Variant report

Variant	rs11891134
Chromosome Location	chr2:63148081-63148082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17027450	1.00[AMR][1000 genomes]
rs17027529	1.00[AMR][1000 genomes]
rs2068312	1.00[AMR][1000 genomes]
rs4487076	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57093504	1.00[AMR][1000 genomes]
rs59793326	1.00[AMR][1000 genomes]
rs72888917	1.00[AMR][1000 genomes]
rs72888961	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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63102600-63149800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:63102800-63150200	Weak transcription	Esophagus	oesophagus
3	chr2:63106000-63149600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:63106200-63149400	Weak transcription	Ovary	ovary
5	chr2:63107000-63150200	Weak transcription	HSMM	muscle
6	chr2:63108200-63149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:63108200-63149600	Weak transcription	Fetal Lung	lung
8	chr2:63122800-63166600	Weak transcription	HMEC	breast
9	chr2:63123000-63149400	Weak transcription	NHLF	lung
10	chr2:63123600-63148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:63123800-63149800	Weak transcription	NHEK	skin
12	chr2:63129400-63148800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:63131200-63148600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:63131400-63149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:63131600-63149400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:63133600-63149200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:63135400-63148600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:63139200-63149800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:63140400-63148400	Weak transcription	Adipose Nuclei	Adipose
20	chr2:63140600-63149600	Weak transcription	NHDF-Ad	bronchial
21	chr2:63142400-63190800	Weak transcription	Brain Angular Gyrus	brain
22	chr2:63144800-63149600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:63144800-63149800	Weak transcription	Fetal Heart	heart
24	chr2:63145000-63149800	Weak transcription	Osteobl	bone
25	chr2:63145000-63155400	Weak transcription	HUVEC	blood vessel
26	chr2:63145200-63150200	Weak transcription	Lung	lung
27	chr2:63145600-63152200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:63146400-63149000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:63146400-63150000	Weak transcription	Pancreas	Pancrea
30	chr2:63146600-63149400	Weak transcription	Left Ventricle	heart
31	chr2:63147000-63151200	Strong transcription	Liver	Liver
32	chr2:63147200-63151000	Weak transcription	NH-A	brain
33	chr2:63147200-63152000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:63147400-63149000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:63147400-63149800	Weak transcription	Primary T cells from cord blood	blood
36	chr2:63147400-63150000	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:63147600-63148600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:63147600-63148800	Weak transcription	A549	lung
39	chr2:63147600-63149400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:63147600-63149800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:63147800-63148200	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr2:63147800-63148600	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr2:63147800-63149400	Weak transcription	Right Ventricle	heart
44	chr2:63147800-63149800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:63147800-63151400	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr2:63147800-63151400	ZNF genes & repeats	Fetal Stomach	stomach
47	chr2:63147800-63154200	Weak transcription	K562	blood
48	chr2:63148000-63148400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:63148000-63149800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:63148000-63150600	Strong transcription	HepG2	liver

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