Variant report

Variant	rs11234522
Chromosome Location	chr11:85749579-85749580
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10501603	1.00[ASN][1000 genomes]
rs10501606	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10898429	1.00[AMR][1000 genomes]
rs10898431	1.00[ASN][1000 genomes]
rs11234441	1.00[ASN][1000 genomes]
rs11234482	1.00[AMR][1000 genomes]
rs11234484	1.00[AMR][1000 genomes]
rs11234489	1.00[ASN][1000 genomes]
rs11234490	1.00[AMR][1000 genomes]
rs11234492	1.00[ASN][1000 genomes]
rs11234496	1.00[ASN][1000 genomes]
rs11234498	1.00[AMR][1000 genomes]
rs11234502	1.00[ASN][1000 genomes]
rs11234506	1.00[AMR][1000 genomes]
rs11234509	1.00[AMR][1000 genomes]
rs11234512	1.00[ASN][1000 genomes]
rs11234513	1.00[ASN][1000 genomes]
rs11234516	1.00[AMR][1000 genomes]
rs11234517	1.00[ASN][1000 genomes]
rs11234521	1.00[AMR][1000 genomes]
rs11234526	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234527	1.00[AMR][1000 genomes]
rs11234528	1.00[AMR][1000 genomes]
rs11234529	1.00[AMR][1000 genomes]
rs11234530	1.00[AMR][1000 genomes]
rs11234553	1.00[AMR][1000 genomes]
rs11234557	1.00[AMR][1000 genomes]
rs11825378	1.00[ASN][1000 genomes]
rs11825912	1.00[ASN][1000 genomes]
rs11828161	1.00[ASN][1000 genomes]
rs12270430	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270938	1.00[AMR][1000 genomes]
rs12272711	1.00[AMR][1000 genomes]
rs12276323	1.00[AMR][1000 genomes]
rs12278254	1.00[AMR][1000 genomes]
rs12278260	1.00[ASN][1000 genomes]
rs12279581	1.00[ASN][1000 genomes]
rs12280026	1.00[AMR][1000 genomes]
rs12281958	1.00[ASN][1000 genomes]
rs12283011	1.00[AMR][1000 genomes]
rs12283160	1.00[AMR][1000 genomes]
rs12283400	1.00[AMR][1000 genomes]
rs12283463	1.00[AMR][1000 genomes]
rs12283835	1.00[AMR][1000 genomes]
rs12286862	1.00[AMR][1000 genomes]
rs12287170	1.00[ASN][1000 genomes]
rs12288262	1.00[AMR][1000 genomes]
rs12290708	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292101	1.00[AMR][1000 genomes]
rs12293426	1.00[AMR][1000 genomes]
rs12295435	1.00[AMR][1000 genomes]
rs13377593	1.00[AMR][1000 genomes]
rs17148600	1.00[ASN][1000 genomes]
rs17745153	1.00[ASN][1000 genomes]
rs17745236	1.00[ASN][1000 genomes]
rs17817588	1.00[ASN][1000 genomes]
rs17817919	1.00[ASN][1000 genomes]
rs41381550	1.00[ASN][1000 genomes]
rs4944552	1.00[ASN][1000 genomes]
rs57125313	1.00[ASN][1000 genomes]
rs59019168	1.00[ASN][1000 genomes]
rs59104711	1.00[ASN][1000 genomes]
rs60253048	1.00[ASN][1000 genomes]
rs60264644	1.00[ASN][1000 genomes]
rs60737637	1.00[ASN][1000 genomes]
rs61535933	1.00[ASN][1000 genomes]
rs72951268	1.00[ASN][1000 genomes]
rs72959177	1.00[ASN][1000 genomes]
rs72959197	1.00[ASN][1000 genomes]
rs72963077	1.00[ASN][1000 genomes]
rs72965157	1.00[ASN][1000 genomes]
rs9804530	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv468769	chr11:85683554-85757589	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv555641	chr11:85683554-85757589	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv468770	chr11:85688209-85751883	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv555642	chr11:85688209-85751883	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv468771	chr11:85688209-85757589	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv468773	chr11:85688209-85757589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv555643	chr11:85688209-85757589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85731600-85754200	Weak transcription	Brain Germinal Matrix	brain
2	chr11:85733200-85754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:85737000-85752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:85737200-85751800	Weak transcription	NHLF	lung
5	chr11:85737200-85755200	Weak transcription	Lung	lung
6	chr11:85737200-85755600	Weak transcription	Esophagus	oesophagus
7	chr11:85738400-85752400	Weak transcription	Fetal Kidney	kidney
8	chr11:85738800-85752000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:85740400-85751800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:85740400-85755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:85740600-85750400	Weak transcription	Colonic Mucosa	Colon
12	chr11:85740600-85752600	Weak transcription	NHEK	skin
13	chr11:85740800-85754000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:85741400-85751800	Weak transcription	HMEC	breast
15	chr11:85742000-85752000	Weak transcription	NHDF-Ad	bronchial
16	chr11:85742000-85752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:85742200-85750000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:85742200-85750000	Weak transcription	Thymus	Thymus
19	chr11:85742200-85751800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:85742200-85754000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:85742200-85755000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:85742200-85755400	Weak transcription	Aorta	Aorta
23	chr11:85742400-85751800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:85742400-85752000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:85742400-85752400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:85742400-85752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:85742400-85752800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:85742600-85751800	Weak transcription	Fetal Lung	lung
29	chr11:85742600-85751800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr11:85742600-85752400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:85742600-85752800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:85742600-85752800	Weak transcription	Dnd41	blood
33	chr11:85742600-85753800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:85742600-85754000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:85742600-85755600	Weak transcription	Placenta	Placenta
36	chr11:85742800-85758400	Weak transcription	Fetal Intestine Large	intestine
37	chr11:85743000-85752600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:85744600-85752000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:85744800-85751800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:85744800-85752200	Weak transcription	Primary B cells from cord blood	blood
41	chr11:85744800-85753000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:85744800-85753800	Weak transcription	Ovary	ovary
43	chr11:85745600-85751400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:85745800-85751600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:85746000-85751200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:85746000-85751800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:85746200-85751600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:85746200-85751600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:85746200-85751600	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:85746200-85751800	Weak transcription	Primary T cells from cord blood	blood

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