Variant report

Variant	rs2085020
Chromosome Location	chr11:9505850-9505851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9498298..9500683-chr11:9505385..9507215,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11042376	0.98[EUR][1000 genomes]
rs11042382	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042400	0.92[EUR][1000 genomes]
rs12361328	0.89[EUR][1000 genomes]
rs12362894	0.81[EUR][1000 genomes]
rs12363308	0.83[EUR][1000 genomes]
rs12363816	0.89[EUR][1000 genomes]
rs1377669	0.92[EUR][1000 genomes]
rs2313090	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55697083	0.85[EUR][1000 genomes]
rs7127020	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72851888	0.85[EUR][1000 genomes]
rs72851902	0.85[EUR][1000 genomes]
rs72852991	0.92[EUR][1000 genomes]
rs72854139	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv7670	chr11:9500895-9514750	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3511643	chr11:9502176-9510124	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3511644	chr11:9502576-9510074	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3511645	chr11:9502576-9510074	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2486941	chr11:9502781-9509444	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3511642	chr11:9502810-9509629	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv19833	chr11:9503476-9508855	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
4	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9491400-9506200	Strong transcription	Liver	Liver
7	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:9492000-9506000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:9492800-9507800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
14	chr11:9493200-9506600	Strong transcription	Fetal Intestine Small	intestine
15	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:9496200-9520000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:9496200-9522600	Weak transcription	Fetal Heart	heart
18	chr11:9496600-9507000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:9496600-9516000	Weak transcription	Fetal Brain Male	brain
20	chr11:9496600-9517000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:9497400-9517400	Weak transcription	Small Intestine	intestine
23	chr11:9498800-9506200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:9499200-9506000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:9499200-9506200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:9499200-9507800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:9499200-9508200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:9499400-9506000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:9499400-9507800	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:9499600-9507800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:9499800-9508200	Strong transcription	Fetal Intestine Large	intestine
33	chr11:9500200-9507000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:9500200-9510600	Weak transcription	HSMMtube	muscle
35	chr11:9500200-9516000	Weak transcription	Pancreas	Pancrea
36	chr11:9500400-9522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:9500600-9519800	Weak transcription	A549	lung
38	chr11:9501400-9512400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:9501400-9522600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:9501600-9506800	Weak transcription	HSMM	muscle
41	chr11:9501600-9507200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:9501600-9509400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:9501600-9517400	Weak transcription	Esophagus	oesophagus
44	chr11:9501600-9519800	Weak transcription	Fetal Kidney	kidney
45	chr11:9501800-9506200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:9501800-9507000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:9501800-9509200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:9501800-9510400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:9501800-9510400	Weak transcription	NHEK	skin
50	chr11:9501800-9510600	Weak transcription	HUVEC	blood vessel

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