Variant report

Variant	rs12291985
Chromosome Location	chr11:36075696-36075697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10836484	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033383	0.91[ASN][1000 genomes]
rs11033387	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033397	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs262454	0.88[ASN][1000 genomes]
rs34365273	0.88[ASN][1000 genomes]
rs35725524	0.90[ASN][1000 genomes]
rs7124427	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7936667	0.88[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	nsv832122	chr11:35933760-36103748	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv897224	chr11:36059983-36114348	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36058800-36093800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:36059400-36082000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:36059800-36078600	Weak transcription	HSMM	muscle
4	chr11:36060200-36079400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:36060200-36087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:36060400-36076200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:36063600-36087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:36065600-36078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:36069200-36078200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:36069800-36078600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:36070000-36077000	Weak transcription	Brain Germinal Matrix	brain
12	chr11:36070000-36094000	Weak transcription	Psoas Muscle	Psoas
13	chr11:36071800-36076400	Weak transcription	Fetal Kidney	kidney
14	chr11:36072000-36075800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:36072000-36081000	Weak transcription	Spleen	Spleen
16	chr11:36072200-36077000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:36072200-36078400	Weak transcription	Fetal Heart	heart
18	chr11:36072600-36087000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:36072800-36076200	Weak transcription	Ovary	ovary
20	chr11:36072800-36077400	Enhancers	Fetal Muscle Leg	muscle
21	chr11:36073000-36076200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:36073000-36076400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:36073000-36080600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:36073400-36076200	Enhancers	Brain Anterior Caudate	brain
25	chr11:36073400-36076800	Enhancers	Fetal Brain Male	brain
26	chr11:36073600-36078200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:36073800-36078200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:36073800-36087000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:36073800-36088400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:36073800-36099800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:36074000-36078200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:36074000-36078200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:36074000-36078200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:36074000-36078200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:36074200-36076400	Enhancers	Fetal Stomach	stomach
36	chr11:36074200-36077200	Enhancers	Brain Hippocampus Middle	brain
37	chr11:36074200-36078200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:36074200-36079800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:36074200-36081000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:36074200-36088400	Weak transcription	HSMMtube	muscle
41	chr11:36074400-36076200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:36074400-36076600	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:36074600-36076600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:36074600-36076800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:36075000-36076200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:36075000-36076200	Enhancers	Fetal Lung	lung
47	chr11:36075000-36076600	Enhancers	Brain Substantia Nigra	brain
48	chr11:36075200-36075800	Enhancers	Fetal Brain Female	brain
49	chr11:36075200-36076200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:36075200-36076600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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