Variant report

Variant	rs58301639
Chromosome Location	chr11:46262205-46262206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
2	chr11:46257250..46262210-chr11:46367431..46371476,7	K562	blood:
3	chr11:46260567..46262219-chr11:46367373..46369497,2	MCF-7	breast:
4	chr11:46260713..46262608-chr11:46317046..46318896,2	MCF-7	breast:
5	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
6	chr11:46260302..46262662-chr11:46340066..46342667,3	K562	blood:
7	chr11:46259014..46262894-chr11:46335326..46342667,9	K562	blood:
8	chr11:46261971..46264910-chr11:46359526..46361231,2	K562	blood:
9	chr11:46261225..46262867-chr11:46390167..46391746,2	K562	blood:
10	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:
11	chr11:46260404..46262325-chr11:46311878..46313635,2	K562	blood:
12	chr11:46259601..46262600-chr11:46396117..46399053,2	K562	blood:
13	chr11:46134047..46136241-chr11:46260486..46262310,2	K562	blood:
14	chr11:46260902..46266382-chr11:46328727..46335057,8	K562	blood:
15	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
16	chr11:46198785..46200678-chr11:46260569..46262426,2	K562	blood:
17	chr11:46261574..46264285-chr11:46284540..46287123,3	K562	blood:
18	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
19	chr11:46260020..46262918-chr11:46267524..46269406,4	MCF-7	breast:
20	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
21	chr11:46260950..46263025-chr11:46364308..46367290,2	MCF-7	breast:
22	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
23	chr11:46262201..46264522-chr11:46292833..46295180,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157613	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000254653	Chromatin interaction
ENSG00000263539	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11605191	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28755875	1.00[ASN][1000 genomes]
rs35671387	1.00[ASN][1000 genomes]
rs58678374	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104451	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113170	0.96[ASN][1000 genomes]
rs7116965	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908086	0.82[ASN][1000 genomes]
rs72908089	0.86[ASN][1000 genomes]
rs72908091	0.86[ASN][1000 genomes]
rs72908092	0.86[ASN][1000 genomes]
rs72908096	0.86[ASN][1000 genomes]
rs72908098	0.86[ASN][1000 genomes]
rs72908102	0.86[ASN][1000 genomes]
rs72910006	0.96[ASN][1000 genomes]
rs72910027	0.82[ASN][1000 genomes]
rs7926726	1.00[ASN][1000 genomes]
rs7931075	1.00[ASN][1000 genomes]
rs7943808	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr11:46260400-46264400	Weak transcription	Small Intestine	intestine
2	chr11:46260800-46264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:46260800-46264200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:46260800-46264200	Weak transcription	Aorta	Aorta
5	chr11:46260800-46264200	Weak transcription	Fetal Kidney	kidney
6	chr11:46260800-46264400	Enhancers	Placenta	Placenta
7	chr11:46260800-46264800	Weak transcription	Gastric	stomach
8	chr11:46261000-46262800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:46261200-46263000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:46261200-46263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:46261200-46263800	Weak transcription	Fetal Lung	lung
12	chr11:46261200-46264000	Weak transcription	Brain Substantia Nigra	brain
13	chr11:46261200-46264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:46261200-46264200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:46261200-46264200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:46261200-46264200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:46261200-46264200	Weak transcription	Liver	Liver
18	chr11:46261200-46264200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:46261200-46264200	Weak transcription	Brain Anterior Caudate	brain
20	chr11:46261200-46264200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:46261200-46264200	Weak transcription	Esophagus	oesophagus
22	chr11:46261200-46264200	Weak transcription	Fetal Intestine Small	intestine
23	chr11:46261200-46264200	Weak transcription	Pancreas	Pancrea
24	chr11:46261200-46264200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:46261200-46264200	Weak transcription	Right Atrium	heart
26	chr11:46261200-46264200	Weak transcription	Spleen	Spleen
27	chr11:46261200-46264200	Weak transcription	GM12878-XiMat	blood
28	chr11:46261200-46264400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:46261200-46264400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:46261200-46264400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:46261200-46264400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:46261200-46264400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:46261200-46264400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:46261200-46264400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:46261200-46264400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:46261200-46264400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:46261200-46264400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:46261200-46264400	Weak transcription	Colonic Mucosa	Colon
39	chr11:46261200-46264400	Weak transcription	Left Ventricle	heart
40	chr11:46261200-46264400	Weak transcription	Lung	lung
41	chr11:46261200-46264400	Weak transcription	Ovary	ovary
42	chr11:46261200-46264400	Weak transcription	Psoas Muscle	Psoas
43	chr11:46261200-46264400	Weak transcription	Right Ventricle	heart
44	chr11:46261200-46264600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:46261400-46263000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr11:46261400-46263000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:46261400-46263000	Enhancers	NHEK	skin
48	chr11:46261400-46263400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:46261400-46263800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:46261400-46264000	Weak transcription	H1 Cell Line	embryonic stem cell

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