Variant report

Variant	rs73071930
Chromosome Location	chr3:46602230-46602231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46599422..46601505-chr3:46601570..46603414,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDGF1-1	chr3:46602118-46602449	NONHSAT089448

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs2280408	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280409	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280413	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280414	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293021	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293022	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293023	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293024	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293025	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28617572	0.84[ASN][1000 genomes]
rs28687398	0.81[ASN][1000 genomes]
rs3189859	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3806704	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827493	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4312690	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649212	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55693118	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55736632	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55763532	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55923987	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55955974	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55957516	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56008703	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56048308	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56163098	0.81[AMR][1000 genomes]
rs56168669	0.81[AMR][1000 genomes]
rs56188400	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56197743	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56394040	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56398705	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56695799	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58177689	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58551379	0.81[AMR][1000 genomes]
rs58572135	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59673973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59836693	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73069984	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73069987	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73069989	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73069992	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73069996	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73069997	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73071917	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071919	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071938	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73072002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073704	0.81[ASN][1000 genomes]
rs73073732	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073734	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073742	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073744	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073745	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073746	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073750	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073752	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073753	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073754	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73073755	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73075515	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73075519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075524	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075528	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075564	0.92[AMR][1000 genomes]
rs73075571	0.92[AMR][1000 genomes]
rs73077539	0.81[AMR][1000 genomes]
rs73077544	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46591800-46606600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:46600200-46602600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:46600200-46603000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:46600400-46602600	Weak transcription	Psoas Muscle	Psoas
5	chr3:46600400-46602800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:46600400-46603200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:46600400-46606600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:46600400-46607200	Weak transcription	Gastric	stomach
9	chr3:46600600-46602600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:46600600-46603200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:46600600-46606600	Weak transcription	Thymus	Thymus
12	chr3:46600600-46606800	Weak transcription	Ovary	ovary
13	chr3:46600800-46602400	Weak transcription	Fetal Heart	heart
14	chr3:46600800-46603400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:46600800-46603600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:46601000-46603600	Weak transcription	Fetal Thymus	thymus
17	chr3:46601000-46606400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:46601000-46606600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:46601200-46603600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:46601200-46606000	Weak transcription	Primary T cells from cord blood	blood
21	chr3:46601200-46607200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:46601400-46603600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:46601400-46604000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:46601600-46602400	Enhancers	Right Atrium	heart
25	chr3:46601600-46602400	Enhancers	Right Ventricle	heart
26	chr3:46601600-46603600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:46601600-46605600	Weak transcription	NHDF-Ad	bronchial
28	chr3:46601800-46603600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:46601800-46605200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:46602000-46603200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:46602000-46603400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:46602000-46606000	Enhancers	Left Ventricle	heart
33	chr3:46602000-46607000	Weak transcription	Liver	Liver
34	chr3:46602200-46602400	Enhancers	Lung	lung
35	chr3:46602200-46602800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:46602200-46602800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:46602200-46602800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:46602200-46603400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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