Variant report

Variant	rs72972537
Chromosome Location	chr11:93910028-93910029
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11828416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972552	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972556	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972562	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972566	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972568	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8830	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv517664	chr11:93866147-93913036	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93884000-93912800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:93885200-93916200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:93885400-93911200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:93886000-93913000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:93886200-93910800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:93886600-93913000	Weak transcription	K562	blood
7	chr11:93886800-93912800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:93887000-93911600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:93887600-93910600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:93887600-93910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:93887600-93911600	Weak transcription	Spleen	Spleen
12	chr11:93887800-93910800	Weak transcription	Liver	Liver
13	chr11:93889800-93910800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:93889800-93911400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:93889800-93912800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:93890200-93910800	Weak transcription	Thymus	Thymus
17	chr11:93895800-93911000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:93896200-93911600	Weak transcription	Ovary	ovary
19	chr11:93897800-93920000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:93900200-93910600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:93900400-93910800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:93900400-93916000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:93900600-93912200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:93901200-93910800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:93901200-93911600	Weak transcription	Fetal Brain Female	brain
26	chr11:93901200-93913200	Weak transcription	Brain Substantia Nigra	brain
27	chr11:93901200-93917200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:93901400-93921200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:93901800-93914000	Weak transcription	Esophagus	oesophagus
30	chr11:93902000-93911400	Weak transcription	Fetal Kidney	kidney
31	chr11:93902200-93911600	Weak transcription	Pancreas	Pancrea
32	chr11:93902200-93911800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:93902400-93911400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:93902800-93910600	Weak transcription	Gastric	stomach
35	chr11:93902800-93911400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:93903000-93911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:93904200-93911200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:93904200-93911600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:93904400-93913800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:93904600-93911800	Weak transcription	GM12878-XiMat	blood
41	chr11:93904800-93911400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:93904800-93920000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:93905200-93911600	Weak transcription	Lung	lung
44	chr11:93905400-93910800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:93905400-93910800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:93905400-93910800	Weak transcription	Left Ventricle	heart
47	chr11:93905400-93911000	Weak transcription	HepG2	liver
48	chr11:93905400-93919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:93905600-93911200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:93905600-93911200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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