Variant report

Variant	rs872619
Chromosome Location	chr11:86510340-86510341
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr11:86509936-86510650	A549	lung:	n/a	n/a
2	RCOR1	chr11:86510067-86510389	Hela-S3	cervix:	n/a	n/a
3	JUND	chr11:86509815-86510470	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr11:86510037-86512374	A549	lung:	n/a	n/a
5	YY1	chr11:86509921-86510390	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr11:86510021-86510377	Hela-S3	cervix:	n/a	n/a
7	FOSL2	chr11:86509862-86510517	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr11:86509774-86510530	SK-N-SH	brain:	n/a	n/a
9	JUND	chr11:86510013-86510580	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr11:86510044-86510370	SK-N-SH_RA	brain:	n/a	n/a
11	RAD21	chr11:86510020-86510391	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr11:86510200-86510350	AoAF	blood vessel:	n/a	n/a
13	POLR2A	chr11:86509962-86514215	PANC-1	pancreas:	n/a	n/a
14	GATA3	chr11:86509786-86510530	SK-N-SH	brain:	n/a	n/a
15	MAX	chr11:86509868-86513390	A549	lung:	n/a	chr11:86512626-86512641
16	CTCF	chr11:86510200-86510350	HPAF	blood vessel:	n/a	n/a
17	EP300	chr11:86510029-86510420	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:86510303-86513281	MCF-7	breast:	n/a	n/a
19	POLR2A	chr11:86509643-86515323	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr11:86510131-86510985	SK-N-SH	brain:	n/a	n/a
21	TBP	chr11:86510056-86510537	Hela-S3	cervix:	n/a	n/a
22	GTF2F1	chr11:86510110-86510438	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr11:86510055-86511171	A549	lung:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
24	MAFK	chr11:86510089-86510352	IMR90	lung:	n/a	n/a
25	USF2	chr11:86510152-86510384	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:86509917-86510701	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:86510046-86513083	Hela-S3	cervix:	n/a	n/a
28	JUND	chr11:86509820-86510520	SK-N-SH	brain:	n/a	n/a
29	PBX3	chr11:86509824-86510544	SK-N-SH	brain:	n/a	n/a
30	MAX	chr11:86509865-86510440	SK-N-SH	brain:	n/a	n/a
31	JUND	chr11:86509761-86512797	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr11:86509882-86510457	SK-N-SH	brain:	n/a	n/a
33	TAF1	chr11:86510045-86510397	SK-N-SH	brain:	n/a	n/a
34	SMC3	chr11:86510073-86513036	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr11:86510240-86510390	AG04449	skin:	n/a	n/a
36	TCF12	chr11:86509768-86510405	SK-N-SH	brain:	n/a	n/a
37	RFX5	chr11:86510046-86510392	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr11:86510058-86510970	Hela-S3	cervix:	n/a	chr11:86510819-86510833
39	MAX	chr11:86510063-86510672	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:86510092-86510701	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
2	chr11:86404850..86407164-chr11:86508188..86511166,2	MCF-7	breast:
3	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
4	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
5	chr11:86414005..86419352-chr11:86508550..86514510,10	MCF-7	breast:
6	chr11:86319075..86319750-chr11:86510265..86511089,4	MCF-7	breast:

No data

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000254731	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10898535	1.00[ASN][1000 genomes]
rs11234804	1.00[ASN][1000 genomes]
rs11234805	1.00[ASN][1000 genomes]
rs11234806	1.00[ASN][1000 genomes]
rs11602721	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604191	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11606902	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362094	1.00[ASN][1000 genomes]
rs12786875	1.00[ASN][1000 genomes]
rs12787853	1.00[ASN][1000 genomes]
rs12788554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793595	1.00[ASN][1000 genomes]
rs12799567	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000537	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000538	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105587	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34873514	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781614	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592314	1.00[ASN][1000 genomes]
rs7128682	1.00[ASN][1000 genomes]
rs750789	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754490	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
5	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3370524	chr11:86510129-86512677	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86495400-86510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:86502400-86510800	Weak transcription	Fetal Intestine Large	intestine
3	chr11:86502600-86511000	Weak transcription	Fetal Kidney	kidney
4	chr11:86503400-86510400	Weak transcription	Fetal Lung	lung
5	chr11:86503600-86510600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:86503600-86510800	Weak transcription	Pancreas	Pancrea
7	chr11:86504600-86510800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:86504600-86511000	Weak transcription	Psoas Muscle	Psoas
9	chr11:86505200-86510400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:86505600-86510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:86505600-86510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:86506800-86510800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:86507200-86510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:86507400-86510400	Weak transcription	NHEK	skin
15	chr11:86508200-86510800	Weak transcription	Fetal Stomach	stomach
16	chr11:86508200-86510800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:86508400-86510800	Weak transcription	Fetal Heart	heart
18	chr11:86508600-86511000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:86509000-86510600	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:86509600-86510800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:86509800-86510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:86509800-86510600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:86509800-86510600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:86509800-86510600	Enhancers	Osteobl	bone
25	chr11:86509800-86510800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:86509800-86510800	Enhancers	HSMM	muscle
27	chr11:86509800-86511000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:86510000-86510400	Active TSS	Stomach Smooth Muscle	stomach
29	chr11:86510000-86510600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:86510000-86510600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:86510000-86510600	Enhancers	A549	lung
32	chr11:86510000-86510800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:86510000-86510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:86510000-86510800	Enhancers	Fetal Intestine Small	intestine
35	chr11:86510000-86510800	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:86510000-86511000	Enhancers	HUVEC	blood vessel
37	chr11:86510200-86510400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr11:86510200-86510400	Enhancers	Colon Smooth Muscle	Colon
39	chr11:86510200-86510400	Enhancers	NHDF-Ad	bronchial
40	chr11:86510200-86510600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr11:86510200-86510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:86510200-86510800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:86510200-86510800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:86510200-86510800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr11:86510200-86510800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr11:86510200-86510800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:86510200-86510800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:86510200-86510800	Enhancers	HMEC	breast
49	chr11:86510200-86511000	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:86510200-86511000	Enhancers	Placenta Amnion	Placenta Amnion

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