Variant report

Variant	rs11605191
Chromosome Location	chr11:46264782-46264783
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46262681..46266586-chr11:46271092..46274649,4	MCF-7	breast:
2	chr1:17231333..17231967-chr11:46264658..46265339,2	NB4	blood:
3	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
4	chr11:46263626..46270809-chr11:46297011..46303055,11	K562	blood:
5	chr11:46140962..46145134-chr11:46264559..46267639,5	K562	blood:
6	chr11:46263673..46265397-chr11:46397060..46399611,2	K562	blood:
7	chr11:46263199..46264892-chr11:46372073..46373594,2	MCF-7	breast:
8	chr11:46264211..46266270-chr11:46367573..46370495,3	MCF-7	breast:
9	chr11:46148639..46152433-chr11:46264114..46268004,4	K562	blood:
10	chr11:46261971..46264910-chr11:46359526..46361231,2	K562	blood:
11	chr11:46263623..46265144-chr11:46301509..46304362,2	MCF-7	breast:
12	chr1:46216033..46216717-chr11:46264662..46265395,2	Hela-S3	cervix:
13	chr11:46264082..46266416-chr7:151375101..151377352,2	MCF-7	breast:
14	chr11:46264156..46266596-chr11:46279447..46282545,3	K562	blood:
15	chr11:46243733..46245784-chr11:46263716..46265600,2	K562	blood:
16	chr11:46263034..46268818-chr11:46367251..46371688,6	K562	blood:
17	chr11:46263532..46266439-chr11:46314699..46317339,4	MCF-7	breast:
18	chr11:46264685..46267972-chr11:46298654..46302418,5	K562	blood:
19	chr11:46263449..46265735-chr11:46337314..46338830,2	MCF-7	breast:
20	chr11:46264156..46266747-chr11:46279886..46281544,2	K562	blood:
21	chr11:46263045..46265873-chr11:46295785..46297445,2	MCF-7	breast:
22	chr11:46132224..46135042-chr11:46263015..46266575,4	K562	blood:
23	chr11:46255797..46257646-chr11:46263436..46265012,2	MCF-7	breast:
24	chr11:46263663..46266589-chr11:46322297..46324739,2	K562	blood:
25	chr11:46264505..46265338-chr13:21714501..21715207,2	NB4	blood:
26	chr1:158979182..158979808-chr11:46264417..46265215,2	Hela-S3	cervix:
27	chr11:46262370..46265982-chr11:46295406..46297667,3	MCF-7	breast:
28	chr11:46263737..46269397-chr11:46329982..46337819,11	K562	blood:
29	chr11:46263634..46265173-chr11:46350706..46352821,2	MCF-7	breast:
30	chr11:46260902..46266382-chr11:46328727..46335057,8	K562	blood:
31	chr11:46263412..46267230-chr11:46295489..46297894,3	K562	blood:
32	chr11:46258132..46262487-chr11:46262978..46267443,11	MCF-7	breast:
33	chr11:46263823..46266551-chr11:46357468..46359164,2	K562	blood:
34	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
35	chr11:45952509..45955320-chr11:46263473..46266230,2	MCF-7	breast:
36	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
37	chr11:46264430..46267699-chr11:46311283..46314197,3	K562	blood:
38	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
39	chr11:46263512..46266162-chr11:46400949..46402899,2	K562	blood:
40	chr11:46141561..46146352-chr11:46263499..46266463,7	MCF-7	breast:
41	chr11:46264390..46266191-chr11:46349248..46351838,2	K562	blood:
42	chr11:46242391..46244126-chr11:46262413..46265513,3	K562	blood:
43	chr1:97187532..97188205-chr11:46264654..46265306,2	Hela-S3	cervix:
44	chr11:45863403..45866148-chr11:46264573..46266399,2	MCF-7	breast:
45	chr11:46264754..46267699-chr11:46310847..46314197,3	K562	blood:
46	chr11:46142521..46144729-chr11:46264687..46266930,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction
ENSG00000254653	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000255007	Chromatin interaction
ENSG00000150459	Chromatin interaction
ENSG00000263539	Chromatin interaction
ENSG00000163565	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000264102	Chromatin interaction

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

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

rs_ID	r²[population]
rs28755875	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35671387	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58301639	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58678374	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7104451	1.00[ASN][1000 genomes]
rs7113170	0.96[ASN][1000 genomes]
rs7116965	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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931075	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46260800-46264800	Weak transcription	Gastric	stomach
2	chr11:46264000-46264800	Flanking Active TSS	Hela-S3	cervix
3	chr11:46264000-46264800	Flanking Active TSS	K562	blood
4	chr11:46264000-46264800	Flanking Active TSS	NHLF	lung
5	chr11:46264000-46265000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:46264200-46264800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:46264200-46264800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:46264200-46264800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:46264200-46264800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:46264200-46264800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:46264200-46264800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:46264200-46264800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:46264200-46264800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:46264200-46264800	Enhancers	Spleen	Spleen
15	chr11:46264200-46264800	Flanking Active TSS	Dnd41	blood
16	chr11:46264200-46264800	Flanking Active TSS	GM12878-XiMat	blood
17	chr11:46264200-46264800	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr11:46264200-46264800	Flanking Active TSS	HSMMtube	muscle
19	chr11:46264200-46264800	Flanking Active TSS	NHDF-Ad	bronchial
20	chr11:46264200-46265000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:46264200-46265600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:46264200-46265600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:46264200-46265600	Flanking Active TSS	HSMM	muscle
24	chr11:46264200-46265600	Flanking Active TSS	NHEK	skin
25	chr11:46264400-46264800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:46264400-46264800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:46264400-46264800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:46264400-46264800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:46264400-46264800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:46264400-46264800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:46264400-46264800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:46264400-46264800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:46264400-46264800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:46264400-46264800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:46264400-46264800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:46264400-46264800	Flanking Active TSS	Liver	Liver
37	chr11:46264400-46264800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr11:46264400-46264800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr11:46264400-46264800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr11:46264400-46264800	Flanking Active TSS	Colonic Mucosa	Colon
41	chr11:46264400-46264800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr11:46264400-46264800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr11:46264400-46264800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:46264400-46264800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr11:46264400-46264800	Flanking Active TSS	Fetal Heart	heart
46	chr11:46264400-46264800	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr11:46264400-46264800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr11:46264400-46264800	Flanking Active TSS	Placenta	Placenta
49	chr11:46264400-46264800	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr11:46264400-46264800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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