Variant report

Variant	rs73830473
Chromosome Location	chr3:48711199-48711200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48695950..48699824-chr3:48710158..48713070,3	K562	blood:
2	chr3:48709842..48711551-chr3:48717118..48719830,2	MCF-7	breast:
3	chr3:48710449..48713681-chr3:48721332..48723160,4	K562	blood:
4	chr3:48698129..48704726-chr3:48706101..48715056,13	MCF-7	breast:
5	chr3:48710939..48712663-chr3:48716342..48718806,2	K562	blood:
6	chr3:48708844..48711305-chr3:48727090..48731325,3	K562	blood:

Variant related genes	Relation type
ENSG00000008300	Chromatin interaction
ENSG00000213672	Chromatin interaction
ENSG00000068745	Chromatin interaction
ENSG00000228350	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57555186	1.00[AMR][1000 genomes]
rs60636203	1.00[AMR][1000 genomes]
rs73830470	1.00[AMR][1000 genomes]
rs73830472	1.00[AMR][1000 genomes]
rs73830477	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 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	chr3:48701200-48721000	Weak transcription	Fetal Brain Male	brain
2	chr3:48701600-48711400	Weak transcription	Aorta	Aorta
3	chr3:48701600-48715400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:48701600-48716800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:48701600-48718000	Weak transcription	NHDF-Ad	bronchial
6	chr3:48701600-48720800	Weak transcription	Right Atrium	heart
7	chr3:48701600-48720800	Weak transcription	HUVEC	blood vessel
8	chr3:48701800-48711200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:48701800-48711400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:48701800-48711400	Weak transcription	Esophagus	oesophagus
11	chr3:48701800-48711600	Weak transcription	Dnd41	blood
12	chr3:48701800-48712400	Weak transcription	Fetal Thymus	thymus
13	chr3:48701800-48713400	Weak transcription	Pancreas	Pancrea
14	chr3:48701800-48714800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:48701800-48715200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:48701800-48715200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:48701800-48715600	Weak transcription	NH-A	brain
18	chr3:48701800-48715800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:48701800-48715800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:48701800-48716800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:48701800-48721400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:48702000-48711200	Weak transcription	HMEC	breast
23	chr3:48702000-48711400	Weak transcription	Brain Angular Gyrus	brain
24	chr3:48702000-48711400	Weak transcription	Placenta	Placenta
25	chr3:48702000-48711400	Weak transcription	GM12878-XiMat	blood
26	chr3:48702000-48712000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:48702000-48712000	Weak transcription	Thymus	Thymus
28	chr3:48702000-48712000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr3:48702000-48712200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:48702000-48712400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:48702000-48712400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:48702000-48716800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:48702000-48716800	Weak transcription	HSMMtube	muscle
34	chr3:48702000-48721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:48702200-48711400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:48702200-48712000	Weak transcription	HepG2	liver
37	chr3:48702200-48717000	Weak transcription	K562	blood
38	chr3:48702600-48711600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:48702600-48715000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:48702800-48711400	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:48702800-48714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:48702800-48717000	Weak transcription	Fetal Heart	heart
43	chr3:48703200-48711400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:48703200-48711400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:48703200-48711800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:48703200-48715200	Weak transcription	Stomach Mucosa	stomach
47	chr3:48703400-48715600	Weak transcription	Fetal Lung	lung
48	chr3:48703600-48715600	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:48704400-48716000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:48705800-48720600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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