Variant report

Variant	rs2649044
Chromosome Location	chr11:9763969-9763970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10743117	0.85[AMR][1000 genomes]
rs10743118	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10840294	0.83[AMR][1000 genomes]
rs10840295	0.86[AMR][1000 genomes]
rs10840296	0.83[AMR][1000 genomes]
rs173396	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs360136	0.86[AMR][1000 genomes]
rs360137	0.86[AMR][1000 genomes]
rs360139	0.80[ASN][1000 genomes]
rs360153	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs360156	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs360157	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs378825	0.86[AMR][1000 genomes]
rs472109	0.86[AMR][1000 genomes]
rs4910498	0.83[ASN][1000 genomes]
rs4910499	0.81[ASN][1000 genomes]
rs491205	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs93138	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs93139	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9943599	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9742200-9779400	Weak transcription	Fetal Brain Male	brain
2	chr11:9745000-9775600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:9749000-9764400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:9749000-9764400	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr11:9749400-9764400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:9749600-9764400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:9751000-9764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:9753800-9764400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:9754000-9764400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:9754200-9764400	Strong transcription	Adipose Nuclei	Adipose
11	chr11:9754400-9764400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:9754800-9764400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:9755000-9777600	Weak transcription	Colonic Mucosa	Colon
14	chr11:9755400-9769800	Weak transcription	Pancreas	Pancrea
15	chr11:9756600-9764400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:9756800-9764400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:9756800-9764400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9757400-9764600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:9757400-9766400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:9757400-9769200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:9757600-9774600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:9757800-9764400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:9757800-9764400	Strong transcription	Fetal Stomach	stomach
24	chr11:9758200-9764400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:9758400-9769800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:9758400-9769800	Weak transcription	Stomach Mucosa	stomach
27	chr11:9758800-9769800	Weak transcription	Brain Anterior Caudate	brain
28	chr11:9758800-9776000	Weak transcription	Brain Germinal Matrix	brain
29	chr11:9759200-9769400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:9759400-9764400	Strong transcription	NHDF-Ad	bronchial
31	chr11:9759600-9764400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:9759600-9764400	Strong transcription	NHLF	lung
33	chr11:9759800-9764400	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr11:9759800-9764400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr11:9760000-9764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:9760000-9764400	Strong transcription	Left Ventricle	heart
37	chr11:9760200-9764400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:9760200-9764400	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:9760200-9764400	Strong transcription	Lung	lung
40	chr11:9760200-9764400	Strong transcription	HSMMtube	muscle
41	chr11:9760200-9764400	Strong transcription	HUVEC	blood vessel
42	chr11:9760600-9769800	Weak transcription	Fetal Heart	heart
43	chr11:9761000-9764400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:9761000-9769400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:9761000-9777200	Weak transcription	Fetal Kidney	kidney
46	chr11:9761400-9764400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:9761400-9764400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:9761400-9764400	Strong transcription	Fetal Lung	lung
49	chr11:9761400-9764400	Strong transcription	NH-A	brain
50	chr11:9761600-9764400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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