Variant report

Variant	rs1267313
Chromosome Location	chr1:46986322-46986323
allele	A/C
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	chr1:46985009..46990560-chr1:46990823..46993646,5	K562	blood:
3	chr1:46919084..46921023-chr1:46985929..46988838,3	K562	blood:
4	chr1:46945406..46947709-chr1:46983667..46986357,2	K562	blood:
5	chr1:46925530..46928308-chr1:46985086..46986885,2	K562	blood:

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

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

rs_ID	r²[population]
rs11588450	0.81[EUR][1000 genomes]
rs1267301	0.82[EUR][1000 genomes]
rs1267302	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1267304	0.89[EUR][1000 genomes]
rs1267306	0.92[EUR][1000 genomes]
rs1267308	0.94[CEU][hapmap];0.99[EUR][1000 genomes]
rs1267309	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1267310	0.93[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1267311	0.93[EUR][1000 genomes]
rs1267312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1745370	0.99[EUR][1000 genomes]
rs1745371	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2404611	0.80[EUR][1000 genomes]
rs2476164	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737740	0.80[EUR][1000 genomes]
rs59935547	0.80[EUR][1000 genomes]
rs61783087	0.80[EUR][1000 genomes]
rs6670699	0.80[EUR][1000 genomes]
rs6696219	0.81[EUR][1000 genomes]
rs7519040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524253	0.81[EUR][1000 genomes]
rs7542296	0.80[EUR][1000 genomes]
rs942255	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.95[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:69 , 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	chr1:46984800-46986600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr1:46984800-46986800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:46984800-46987000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:46984800-46988200	Enhancers	NHEK	skin
9	chr1:46984800-46988600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:46985000-46986600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr1:46985000-46986800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr1:46985000-46987000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:46985000-46990200	Enhancers	HMEC	breast
14	chr1:46985200-46986800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:46985200-46986800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:46985200-46987800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:46985400-46986600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr1:46985400-46986600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr1:46985600-46986400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:46985600-46986400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr1:46985600-46986600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:46985600-46986600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:46985600-46986600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr1:46985600-46986800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:46985600-46986800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr1:46985600-46986800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:46985600-46986800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr1:46985600-46986800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:46985600-46986800	Flanking Active TSS	Hela-S3	cervix
30	chr1:46985600-46988600	Enhancers	HSMMtube	muscle
31	chr1:46985800-46986400	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:46985800-46986400	Flanking Active TSS	K562	blood
33	chr1:46985800-46986600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr1:46985800-46986600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:46985800-46986600	Bivalent Enhancer	Fetal Brain Male	brain
36	chr1:46985800-46986600	Bivalent Enhancer	Fetal Brain Female	brain
37	chr1:46985800-46986600	Enhancers	Fetal Lung	lung
38	chr1:46985800-46986600	Flanking Active TSS	NH-A	brain
39	chr1:46985800-46986800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:46985800-46986800	Bivalent Enhancer	Fetal Heart	heart
41	chr1:46985800-46986800	Bivalent Enhancer	Placenta	Placenta
42	chr1:46985800-46986800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:46985800-46986800	Enhancers	NHLF	lung
44	chr1:46985800-46989800	Enhancers	Adipose Nuclei	Adipose
45	chr1:46986000-46986400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:46986000-46986400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:46986000-46986400	Enhancers	Esophagus	oesophagus
48	chr1:46986000-46986400	Enhancers	Gastric	stomach
49	chr1:46986000-46986400	Enhancers	Lung	lung
50	chr1:46986000-46986400	Enhancers	Right Atrium	heart

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