Variant report

Variant	rs13373780
Chromosome Location	chr1:46986673-46986674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46985914..46991197-chr1:46993744..46997835,5	K562	blood:
2	chr1:46916965..46919039-chr1:46986661..46989583,2	K562	blood:
3	chr1:46985009..46990560-chr1:46990823..46993646,5	K562	blood:
4	chr1:46919084..46921023-chr1:46985929..46988838,3	K562	blood:
5	chr1:46925530..46928308-chr1:46985086..46986885,2	K562	blood:
6	chr1:46950640..46959255-chr1:46986389..46991936,15	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11211298	0.97[ASN][1000 genomes]
rs1258028	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1258040	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1258042	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1258046	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1320556	1.00[EUR][1000 genomes]
rs17102252	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2486164	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2486165	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60242607	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60309634	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60791879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61011128	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61629467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61691256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660663	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72894674	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7515750	0.97[ASN][1000 genomes]
rs7518867	1.00[ASN][1000 genomes]
rs7525300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556404	0.97[ASN][1000 genomes]
rs942253	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1010578	chr1:46977818-47010579	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46981800-46986800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:46983200-46987800	Weak transcription	Pancreas	Pancrea
3	chr1:46983200-46989800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:46984400-46987600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:46984800-46986800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:46984800-46987000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:46984800-46988200	Enhancers	NHEK	skin
8	chr1:46984800-46988600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:46985000-46986800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr1:46985000-46987000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:46985000-46990200	Enhancers	HMEC	breast
12	chr1:46985200-46986800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:46985200-46986800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:46985200-46987800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:46985600-46986800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:46985600-46986800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr1:46985600-46986800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:46985600-46986800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr1:46985600-46986800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:46985600-46986800	Flanking Active TSS	Hela-S3	cervix
21	chr1:46985600-46988600	Enhancers	HSMMtube	muscle
22	chr1:46985800-46986800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:46985800-46986800	Bivalent Enhancer	Fetal Heart	heart
24	chr1:46985800-46986800	Bivalent Enhancer	Placenta	Placenta
25	chr1:46985800-46986800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:46985800-46986800	Enhancers	NHLF	lung
27	chr1:46985800-46989800	Enhancers	Adipose Nuclei	Adipose
28	chr1:46986000-46986800	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr1:46986000-46987000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:46986000-46987000	Enhancers	NHDF-Ad	bronchial
31	chr1:46986000-46988000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:46986200-46987400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:46986400-46986800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:46986400-46986800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:46986400-46987200	Weak transcription	Esophagus	oesophagus
36	chr1:46986400-46987200	Enhancers	K562	blood
37	chr1:46986400-46987800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:46986400-46987800	Weak transcription	Gastric	stomach
39	chr1:46986400-46987800	Weak transcription	Right Atrium	heart
40	chr1:46986400-46987800	Enhancers	Osteobl	bone
41	chr1:46986400-46988400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:46986400-46988400	Weak transcription	Lung	lung
43	chr1:46986400-46988800	Enhancers	HSMM	muscle
44	chr1:46986600-46987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:46986600-46987600	Enhancers	A549	lung
46	chr1:46986600-46987800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:46986600-46987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:46986600-46987800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:46986600-46987800	Weak transcription	Fetal Lung	lung
50	chr1:46986600-46988400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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