Variant report

Variant	rs512249
Chromosome Location	chr11:63423620-63423621
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63420251..63422552-chr11:63423247..63425956,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17158455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs480977	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs509932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv353	chr11:63411216-63428498	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63393800-63426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:63395000-63426800	Strong transcription	Dnd41	blood
3	chr11:63397800-63430800	Weak transcription	Fetal Brain Male	brain
4	chr11:63398800-63426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:63399000-63434000	Weak transcription	Small Intestine	intestine
6	chr11:63399200-63433800	Weak transcription	Fetal Heart	heart
7	chr11:63399800-63437800	Weak transcription	Fetal Brain Female	brain
8	chr11:63400400-63437600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:63400600-63431000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:63403400-63431000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:63403800-63427200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:63404000-63424400	Weak transcription	Esophagus	oesophagus
13	chr11:63407800-63426800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:63407800-63426800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:63407800-63427400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:63408400-63426800	Strong transcription	Hela-S3	cervix
17	chr11:63409600-63425600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:63410200-63425600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:63410800-63435000	Weak transcription	Stomach Mucosa	stomach
20	chr11:63411000-63435200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:63411000-63437800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:63411200-63424800	Weak transcription	Fetal Kidney	kidney
23	chr11:63411200-63437000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:63411400-63424400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:63411800-63430200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:63414600-63424400	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:63414600-63424800	Weak transcription	Aorta	Aorta
28	chr11:63414600-63435600	Weak transcription	Thymus	Thymus
29	chr11:63414600-63437400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:63414800-63426200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:63415800-63424200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:63416000-63427800	Weak transcription	Brain Angular Gyrus	brain
33	chr11:63417000-63427000	Strong transcription	Osteobl	bone
34	chr11:63417600-63426800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:63418000-63424000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr11:63418000-63426400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:63418000-63427400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:63418600-63424200	Weak transcription	Primary B cells from cord blood	blood
39	chr11:63418600-63435400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:63418600-63435400	Weak transcription	Colonic Mucosa	Colon
41	chr11:63418600-63437600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:63418600-63437600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:63418800-63435600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:63419000-63424200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:63419200-63424600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:63419200-63424600	Weak transcription	Spleen	Spleen
47	chr11:63419200-63424800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:63419200-63425800	Weak transcription	Placenta	Placenta
49	chr11:63419200-63428800	Weak transcription	Right Ventricle	heart
50	chr11:63419200-63430000	Weak transcription	Pancreas	Pancrea

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