Variant report

Variant	rs3136509
Chromosome Location	chr11:46759791-46759792
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:8)

rs_ID	r²[population]
rs3136430	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3136484	1.00[AFR][1000 genomes]
rs3136501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3136503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56816820	1.00[AMR][1000 genomes]
rs7342145	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7937765	0.84[AFR][1000 genomes]
rs7938644	0.81[AFR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46746000-46762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46746200-46761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:46746200-46761400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:46749800-46764000	Weak transcription	Aorta	Aorta
5	chr11:46750000-46762800	Weak transcription	Spleen	Spleen
6	chr11:46751200-46760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:46751200-46761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:46751200-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:46751400-46760200	Weak transcription	A549	lung
10	chr11:46751400-46760400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:46751400-46762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:46752000-46760200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:46752000-46762800	Weak transcription	Gastric	stomach
14	chr11:46752000-46763400	Weak transcription	Esophagus	oesophagus
15	chr11:46753000-46786600	Weak transcription	Right Atrium	heart
16	chr11:46757400-46762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:46757400-46762800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:46757800-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:46757800-46762800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:46758000-46761400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:46758000-46762600	Weak transcription	Fetal Brain Female	brain
22	chr11:46758200-46761200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:46758200-46761200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:46758200-46763200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:46758400-46760400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:46758400-46760400	Weak transcription	Fetal Stomach	stomach
27	chr11:46758400-46762400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:46758400-46762800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:46758400-46763400	Strong transcription	HepG2	liver
30	chr11:46758600-46762800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:46758800-46760600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:46758800-46762600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:46758800-46762600	Weak transcription	HUVEC	blood vessel
34	chr11:46758800-46762600	Weak transcription	Osteobl	bone
35	chr11:46758800-46762800	Weak transcription	HMEC	breast
36	chr11:46759000-46762600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:46759000-46762600	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:46759000-46762600	Weak transcription	Thymus	Thymus
39	chr11:46759000-46762800	Weak transcription	Primary B cells from cord blood	blood
40	chr11:46759000-46762800	Weak transcription	Pancreas	Pancrea
41	chr11:46759000-46762800	Weak transcription	Hela-S3	cervix
42	chr11:46759000-46763200	Weak transcription	NHLF	lung
43	chr11:46759000-46768000	Strong transcription	Liver	Liver
44	chr11:46759400-46761400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:46759400-46762600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:46759400-46762800	Weak transcription	Lung	lung
47	chr11:46759400-46762800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:46759400-46763200	Weak transcription	NHEK	skin
49	chr11:46759600-46759800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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