Variant report

Variant	rs680988
Chromosome Location	chr11:75260648-75260649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75258371..75261326-chr11:75265585..75267685,5	MCF-7	breast:
2	chr11:75257006..75261542-chr11:75285298..75289565,6	MCF-7	breast:
3	chr11:75258907..75261694-chr11:75269136..75271586,3	K562	blood:
4	chr11:75258598..75261334-chr11:75297615..75299560,2	K562	blood:
5	chr11:75257209..75261351-chr11:75271814..75277421,8	K562	blood:
6	chr11:75259014..75260783-chr11:75264965..75266656,2	K562	blood:

Variant related genes	Relation type
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10899093	0.92[ASN][1000 genomes]
rs10899094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612604	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1783553	0.91[ASN][1000 genomes]
rs4945015	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55669825	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs598186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs602516	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs617639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs659453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663660	1.00[ASN][1000 genomes]
rs687096	1.00[ASN][1000 genomes]
rs688487	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75246400-75265800	Weak transcription	Right Atrium	heart
2	chr11:75258800-75265800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:75259200-75261200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:75259200-75261400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:75259200-75261600	Weak transcription	Placenta	Placenta
6	chr11:75259200-75263800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:75259200-75263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:75259200-75264000	Weak transcription	Ovary	ovary
9	chr11:75259200-75264000	Weak transcription	NHLF	lung
10	chr11:75259200-75264400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:75259200-75264400	Weak transcription	Left Ventricle	heart
12	chr11:75259200-75264400	Weak transcription	NHDF-Ad	bronchial
13	chr11:75259200-75264600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:75259200-75264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:75259200-75264800	Weak transcription	Right Ventricle	heart
16	chr11:75259200-75265000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:75259200-75265200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:75259200-75265200	Weak transcription	Esophagus	oesophagus
19	chr11:75259200-75268000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:75259400-75263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:75259400-75263800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:75259400-75263800	Weak transcription	Adipose Nuclei	Adipose
23	chr11:75259400-75263800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:75259400-75264000	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:75259400-75264000	Weak transcription	Fetal Heart	heart
26	chr11:75259400-75264600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:75259400-75264600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:75259600-75263800	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:75259600-75263800	Weak transcription	Fetal Stomach	stomach
30	chr11:75259600-75264800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:75259600-75264800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:75259600-75264800	Weak transcription	Fetal Lung	lung
33	chr11:75259800-75263800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:75259800-75264600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:75259800-75264800	Weak transcription	Brain Angular Gyrus	brain
36	chr11:75259800-75264800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:75260000-75264400	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:75260000-75265000	Weak transcription	Brain Substantia Nigra	brain
39	chr11:75260200-75260800	Weak transcription	Fetal Brain Female	brain
40	chr11:75260200-75261000	Enhancers	GM12878-XiMat	blood
41	chr11:75260200-75265000	Weak transcription	Brain Anterior Caudate	brain
42	chr11:75260600-75260800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:75260600-75264000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:75260600-75264800	Weak transcription	K562	blood
45	chr11:75260600-75265200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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