Variant report

Variant	rs73494137
Chromosome Location	chr11:63663545-63663546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63663375..63669809-chr11:63669959..63673473,8	K562	blood:
2	chr11:63661829..63663997-chr11:63667272..63670174,2	MCF-7	breast:
3	chr11:63663467..63666337-chr11:63684707..63687622,3	MCF-7	breast:
4	chr11:63655555..63659393-chr11:63662720..63665876,4	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1499641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2133545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320106	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320132	1.00[AMR][1000 genomes]
rs56892076	1.00[AMR][1000 genomes]
rs59337858	1.00[AMR][1000 genomes]
rs60996420	1.00[AMR][1000 genomes]
rs73492282	1.00[AMR][1000 genomes]
rs73494180	1.00[AMR][1000 genomes]
rs7948086	1.00[AMR][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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63654800-63664000	Weak transcription	Fetal Brain Male	brain
2	chr11:63655800-63664200	Weak transcription	NHDF-Ad	bronchial
3	chr11:63656200-63663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:63656200-63663600	Weak transcription	Aorta	Aorta
5	chr11:63656200-63664000	Weak transcription	NH-A	brain
6	chr11:63656400-63665400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:63656600-63663800	Weak transcription	Fetal Kidney	kidney
8	chr11:63656800-63665800	Weak transcription	Psoas Muscle	Psoas
9	chr11:63657000-63670000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:63657400-63677800	Strong transcription	Dnd41	blood
11	chr11:63658000-63663600	Weak transcription	Right Atrium	heart
12	chr11:63658200-63664000	Weak transcription	HMEC	breast
13	chr11:63658800-63678400	Strong transcription	Primary B cells from cord blood	blood
14	chr11:63659200-63665000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:63659400-63678600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:63659600-63665400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:63659600-63680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:63659800-63678000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
20	chr11:63660000-63674400	Strong transcription	Fetal Thymus	thymus
21	chr11:63660200-63663600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:63660200-63673200	Strong transcription	Fetal Intestine Small	intestine
23	chr11:63660600-63674000	Strong transcription	Fetal Stomach	stomach
24	chr11:63660800-63669400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:63660800-63669800	Strong transcription	Hela-S3	cervix
26	chr11:63660800-63670000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:63660800-63672600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:63660800-63674400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:63660800-63674400	Strong transcription	Fetal Lung	lung
30	chr11:63660800-63678000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:63661000-63669800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:63661000-63673200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:63661000-63674000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:63661000-63677800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:63661000-63678000	Strong transcription	Liver	Liver
36	chr11:63661200-63663600	Strong transcription	Primary T cells from cord blood	blood
37	chr11:63661200-63678600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:63661400-63663800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:63661400-63673600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:63661400-63675800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:63661600-63677400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:63661600-63678000	Strong transcription	Thymus	Thymus
43	chr11:63661600-63678000	Strong transcription	NHEK	skin
44	chr11:63661800-63663600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:63661800-63663600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:63661800-63674000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:63662000-63663600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:63662000-63664000	Strong transcription	Brain Cingulate Gyrus	brain
49	chr11:63662200-63663600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:63662200-63663600	Strong transcription	Brain Angular Gyrus	brain

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