Variant report

Variant	rs72969422
Chromosome Location	chr11:86510623-86510624
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	FOSL2	chr11:86509936-86510650	A549	lung:	n/a	n/a
2	GATA3	chr11:86510037-86512374	A549	lung:	n/a	n/a
3	MXI1	chr11:86510575-86512847	IMR90	lung:	n/a	n/a
4	CTCF	chr11:86510515-86511157	HCT-116	colon:	n/a	chr11:86510819-86510832
5	POLR2A	chr11:86510595-86510982	HUVEC	blood vessel:	n/a	n/a
6	TCF12	chr11:86510528-86514075	A549	lung:	n/a	chr11:86511110-86511117 chr11:86511890-86511900 chr11:86511552-86511559
7	POLR2A	chr11:86509962-86514215	PANC-1	pancreas:	n/a	n/a
8	RAD21	chr11:86510402-86511749	HCT-116	colon:	n/a	chr11:86511421-86511435 chr11:86510819-86510833 chr11:86511551-86511564 chr11:86511106-86511115
9	MAX	chr11:86509868-86513390	A549	lung:	n/a	chr11:86512626-86512641
10	ZBTB7A	chr11:86510523-86511679	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr11:86510303-86513281	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:86509643-86515323	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr11:86510131-86510985	SK-N-SH	brain:	n/a	n/a
14	HDAC2	chr11:86510619-86511862	MCF-7	breast:	n/a	n/a
15	REST	chr11:86510502-86511465	A549	lung:	n/a	chr11:86510909-86510922 chr11:86510909-86510922 chr11:86511019-86511027
16	RAD21	chr11:86510055-86511171	A549	lung:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
17	POLR2A	chr11:86509917-86510701	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:86510046-86513083	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr11:86510614-86511081	A549	lung:	n/a	chr11:86510819-86510833
20	JUND	chr11:86509761-86512797	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr11:86510600-86510750	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr11:86510073-86513036	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr11:86510539-86511359	H1-hESC	embryonic stem cell:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
24	RAD21	chr11:86510058-86510970	Hela-S3	cervix:	n/a	chr11:86510819-86510833
25	MAX	chr11:86510063-86510672	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:86510623-86512114	MCF-7	breast:	n/a	n/a
27	RAD21	chr11:86510562-86511102	MCF-7	breast:	n/a	chr11:86510819-86510833
28	POLR2A	chr11:86510092-86510701	Hela-S3	cervix:	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
ENSG00000151376	Chromatin interaction
ENSG00000254731	Chromatin interaction
ENSG00000181830	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10501629	1.00[ASN][1000 genomes]
rs11234769	1.00[ASN][1000 genomes]
rs11234776	1.00[ASN][1000 genomes]
rs11234777	1.00[ASN][1000 genomes]
rs11234778	1.00[ASN][1000 genomes]
rs11234785	1.00[ASN][1000 genomes]
rs11234798	1.00[ASN][1000 genomes]
rs11234799	1.00[ASN][1000 genomes]
rs11234800	1.00[ASN][1000 genomes]
rs11234818	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602353	1.00[ASN][1000 genomes]
rs11604205	1.00[ASN][1000 genomes]
rs11605575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605608	1.00[ASN][1000 genomes]
rs11606102	1.00[ASN][1000 genomes]
rs11608167	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362740	1.00[ASN][1000 genomes]
rs12791451	1.00[ASN][1000 genomes]
rs12798749	1.00[ASN][1000 genomes]
rs12807796	1.00[ASN][1000 genomes]
rs17159941	1.00[ASN][1000 genomes]
rs17758195	1.00[ASN][1000 genomes]
rs17758206	1.00[ASN][1000 genomes]
rs17758334	1.00[ASN][1000 genomes]
rs17758376	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758400	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820139	1.00[ASN][1000 genomes]
rs1815753	1.00[ASN][1000 genomes]
rs2011913	1.00[ASN][1000 genomes]
rs34963582	1.00[ASN][1000 genomes]
rs35666652	1.00[ASN][1000 genomes]
rs35781069	1.00[ASN][1000 genomes]
rs4307742	1.00[ASN][1000 genomes]
rs57857339	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399373	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66672297	1.00[ASN][1000 genomes]
rs66827623	1.00[ASN][1000 genomes]
rs67313042	1.00[ASN][1000 genomes]
rs67588995	1.00[ASN][1000 genomes]
rs67761566	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67939314	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128805	1.00[ASN][1000 genomes]
rs71465659	1.00[ASN][1000 genomes]
rs72967468	1.00[ASN][1000 genomes]
rs72967500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969425	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969430	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969443	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969477	1.00[ASN][1000 genomes]
rs7934478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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: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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