Variant report

Variant	rs1267301
Chromosome Location	chr1:46992853-46992854
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46991343..46993867-chr1:46999372..47001574,2	K562	blood:
2	chr1:46908197..46910490-chr1:46990739..46993641,3	K562	blood:
3	chr1:46986798..46990832-chr1:46991693..46995331,8	K562	blood:
4	chr1:46985009..46990560-chr1:46990823..46993646,5	K562	blood:
5	chr1:46979114..46981984-chr1:46990553..46993126,2	K562	blood:
6	chr1:46941803..46948881-chr1:46990723..46995697,8	K562	blood:
7	chr1:46943126..46948119-chr1:46990723..46995697,9	K562	blood:
8	chr1:46992642..46995559-chr1:47183422..47185520,2	MCF-7	breast:
9	chr1:46979573..46981984-chr1:46991626..46994560,2	K562	blood:
10	chr1:46942791..46943886-chr1:46992652..46994425,24	MCF-7	breast:
11	chr1:46992147..46995347-chr1:47008706..47012363,4	K562	blood:
12	chr1:46937960..46939481-chr1:46992013..46994117,2	K562	blood:
13	chr1:46910308..46913456-chr1:46992468..46994457,29	K562	blood:
14	chr1:46911310..46914050-chr1:46990566..46993135,2	MCF-7	breast:
15	chr1:46957824..46960090-chr1:46991984..46994701,2	K562	blood:
16	chr1:46991986..46993647-chr1:47009898..47012752,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159658	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11588450	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs1267302	0.90[EUR][1000 genomes]
rs1267304	0.86[EUR][1000 genomes]
rs1267306	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1267308	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267309	0.82[EUR][1000 genomes]
rs1267310	0.82[EUR][1000 genomes]
rs1267312	0.82[EUR][1000 genomes]
rs1267313	0.82[EUR][1000 genomes]
rs1267314	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1745370	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1745371	0.82[EUR][1000 genomes]
rs2404611	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2476162	0.87[EUR][1000 genomes]
rs2476164	0.82[EUR][1000 genomes]
rs2486163	0.95[EUR][1000 genomes]
rs3737740	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57100184	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59935547	0.96[EUR][1000 genomes]
rs61395024	0.90[EUR][1000 genomes]
rs61783087	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6670699	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6696219	0.97[EUR][1000 genomes]
rs6703148	0.89[AMR][1000 genomes]
rs72894667	0.83[EUR][1000 genomes]
rs7519040	0.82[EUR][1000 genomes]
rs7524253	0.97[EUR][1000 genomes]
rs7542296	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs942255	0.82[CHB][hapmap];0.84[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46987800-46993800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:46988800-46998600	Weak transcription	Right Ventricle	heart
3	chr1:46989000-46993200	Weak transcription	Pancreas	Pancrea
4	chr1:46989000-46999000	Weak transcription	Gastric	stomach
5	chr1:46989200-46998600	Weak transcription	Right Atrium	heart
6	chr1:46989800-46994200	Enhancers	K562	blood
7	chr1:46990000-46993800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:46990200-46994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:46990200-46994400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr1:46990400-46993000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:46990600-46994400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr1:46991800-46993000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr1:46992000-46993200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:46992400-46993400	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr1:46992400-46993600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:46992400-46993600	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr1:46992400-46993800	Enhancers	Liver	Liver
18	chr1:46992400-46994000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:46992600-46993000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:46992600-46993000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:46992600-46993000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr1:46992600-46993800	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr1:46992600-46993800	Enhancers	Spleen	Spleen
24	chr1:46992600-46993800	Enhancers	A549	lung
25	chr1:46992600-46994400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:46992600-46995000	Enhancers	Hela-S3	cervix
27	chr1:46992800-46993000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr1:46992800-46993000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:46992800-46993400	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr1:46992800-46993600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr1:46992800-46993600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
32	chr1:46992800-46993800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
33	chr1:46992800-46993800	Enhancers	HepG2	liver
34	chr1:46992800-46994200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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