Variant report

Variant	rs3809048
Chromosome Location	chr11:86510783-86510784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr11:86510751-86512026	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:86510685-86512050	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:86510761-86510905	MCF-7	breast:	n/a	chr11:86510819-86510832
4	CTCF	chr11:86510760-86510910	SAEC	small airway:	n/a	chr11:86510819-86510832
5	POLR2A	chr11:86510753-86513346	IMR90	lung:	n/a	n/a
6	SMARCB1	chr11:86510662-86512174	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:86510680-86510830	BJ	skin:	n/a	n/a
8	CTCF	chr11:86510738-86510933	MCF-7	breast:	n/a	chr11:86510819-86510832
9	CTCF	chr11:86510760-86510910	SK-N-SH_RA	brain:	n/a	chr11:86510819-86510832
10	GATA3	chr11:86510037-86512374	A549	lung:	n/a	n/a
11	CTCF	chr11:86510746-86510897	K562	blood:	n/a	chr11:86510819-86510832
12	RAD21	chr11:86510636-86511130	HCT-116	colon:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
13	SIN3AK20	chr11:86510678-86512073	PANC-1	pancreas:	n/a	n/a
14	MXI1	chr11:86510575-86512847	IMR90	lung:	n/a	n/a
15	MAX	chr11:86510695-86512348	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:86510742-86511040	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:86510700-86510850	HPAF	blood vessel:	n/a	chr11:86510819-86510832
18	RAD21	chr11:86510698-86510945	SK-N-SH_RA	brain:	n/a	chr11:86510819-86510833
19	CTCF	chr11:86510700-86510850	HCPEpiC	choroid plexus:	n/a	chr11:86510819-86510832
20	CTCF	chr11:86510766-86510881	NHEK	skin:	n/a	chr11:86510819-86510832
21	CTCF	chr11:86510679-86510965	IMR90	lung:	n/a	chr11:86510819-86510832
22	RAD21	chr11:86510630-86511172	MCF-7	breast:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
23	CTCF	chr11:86510720-86510870	SAEC	small airway:	n/a	chr11:86510819-86510832
24	CTCF	chr11:86510685-86510888	A549	lung:	n/a	chr11:86510819-86510832
25	CTCF	chr11:86510744-86510911	Hela-S3	cervix:	n/a	chr11:86510819-86510832
26	CTCF	chr11:86510744-86510915	H1-hESC	embryonic stem cell:	n/a	chr11:86510819-86510832
27	CTCF	chr11:86510515-86511157	HCT-116	colon:	n/a	chr11:86510819-86510832
28	CTCF	chr11:86510713-86510951	MCF-7	breast:	n/a	chr11:86510819-86510832
29	CTCF	chr11:86510700-86510850	A549	lung:	n/a	chr11:86510819-86510832
30	POLR2A	chr11:86510595-86510982	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr11:86510717-86510943	A549	lung:	n/a	chr11:86510819-86510832
32	TCF12	chr11:86510528-86514075	A549	lung:	n/a	chr11:86511110-86511117 chr11:86511890-86511900 chr11:86511552-86511559
33	JUND	chr11:86510729-86511761	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:86510760-86510910	AG04449	skin:	n/a	chr11:86510819-86510832
35	POLR2A	chr11:86509962-86514215	PANC-1	pancreas:	n/a	n/a
36	RAD21	chr11:86510402-86511749	HCT-116	colon:	n/a	chr11:86511421-86511435 chr11:86510819-86510833 chr11:86511551-86511564 chr11:86511106-86511115
37	MAX	chr11:86509868-86513390	A549	lung:	n/a	chr11:86512626-86512641
38	CTCF	chr11:86510780-86510930	AG09319	gingival:	n/a	chr11:86510819-86510832
39	RAD21	chr11:86510661-86510979	SK-N-SH_RA	brain:	n/a	chr11:86510819-86510833
40	ZBTB7A	chr11:86510523-86511679	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr11:86510724-86510972	A549	lung:	n/a	n/a
42	RAD21	chr11:86510709-86511301	A549	lung:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
43	CTCF	chr11:86510766-86510902	Fibrobl	skin:	n/a	chr11:86510819-86510832
44	RAD21	chr11:86510659-86510937	K562	blood:	n/a	chr11:86510819-86510833
45	EP300	chr11:86510690-86511878	SK-N-SH	brain:	n/a	chr11:86510871-86510887 chr11:86511667-86511683 chr11:86511668-86511684
46	CTCF	chr11:86510720-86510870	MCF-7	breast:	n/a	chr11:86510819-86510832
47	SP1	chr11:86510709-86511749	A549	lung:	n/a	chr11:86511440-86511454 chr11:86511044-86511058 chr11:86511144-86511156 chr11:86511048-86511058 chr11:86511444-86511453 chr11:86511145-86511154 chr11:86511047-86511059 chr11:86511048-86511057 chr11:86511048-86511058 chr11:86511443-86511455 chr11:86511144-86511156 chr11:86511145-86511155 chr11:86511047-86511059 chr11:86511049-86511058
48	TAF7	chr11:86510753-86511479	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:86510760-86510910	HRPEpiC	eye:	n/a	chr11:86510819-86510832
50	POLR2A	chr11:86510303-86513281	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86387229..86387842-chr11:86510373..86511197,2	MCF-7	breast:
2	chr11:86510417..86513146-chr20:45982984..45985420,2	MCF-7	breast:
3	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
4	chr11:86404850..86407164-chr11:86508188..86511166,2	MCF-7	breast:
5	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
6	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
7	chr11:86414005..86419352-chr11:86508550..86514510,10	MCF-7	breast:
8	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:
9	chr11:86319075..86319750-chr11:86510265..86511089,4	MCF-7	breast:

