Variant report

Variant	rs11083561
Chromosome Location	chr19:41101981-41101982
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40967363..40973578-chr19:41101518..41109514,8	K562	blood:
2	chr19:40948223..40951399-chr19:41100513..41104736,3	MCF-7	breast:
3	chr19:41074953..41077910-chr19:41101103..41104097,3	MCF-7	breast:
4	chr19:41081761..41084466-chr19:41100896..41105533,6	MCF-7	breast:
5	chr19:41093850..41097927-chr19:41099715..41103880,5	K562	blood:
6	chr19:41094390..41097237-chr19:41101497..41103880,2	K562	blood:
7	chr19:41031800..41040224-chr19:41101608..41111828,17	K562	blood:
8	chr19:41087979..41091275-chr19:41098562..41102111,3	MCF-7	breast:
9	chr19:41101978..41104325-chr19:41119218..41120800,2	MCF-7	breast:
10	chr19:41086265..41087810-chr19:41101037..41102645,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268366	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000160410	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10402698	0.83[ASN][1000 genomes]
rs10403467	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10403833	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10403963	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10405930	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10410606	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1051303	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1131620	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11667706	0.92[ASN][1000 genomes]
rs11667772	0.91[ASN][1000 genomes]
rs12611045	0.92[ASN][1000 genomes]
rs12980111	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1318544	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1864074	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1864078	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869712	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278246	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2303727	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2303729	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2369006	0.92[ASN][1000 genomes]
rs2604902	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28649715	0.93[ASN][1000 genomes]
rs28655571	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs392726	0.89[ASN][1000 genomes]
rs393569	0.88[ASN][1000 genomes]
rs396118	0.88[ASN][1000 genomes]
rs404584	0.87[ASN][1000 genomes]
rs406133	0.85[ASN][1000 genomes]
rs415075	0.87[ASN][1000 genomes]
rs420720	0.88[ASN][1000 genomes]
rs4803348	0.92[ASN][1000 genomes]
rs56353506	0.93[ASN][1000 genomes]
rs7171	0.89[ASN][1000 genomes]
rs7259067	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7259237	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7259554	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8107014	0.92[ASN][1000 genomes]
rs919307	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911716	chr19:41023511-41109456	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv911725	chr19:41090190-41114065	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41084600-41102600	Weak transcription	Right Atrium	heart
2	chr19:41087600-41102600	Weak transcription	Small Intestine	intestine
3	chr19:41094400-41102400	Weak transcription	Fetal Lung	lung
4	chr19:41094600-41102800	Weak transcription	Aorta	Aorta
5	chr19:41094600-41102800	Weak transcription	Left Ventricle	heart
6	chr19:41095200-41102400	Weak transcription	HUVEC	blood vessel
7	chr19:41095200-41103200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:41097000-41102600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:41097000-41102600	Weak transcription	Right Ventricle	heart
10	chr19:41097400-41102600	Weak transcription	Lung	lung
11	chr19:41097400-41102800	Weak transcription	Ovary	ovary
12	chr19:41097400-41102800	Weak transcription	Spleen	Spleen
13	chr19:41100200-41102000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:41100800-41102600	Weak transcription	HSMM	muscle
15	chr19:41100800-41102600	Weak transcription	NHDF-Ad	bronchial
16	chr19:41101000-41102200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:41101000-41102600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:41101000-41102600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:41101000-41102600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:41101000-41102800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:41101000-41102800	Weak transcription	Gastric	stomach
22	chr19:41101000-41102800	Weak transcription	Pancreas	Pancrea
23	chr19:41101000-41102800	Weak transcription	HMEC	breast
24	chr19:41101200-41102000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:41101200-41102200	Weak transcription	Brain Angular Gyrus	brain
26	chr19:41101200-41102400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:41101200-41102400	Enhancers	A549	lung
28	chr19:41101200-41102600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:41101200-41102600	Weak transcription	HSMMtube	muscle
30	chr19:41101200-41102600	Weak transcription	NHLF	lung
31	chr19:41101200-41102600	Weak transcription	Osteobl	bone
32	chr19:41101200-41102800	Weak transcription	NH-A	brain
33	chr19:41101200-41103200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:41101200-41104200	Weak transcription	Dnd41	blood
35	chr19:41101600-41102600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:41101800-41102200	Weak transcription	Hela-S3	cervix
37	chr19:41101800-41102200	Weak transcription	K562	blood

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