Variant report

Variant	rs2234993
Chromosome Location	chr11:108129599-108129600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10890838	1.00[CHB][hapmap]
rs11212497	1.00[AMR][1000 genomes]
rs11212517	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11212521	0.83[ASN][1000 genomes]
rs11212522	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11212533	1.00[AMR][1000 genomes]
rs11212534	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11212536	1.00[ASN][1000 genomes]
rs11212547	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11212548	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11212562	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11212563	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11212565	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11212567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212574	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212590	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11212595	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11212596	1.00[EUR][1000 genomes]
rs11212603	1.00[EUR][1000 genomes]
rs11212622	1.00[CHB][hapmap]
rs11212639	1.00[EUR][1000 genomes]
rs11212651	1.00[EUR][1000 genomes]
rs11212652	1.00[EUR][1000 genomes]
rs11212668	1.00[EUR][1000 genomes]
rs11212670	1.00[EUR][1000 genomes]
rs11212675	1.00[EUR][1000 genomes]
rs11512449	1.00[EUR][1000 genomes]
rs11518204	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12360724	1.00[EUR][1000 genomes]
rs12365364	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12365932	1.00[ASN][1000 genomes]
rs1800066	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2235005	1.00[AFR][1000 genomes]
rs3092910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218711	1.00[EUR][1000 genomes]
rs36076410	0.83[ASN][1000 genomes]
rs4987911	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4987947	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4988005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4988007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4988033	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4988047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4988063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58807621	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv898385	chr11:108123189-108165736	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
2	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
4	chr11:108096400-108156400	Weak transcription	NHLF	lung
5	chr11:108098400-108131600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
7	chr11:108101600-108130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:108104200-108130000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:108104200-108147400	Weak transcription	Gastric	stomach
10	chr11:108104600-108144000	Weak transcription	Lung	lung
11	chr11:108105600-108130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:108108200-108144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:108108400-108184800	Weak transcription	NHEK	skin
14	chr11:108108800-108147600	Weak transcription	Psoas Muscle	Psoas
15	chr11:108109600-108130600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:108112800-108131400	Strong transcription	Primary B cells from cord blood	blood
17	chr11:108113200-108130600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:108113600-108131800	Strong transcription	Dnd41	blood
19	chr11:108113800-108147200	Weak transcription	Aorta	Aorta
20	chr11:108114800-108130400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:108114800-108131800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:108115000-108132800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:108117000-108131400	Strong transcription	Liver	Liver
24	chr11:108117000-108131400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:108117200-108130400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:108117400-108130400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:108117400-108131400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:108117400-108131600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:108117400-108132200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:108117600-108131200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:108117600-108131400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:108117800-108130800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:108117800-108131200	Strong transcription	Placenta	Placenta
34	chr11:108117800-108131600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:108118200-108132200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:108118400-108131800	Strong transcription	Fetal Thymus	thymus
37	chr11:108118600-108132200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:108118600-108140200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:108118800-108131400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:108118800-108133000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:108119600-108132200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:108121000-108129800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:108121000-108131600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:108121200-108129600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:108121200-108129800	Strong transcription	Adipose Nuclei	Adipose
46	chr11:108121200-108131600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:108121200-108132800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr11:108121600-108131400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:108121600-108131400	Strong transcription	Brain Germinal Matrix	brain
50	chr11:108122000-108142200	Weak transcription	Right Ventricle	heart

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