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000101040	Chromatin interaction
ENSG00000254731	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11234809	0.82[ASN][1000 genomes]
rs11601553	0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11602695	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12420039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12421517	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12421942	0.91[ASN][1000 genomes]
rs12574979	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12802848	0.82[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12809023	0.82[ASN][1000 genomes]
rs17211787	1.00[MEX][hapmap]
rs17211926	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17212012	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17819068	0.87[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs17819134	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17819181	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs17819187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1939110	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1939111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1939112	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1939113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1939114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1939115	0.91[ASN][1000 genomes]
rs1939116	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1939117	0.82[ASN][1000 genomes]
rs1954769	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2005192	0.82[CHB][hapmap]
rs2155080	0.82[ASN][1000 genomes]
rs2155081	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2433431	0.86[MEX][hapmap]
rs2433432	0.86[MEX][hapmap]
rs2433433	0.86[MEX][hapmap]
rs2433434	0.86[MEX][hapmap]
rs2433439	0.93[MEX][hapmap]
rs2513003	0.86[MEX][hapmap]
rs28517777	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35902217	0.82[ASN][1000 genomes]
rs36061072	0.82[ASN][1000 genomes]
rs4128368	0.91[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4269941	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4291699	0.81[ASN][1000 genomes]
rs4304806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4307743	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4307748	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4423210	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4485132	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4495915	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4570601	0.82[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4944630	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs55646317	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58512185	0.98[AMR][1000 genomes]
rs58976693	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60023003	0.84[AMR][1000 genomes]
rs61707378	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592315	0.82[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7105467	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7108490	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7120185	0.81[ASN][1000 genomes]
rs7120320	0.84[AMR][1000 genomes]
rs7123349	0.82[ASN][1000 genomes]
rs7126492	0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7131625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs744292	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940201	0.82[ASN][1000 genomes]
rs7948063	0.82[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs7951582	0.82[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3415782	chr11:86510654-86512652	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers 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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86502400-86510800	Weak transcription	Fetal Intestine Large	intestine
2	chr11:86502600-86511000	Weak transcription	Fetal Kidney	kidney
3	chr11:86503600-86510800	Weak transcription	Pancreas	Pancrea
4	chr11:86504600-86510800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:86504600-86511000	Weak transcription	Psoas Muscle	Psoas
6	chr11:86505600-86510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:86506800-86510800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:86507200-86510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:86508200-86510800	Weak transcription	Fetal Stomach	stomach
10	chr11:86508200-86510800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:86508400-86510800	Weak transcription	Fetal Heart	heart
12	chr11:86508600-86511000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:86509600-86510800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:86509800-86510800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:86509800-86510800	Enhancers	HSMM	muscle
16	chr11:86509800-86511000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:86510000-86510800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:86510000-86510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:86510000-86510800	Enhancers	Fetal Intestine Small	intestine
20	chr11:86510000-86510800	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:86510000-86511000	Enhancers	HUVEC	blood vessel
22	chr11:86510200-86510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:86510200-86510800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:86510200-86510800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:86510200-86510800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr11:86510200-86510800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr11:86510200-86510800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:86510200-86510800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:86510200-86510800	Enhancers	HMEC	breast
30	chr11:86510200-86511000	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:86510200-86511000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:86510200-86511000	Enhancers	HSMMtube	muscle
33	chr11:86510200-86511200	Enhancers	Liver	Liver
34	chr11:86510200-86511200	Flanking Active TSS	Hela-S3	cervix
35	chr11:86510200-86511400	Flanking Active TSS	NH-A	brain
36	chr11:86510400-86510800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:86510400-86510800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:86510400-86510800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:86510400-86510800	Enhancers	NHEK	skin
40	chr11:86510400-86511000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:86510400-86511000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:86510400-86511200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr11:86510400-86511200	Enhancers	Fetal Lung	lung
44	chr11:86510400-86511400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr11:86510400-86512200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:86510600-86510800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr11:86510600-86510800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:86510600-86510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:86510600-86510800	Enhancers	Adipose Nuclei	Adipose
50	chr11:86510600-86510800	Enhancers	Brain Hippocampus Middle	brain

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