Variant report

Variant	rs594090
Chromosome Location	chr11:68172102-68172103
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11605824	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs11606439	1.00[ASN][1000 genomes]
rs1210421	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1211560	0.81[AMR][1000 genomes]
rs1784235	0.86[YRI][hapmap]
rs1893003	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893209	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458262	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2472415	0.86[YRI][hapmap]
rs2510395	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs3736231	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545382	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546803	0.89[ASW][hapmap];0.96[YRI][hapmap]
rs576118	0.86[YRI][hapmap]
rs583545	0.86[YRI][hapmap]
rs587397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628433	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632605	1.00[CHD][hapmap];0.86[MEX][hapmap]
rs640569	0.86[YRI][hapmap]
rs67742204	0.82[ASN][1000 genomes]
rs678263	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931107	1.00[CHD][hapmap];0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68142600-68179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:68147400-68181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:68148600-68196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:68149200-68174000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:68149600-68180400	Weak transcription	NHLF	lung
6	chr11:68157200-68174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:68157200-68196600	Weak transcription	NH-A	brain
8	chr11:68157600-68180400	Weak transcription	Osteobl	bone
9	chr11:68158000-68173600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:68159200-68177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:68165800-68178400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:68166000-68173400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:68167200-68179600	Weak transcription	K562	blood
14	chr11:68167400-68173400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:68167400-68177600	Weak transcription	Brain Anterior Caudate	brain
16	chr11:68167600-68173400	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:68167600-68173800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:68167600-68177400	Weak transcription	Brain Substantia Nigra	brain
19	chr11:68167600-68177400	Weak transcription	Placenta	Placenta
20	chr11:68167800-68174000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:68167800-68178600	Weak transcription	Psoas Muscle	Psoas
22	chr11:68167800-68181000	Weak transcription	Small Intestine	intestine
23	chr11:68167800-68196600	Weak transcription	Fetal Brain Male	brain
24	chr11:68168400-68174400	Strong transcription	Fetal Brain Female	brain
25	chr11:68168400-68185000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:68168400-68189000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:68168600-68181400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:68168600-68188800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:68168600-68188800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:68168600-68193600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:68168600-68195600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:68168800-68172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:68168800-68172200	Strong transcription	Dnd41	blood
34	chr11:68169000-68174000	Strong transcription	Fetal Intestine Large	intestine
35	chr11:68169000-68193600	Strong transcription	Fetal Intestine Small	intestine
36	chr11:68169200-68180200	Strong transcription	Fetal Stomach	stomach
37	chr11:68169200-68180800	Strong transcription	Adipose Nuclei	Adipose
38	chr11:68169400-68172200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:68169400-68172200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:68169400-68172600	Strong transcription	HepG2	liver
41	chr11:68169400-68181400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:68169400-68181600	Strong transcription	Thymus	Thymus
43	chr11:68169400-68196600	Weak transcription	Right Atrium	heart
44	chr11:68169600-68172200	Strong transcription	Primary T cells from cord blood	blood
45	chr11:68169600-68172200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:68169600-68172400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:68169600-68172600	Strong transcription	Esophagus	oesophagus
48	chr11:68169600-68174600	Strong transcription	Brain Germinal Matrix	brain
49	chr11:68169600-68188200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:68169600-68196800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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