Variant report

Variant	rs4988009
Chromosome Location	chr11:108163918-108163919
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10890833	0.91[YRI][hapmap]
rs11212588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212611	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212657	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs11212673	1.00[AMR][1000 genomes]
rs11822807	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs12270808	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271975	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272964	0.83[AFR][1000 genomes]
rs12274473	1.00[AMR][1000 genomes]
rs12291754	1.00[AMR][1000 genomes]
rs12292677	1.00[AMR][1000 genomes]
rs12293324	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2235003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4987908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4987972	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988000	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988027	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988034	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988056	1.00[AFR][1000 genomes]
rs4988074	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59333417	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv1821877	chr11:108158134-108219339	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108108400-108184800	Weak transcription	NHEK	skin
3	chr11:108131800-108209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:108137800-108212000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:108138400-108209400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:108139200-108208200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:108141200-108181800	Weak transcription	Small Intestine	intestine
8	chr11:108143000-108175800	Weak transcription	Right Ventricle	heart
9	chr11:108143000-108186600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:108143800-108175400	Weak transcription	Fetal Brain Male	brain
11	chr11:108144000-108168200	Weak transcription	Hela-S3	cervix
12	chr11:108144400-108165400	Weak transcription	Brain Substantia Nigra	brain
13	chr11:108144400-108200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:108145800-108174400	Weak transcription	A549	lung
15	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:108147200-108210800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
18	chr11:108148600-108166200	Weak transcription	Lung	lung
19	chr11:108148600-108202600	Weak transcription	Psoas Muscle	Psoas
20	chr11:108148600-108208800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:108148600-108225600	Weak transcription	Gastric	stomach
22	chr11:108149200-108208600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:108149400-108211200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:108149600-108181800	Weak transcription	Aorta	Aorta
25	chr11:108149600-108209000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:108149600-108209600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:108150200-108208800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:108151000-108176400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:108151200-108164600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:108151400-108164600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:108151400-108172000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:108151400-108210000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:108151600-108169200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:108151600-108188600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:108152400-108171800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:108153200-108181600	Weak transcription	Pancreas	Pancrea
37	chr11:108154000-108181800	Weak transcription	Thymus	Thymus
38	chr11:108154000-108193600	Weak transcription	Colonic Mucosa	Colon
39	chr11:108154600-108186600	Weak transcription	K562	blood
40	chr11:108155800-108167200	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:108155800-108168200	Weak transcription	Fetal Kidney	kidney
42	chr11:108155800-108173600	Weak transcription	Brain Angular Gyrus	brain
43	chr11:108156000-108174000	Weak transcription	HUVEC	blood vessel
44	chr11:108156000-108175400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:108156800-108165800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:108156800-108165800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:108158000-108171800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:108158200-108209800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:108158600-108176600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:108159000-108168200	Weak transcription	HMEC	breast

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