3:194891509..194897118,9	K562	blood:
5	chr3:194889056..194891595-chr3:194894535..194896445,2	MCF-7	breast:
6	chr3:194849005..194851034-chr3:194888966..194890875,2	K562	blood:

Variant related genes	Relation type
ENSG00000230266	Chromatin interaction
ENSG00000173950	Chromatin interaction
ENSG00000244314	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58765064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893250	0.94[AFR][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:53 , 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	chr3:194877200-194891200	Weak transcription	Psoas Muscle	Psoas
5	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
6	chr3:194881600-194892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:194881600-194893000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:194881600-194903000	Weak transcription	HSMM	muscle
9	chr3:194881800-194891000	Weak transcription	Right Ventricle	heart
10	chr3:194881800-194892800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:194881800-194893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:194881800-194893000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:194882000-194891800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:194883200-194891400	Weak transcription	Left Ventricle	heart
16	chr3:194883200-194891800	Weak transcription	Right Atrium	heart
17	chr3:194883400-194891000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:194883400-194899200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:194883800-194893200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:194884200-194902400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:194884400-194901000	Weak transcription	Primary T cells from cord blood	blood
22	chr3:194884600-194891000	Weak transcription	Fetal Heart	heart
23	chr3:194884600-194891800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:194884600-194893000	Weak transcription	Fetal Thymus	thymus
25	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
26	chr3:194885200-194902400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:194885400-194891200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:194885400-194891400	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:194885400-194891400	Weak transcription	Lung	lung
30	chr3:194885400-194892600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:194885400-194906600	Weak transcription	Gastric	stomach
32	chr3:194885600-194900600	Weak transcription	Ovary	ovary
33	chr3:194886400-194900400	Weak transcription	Primary B cells from cord blood	blood
34	chr3:194886600-194891800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:194886800-194891400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr3:194886800-194896400	Weak transcription	Pancreas	Pancrea
37	chr3:194887000-194891600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:194887000-194895800	Weak transcription	Fetal Intestine Small	intestine
39	chr3:194887200-194891200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:194887400-194891000	Weak transcription	HUVEC	blood vessel
41	chr3:194887400-194892400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:194888000-194891600	Weak transcription	K562	blood
43	chr3:194888600-194891400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:194889800-194891400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:194889800-194900200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:194890000-194892200	Weak transcription	NHEK	skin
47	chr3:194890000-194892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:194890000-194893000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:194890000-194902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:194890200-194891600	Weak transcription	Esophagus	oesophagus

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