Variant report

Variant	rs160517
Chromosome Location	chr11:68128293-68128294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs160607	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs178352	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312778	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs312779	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs312780	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs312782	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs312783	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs312784	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs312785	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs312788	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs312790	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs312791	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs312792	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs314761	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs314775	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs314776	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs643981	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74744	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs91285	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:68114000-68129600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:68114800-68138000	Weak transcription	Fetal Kidney	kidney
5	chr11:68115400-68135200	Strong transcription	HepG2	liver
6	chr11:68121600-68131200	Strong transcription	Fetal Intestine Large	intestine
7	chr11:68121600-68148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:68121800-68137400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:68122000-68137800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:68122200-68139800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:68122600-68138200	Weak transcription	HUVEC	blood vessel
13	chr11:68122800-68129400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:68122800-68137200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:68123200-68132400	Weak transcription	Stomach Mucosa	stomach
16	chr11:68123200-68136800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:68123200-68137000	Weak transcription	Psoas Muscle	Psoas
18	chr11:68123200-68137200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:68123200-68139600	Weak transcription	Brain Substantia Nigra	brain
20	chr11:68123400-68132400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:68123400-68136000	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:68124000-68129800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr11:68124000-68137400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr11:68124800-68146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:68125000-68128400	Strong transcription	Fetal Brain Female	brain
26	chr11:68125000-68128400	Strong transcription	Gastric	stomach
27	chr11:68125000-68128400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:68125000-68129600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:68125200-68128400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:68125200-68136000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:68125400-68128400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:68125400-68129600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:68125800-68128400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:68125800-68136000	Strong transcription	Right Ventricle	heart
35	chr11:68126000-68130800	Strong transcription	Adipose Nuclei	Adipose
36	chr11:68126000-68136600	Weak transcription	Right Atrium	heart
37	chr11:68126200-68131800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:68126200-68136200	Strong transcription	Liver	Liver
39	chr11:68126200-68136800	Weak transcription	Fetal Heart	heart
40	chr11:68126600-68129400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:68126600-68129400	Weak transcription	Hela-S3	cervix
42	chr11:68126600-68130800	Strong transcription	Brain Germinal Matrix	brain
43	chr11:68126600-68131600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:68126600-68132400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:68126600-68137200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:68126600-68137600	Weak transcription	NHLF	lung
47	chr11:68126800-68128400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr11:68126800-68131600	Strong transcription	Fetal Intestine Small	intestine
49	chr11:68126800-68133400	Weak transcription	Small Intestine	intestine
50	chr11:68126800-68135400	Weak transcription	HMEC	breast

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