Variant report

Variant	rs513378
Chromosome Location	chr11:74055632-74055633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74041592..74044323-chr11:74054058..74056372,2	MCF-7	breast:
2	chr11:73942988..73945702-chr11:74054339..74056814,2	K562	blood:
3	chr11:74046011..74047710-chr11:74054931..74057499,2	K562	blood:
4	chr11:74053944..74055887-chr11:74058250..74060555,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11236057	0.89[AFR][1000 genomes]
rs1145683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4505089	0.89[AMR][1000 genomes]
rs518268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528900	0.81[AMR][1000 genomes]
rs531902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs560814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs587836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs596779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs600145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs604998	0.90[AMR][1000 genomes]
rs617184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs640907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs655333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs663937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs687063	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126843	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554619	0.90[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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74031200-74071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74037400-74078800	Weak transcription	Small Intestine	intestine
3	chr11:74037800-74086200	Weak transcription	Brain Anterior Caudate	brain
4	chr11:74038000-74071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:74038000-74077400	Weak transcription	Psoas Muscle	Psoas
6	chr11:74038000-74077600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:74038000-74084400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:74038200-74058200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:74038200-74065000	Weak transcription	Aorta	Aorta
10	chr11:74038200-74071000	Weak transcription	Fetal Stomach	stomach
11	chr11:74038200-74071400	Weak transcription	Left Ventricle	heart
12	chr11:74038200-74071400	Weak transcription	Lung	lung
13	chr11:74038200-74082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:74038200-74084400	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:74038400-74084400	Weak transcription	Liver	Liver
16	chr11:74038400-74086200	Weak transcription	Adipose Nuclei	Adipose
17	chr11:74038600-74071400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:74038800-74070600	Weak transcription	Fetal Brain Male	brain
19	chr11:74039400-74071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:74039800-74066200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:74041800-74071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:74041800-74071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:74042000-74077600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:74042200-74065600	Weak transcription	Fetal Heart	heart
25	chr11:74042200-74081200	Weak transcription	Hela-S3	cervix
26	chr11:74043800-74058200	Weak transcription	Osteobl	bone
27	chr11:74044800-74062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:74044800-74079200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr11:74045800-74071400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:74045800-74073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:74046000-74071800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:74046800-74057200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:74046800-74060000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:74046800-74062600	Strong transcription	Fetal Thymus	thymus
35	chr11:74047000-74056800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:74047000-74056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:74047000-74058200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:74047200-74071200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:74047400-74056200	Strong transcription	Primary T cells from cord blood	blood
40	chr11:74047600-74056200	Strong transcription	Primary B cells from cord blood	blood
41	chr11:74047800-74068400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:74047800-74077600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:74048000-74070800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:74048400-74077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:74049400-74071800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:74049400-74080400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:74049600-74070800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:74049800-74077400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:74050400-74058400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:74050400-74070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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