Variant report

Variant	rs72972562
Chromosome Location	chr11:93917000-93917001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93916648..93917265-chr11:94150276..94150816,3	MCF-7	breast:
2	chr11:93654636..93655438-chr11:93916836..93917602,2	MCF-7	breast:
3	chr11:93916747..93917349-chr11:94058220..94059212,2	MCF-7	breast:
4	chr11:93916755..93917614-chr11:94150312..94151338,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11828416	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72972544	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972547	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972549	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72972568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93897800-93920000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:93901200-93917200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:93901400-93921200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:93904800-93920000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:93905400-93919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:93907200-93919600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:93909200-93917400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:93909400-93917400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:93909400-93918400	Weak transcription	Fetal Heart	heart
10	chr11:93909600-93917000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:93909800-93917200	Weak transcription	HUVEC	blood vessel
12	chr11:93910400-93919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:93910600-93917200	Strong transcription	Dnd41	blood
14	chr11:93910600-93919200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:93910800-93917000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:93910800-93917000	Strong transcription	Left Ventricle	heart
17	chr11:93911200-93917000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:93911600-93917000	Weak transcription	A549	lung
19	chr11:93911600-93917200	Weak transcription	Colonic Mucosa	Colon
20	chr11:93912200-93921000	Weak transcription	Brain Anterior Caudate	brain
21	chr11:93912600-93917200	Strong transcription	NHEK	skin
22	chr11:93913400-93917200	Weak transcription	K562	blood
23	chr11:93913600-93917000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:93913600-93919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:93913600-93929400	Weak transcription	Gastric	stomach
26	chr11:93913800-93921400	Weak transcription	Fetal Brain Male	brain
27	chr11:93914000-93917000	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:93914200-93917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:93914400-93917200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:93914400-93920400	Weak transcription	Primary B cells from cord blood	blood
31	chr11:93914600-93917200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:93914800-93917000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:93914800-93917000	Weak transcription	Ovary	ovary
34	chr11:93914800-93917000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:93914800-93917200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:93914800-93917200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:93914800-93917200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:93914800-93917200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:93914800-93918400	Weak transcription	Psoas Muscle	Psoas
40	chr11:93914800-93919800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:93914800-93920400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:93914800-93920600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:93914800-93921000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:93914800-93921600	Weak transcription	Thymus	Thymus
45	chr11:93914800-93926200	Weak transcription	Esophagus	oesophagus
46	chr11:93914800-93926200	Weak transcription	Spleen	Spleen
47	chr11:93915000-93917000	Weak transcription	Liver	Liver
48	chr11:93915000-93917000	Weak transcription	NHDF-Ad	bronchial
49	chr11:93915000-93917200	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:93915000-93917200	Weak transcription	Fetal Muscle Leg	muscle

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