Variant report

Variant	rs72934636
Chromosome Location	chr11:65867726-65867727
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	MAX	chr11:65867636-65868740	A549	lung:	n/a	chr11:65868433-65868443
2	RUNX3	chr11:65867699-65868652	GM12878	blood:	n/a	n/a
3	MXI1	chr11:65867677-65868801	SK-N-SH	brain:	n/a	n/a
4	PML	chr11:65867625-65868661	GM12878	blood:	n/a	n/a
5	MTA3	chr11:65867643-65868565	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:65867706-65868088	GM12878	blood:	n/a	chr11:65867876-65867885

Variant related genes	Relation type
PACS1	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10488727	0.80[AFR][1000 genomes]
rs1211863	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147321	0.80[AFR][1000 genomes]
rs17147347	0.80[AFR][1000 genomes]
rs2452683	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930174	1.00[EUR][1000 genomes]
rs4930341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57287207	1.00[ASN][1000 genomes]
rs57720880	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58107762	0.80[AFR][1000 genomes]
rs58583648	1.00[EUR][1000 genomes]
rs59807152	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59827057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60095752	1.00[ASN][1000 genomes]
rs60379964	0.80[AFR][1000 genomes]
rs60415795	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591205	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591206	1.00[ASN][1000 genomes]
rs7103495	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932629	1.00[ASN][1000 genomes]
rs72932698	1.00[ASN][1000 genomes]
rs72934614	1.00[EUR][1000 genomes]
rs72934624	1.00[EUR][1000 genomes]
rs72934632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934642	1.00[EUR][1000 genomes]
rs72934655	1.00[EUR][1000 genomes]
rs72934666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934677	1.00[EUR][1000 genomes]
rs72936625	0.96[EUR][1000 genomes]
rs7950327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65842200-65867800	Weak transcription	Ovary	ovary
3	chr11:65845800-65868800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:65848400-65874200	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:65849200-65879600	Weak transcription	Aorta	Aorta
6	chr11:65851600-65867800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:65851600-65868200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:65851800-65867800	Weak transcription	Esophagus	oesophagus
10	chr11:65851800-65872000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:65851800-65878800	Weak transcription	HSMM	muscle
12	chr11:65852000-65867800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:65852000-65867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:65852000-65874000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:65852200-65867800	Weak transcription	Thymus	Thymus
16	chr11:65852200-65871600	Weak transcription	Hela-S3	cervix
17	chr11:65852600-65868000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:65852800-65867800	Weak transcription	Osteobl	bone
19	chr11:65853000-65867800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:65853400-65871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:65854600-65868200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:65855400-65867800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:65855600-65868200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:65856800-65867800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:65859000-65873600	Weak transcription	Fetal Intestine Small	intestine
26	chr11:65859600-65867800	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:65863200-65868200	Weak transcription	Brain Angular Gyrus	brain
28	chr11:65863800-65880200	Weak transcription	Fetal Stomach	stomach
29	chr11:65864200-65867800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:65864400-65868000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:65864800-65868200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:65865000-65867800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:65865000-65867800	Weak transcription	Lung	lung
34	chr11:65865000-65867800	Weak transcription	NHEK	skin
35	chr11:65865200-65867800	Weak transcription	GM12878-XiMat	blood
36	chr11:65865400-65867800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr11:65865400-65867800	Weak transcription	Right Atrium	heart
38	chr11:65866000-65868000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:65866200-65868200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:65866600-65868200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:65866800-65868200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:65867000-65867800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr11:65867200-65867800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:65867200-65867800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:65867200-65868000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:65867200-65868000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:65867200-65870600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:65867400-65867800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:65867400-65867800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:65867400-65867800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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