Variant report

Variant	rs73830458
Chromosome Location	chr3:45761411-45761412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45747455..45751569-chr3:45759226..45763149,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28401433	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34458611	0.87[AMR][1000 genomes]
rs58213273	0.85[AMR][1000 genomes]
rs61603235	1.00[AMR][1000 genomes]
rs6778381	0.85[AMR][1000 genomes]
rs6780893	0.85[AMR][1000 genomes]
rs6786791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6794096	0.87[AMR][1000 genomes]
rs72882544	0.85[AMR][1000 genomes]
rs73830459	0.87[AMR][1000 genomes]
rs9811206	1.00[AMR][1000 genomes]
rs9823820	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9827350	0.85[AMR][1000 genomes]
rs9850601	0.85[AMR][1000 genomes]
rs9861547	0.87[AMR][1000 genomes]
rs9873753	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34130	chr3:45609075-45796657	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45732400-45763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:45732400-45772000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:45733000-45777800	Weak transcription	Colonic Mucosa	Colon
4	chr3:45734200-45778000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:45735200-45772000	Weak transcription	Small Intestine	intestine
6	chr3:45741600-45790000	Strong transcription	Fetal Thymus	thymus
7	chr3:45743400-45772000	Weak transcription	Psoas Muscle	Psoas
8	chr3:45744200-45763800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:45744600-45767000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:45744800-45765800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:45744800-45767800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:45744800-45768400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:45745000-45764200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:45745000-45767400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:45745000-45782600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr3:45745200-45767400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:45745400-45766000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:45746600-45763400	Weak transcription	Hela-S3	cervix
19	chr3:45747800-45761600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:45748200-45776000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:45753000-45763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:45753000-45776000	Weak transcription	Esophagus	oesophagus
23	chr3:45753200-45763800	Weak transcription	Right Ventricle	heart
24	chr3:45753200-45778000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:45753400-45763600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:45753800-45767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:45754200-45765400	Weak transcription	Ovary	ovary
28	chr3:45754200-45790000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:45754600-45780400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:45754800-45779200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:45755200-45763400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:45755200-45763400	Weak transcription	HUVEC	blood vessel
33	chr3:45755200-45763600	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:45755200-45764400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:45755200-45771800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:45755400-45763600	Weak transcription	HepG2	liver
37	chr3:45755400-45763800	Weak transcription	Brain Anterior Caudate	brain
38	chr3:45755600-45763400	Weak transcription	HMEC	breast
39	chr3:45756600-45763800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:45756600-45765400	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:45756800-45764600	Weak transcription	Fetal Brain Female	brain
42	chr3:45757000-45763600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:45757200-45763800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr3:45757200-45777400	Weak transcription	Gastric	stomach
45	chr3:45757600-45762800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:45757600-45763600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:45757800-45763400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:45757800-45765400	Weak transcription	Brain Angular Gyrus	brain
49	chr3:45758000-45762000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:45758000-45763800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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