Variant report

Variant	rs72969405
Chromosome Location	chr11:86506543-86506544
allele	A/G
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	RAD21	chr11:86506536-86507365	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr11:86506529-86506793	K562	blood:	n/a	n/a
3	NR2F2	chr11:86506422-86506898	MCF-7	breast:	n/a	n/a
4	TBP	chr11:86506534-86507395	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr11:86506480-86507387	Hela-S3	cervix:	n/a	chr11:86506580-86506588
6	MAFK	chr11:86506508-86507257	Hela-S3	cervix:	n/a	n/a
7	EP300	chr11:86506469-86507452	A549	lung:	n/a	chr11:86506864-86506878
8	TCF12	chr11:86506381-86507457	A549	lung:	n/a	n/a
9	SETDB1	chr11:86506452-86507369	U2OS	brain:	n/a	n/a
10	FOXM1	chr11:86506448-86507391	MCF-7	breast:	n/a	n/a
11	EP300	chr11:86506521-86507406	MCF-7	breast:	n/a	chr11:86506864-86506878
12	CHD2	chr11:86506415-86507358	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr11:86506525-86507416	Hela-S3	cervix:	n/a	chr11:86506866-86506879
14	EP300	chr11:86506458-86507492	A549	lung:	n/a	chr11:86506864-86506878
15	GATA3	chr11:86506350-86507495	MCF-7	breast:	n/a	n/a
16	ELK4	chr11:86506468-86507191	Hela-S3	cervix:	n/a	n/a
17	SP1	chr11:86506461-86507460	A549	lung:	n/a	n/a
18	SP1	chr11:86506527-86507491	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
2	chr11:86501626..86503542-chr11:86505190..86506706,2	K562	blood:

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000150687	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 61 )
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	0.87[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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605608	1.00[ASN][1000 genomes]
rs11606102	1.00[ASN][1000 genomes]
rs11608167	0.87[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	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758195	1.00[ASN][1000 genomes]
rs17758206	1.00[ASN][1000 genomes]
rs17758334	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758376	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758400	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820139	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815753	1.00[ASN][1000 genomes]
rs2011913	1.00[ASN][1000 genomes]
rs34963582	1.00[ASN][1000 genomes]
rs35666652	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35781069	1.00[ASN][1000 genomes]
rs4307742	1.00[ASN][1000 genomes]
rs57857339	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399373	0.88[AMR][1000 genomes];0.95[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];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67939314	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128805	1.00[ASN][1000 genomes]
rs71465659	1.00[ASN][1000 genomes]
rs72967468	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969425	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969430	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969443	0.87[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];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86495400-86510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:86497000-86510000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:86502400-86509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:86502400-86510800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:86502600-86511000	Weak transcription	Fetal Kidney	kidney
6	chr11:86503400-86510400	Weak transcription	Fetal Lung	lung
7	chr11:86503600-86510600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:86503600-86510800	Weak transcription	Pancreas	Pancrea
9	chr11:86504600-86510800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:86504600-86511000	Weak transcription	Psoas Muscle	Psoas
11	chr11:86505200-86510400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:86505400-86506800	Enhancers	A549	lung
13	chr11:86505600-86506600	Weak transcription	HUVEC	blood vessel
14	chr11:86505600-86510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:86505600-86510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:86506400-86506600	Flanking Active TSS	Hela-S3	cervix
17	chr11:86506400-86506800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:86506400-86507200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:86506400-86507400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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