Variant report

Variant	rs6591191
Chromosome Location	chr11:65586040-65586041
allele	C/G
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:65512073..65513878-chr11:65584260..65586150,2	MCF-7	breast:
2	chr11:65585441..65586341-chr11:65756284..65757099,4	MCF-7	breast:
3	chr11:65582084..65587022-chr11:65624038..65628577,11	MCF-7	breast:
4	chr11:65585571..65586255-chr11:65655557..65656089,2	K562	blood:
5	chr11:65585473..65586087-chr11:65769548..65770335,2	MCF-7	breast:
6	chr11:65511343..65512591-chr11:65585351..65586294,10	MCF-7	breast:
7	chr11:65546476..65549501-chr11:65584952..65586284,37	MCF-7	breast:
8	chr11:65585541..65586336-chr11:65756122..65757117,6	K562	blood:
9	chr11:65584486..65587354-chr11:65754171..65756928,3	K562	blood:
10	chr11:65545925..65552801-chr11:65581920..65586715,7	K562	blood:
11	chr11:65581685..65586123-chr11:65617566..65620999,8	K562	blood:
12	chr11:65554334..65555060-chr11:65585209..65586040,3	MCF-7	breast:
13	chr11:65478250..65482749-chr11:65583572..65587517,11	MCF-7	breast:
14	chr11:65546070..65548152-chr11:65584909..65587351,3	K562	blood:
15	chr11:65553472..65554428-chr11:65585631..65586383,2	MCF-7	breast:
16	chr11:65473094..65473941-chr11:65585447..65586171,2	MCF-7	breast:
17	chr11:65512051..65514239-chr11:65583382..65586329,2	K562	blood:
18	chr11:65584264..65587334-chr11:65598974..65601332,3	K562	blood:
19	chr11:65404876..65405790-chr11:65585299..65586202,3	K562	blood:
20	chr11:65478915..65480473-chr11:65585248..65586290,16	MCF-7	breast:
21	chr11:65578671..65581535-chr11:65584408..65587256,5	K562	blood:
22	chr11:65581909..65583491-chr11:65584242..65587282,3	K562	blood:
23	chr11:65552345..65559376-chr11:65580965..65587386,14	MCF-7	breast:
24	chr11:65342584..65344939-chr11:65585842..65587705,2	MCF-7	breast:
25	chr11:65478781..65480225-chr11:65585320..65586498,35	MCF-7	breast:
26	chr11:65478558..65482535-chr11:65584117..65589770,6	MCF-7	breast:
27	chr11:65585631..65586274-chr11:65623957..65624832,2	MCF-7	breast:
28	chr11:65537232..65538956-chr11:65585286..65587865,2	MCF-7	breast:
29	chr11:65486864..65487776-chr11:65585384..65586314,5	MCF-7	breast:
30	chr11:65511597..65512884-chr11:65585147..65586477,30	MCF-7	breast:
31	chr11:65546622..65548622-chr11:65584340..65586362,19	K562	blood:
32	chr11:65341332..65342152-chr11:65585406..65586216,3	K562	blood:
33	chr11:65392904..65393561-chr11:65585388..65586156,2	MCF-7	breast:
34	chr11:65536622..65537945-chr11:65585138..65586153,5	MCF-7	breast:
35	chr11:65536802..65537911-chr11:65585211..65586346,4	MCF-7	breast:
36	chr11:65546417..65548238-chr11:65584736..65586372,65	MCF-7	breast:
37	chr11:65583782..65587125-chr11:65623983..65628474,5	K562	blood:
38	chr11:65581909..65583782-chr11:65584242..65586830,2	K562	blood:
39	chr11:65478874..65480056-chr11:65585329..65586297,21	K562	blood:
40	chr11:65273468..65276593-chr11:65582844..65587199,4	K562	blood:
41	chr11:65478477..65481649-chr11:65584487..65588308,4	K562	blood:
42	chr11:65585292..65586157-chr11:65652120..65652737,3	K562	blood:
43	chr11:65473441..65474328-chr11:65585420..65586273,2	MCF-7	breast:
44	chr11:65543425..65544156-chr11:65585413..65586242,2	MCF-7	breast:
45	chr11:65541153..65542313-chr11:65585085..65586334,9	MCF-7	breast:
46	chr11:65585610..65586388-chr11:65651721..65652782,5	MCF-7	breast:
47	chr11:65585653..65586394-chr11:65655675..65656281,2	MCF-7	breast:
48	chr11:65541196..65542302-chr11:65585324..65586423,16	MCF-7	breast:
49	chr11:65341635..65342180-chr11:65585753..65586268,2	MCF-7	breast:
50	chr11:65548663..65549180-chr11:65585338..65586053,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175334	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000172803	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000255557	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175376	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10791825	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791826	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896049	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896053	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896055	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151515	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1204771	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1204772	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420336	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930162	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930322	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930325	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521004	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550976	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56169730	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58836187	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601887	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60678003	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895685	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621348	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs646675	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112754	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7113768	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114237	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72924752	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9971612	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65584200-65586200	Flanking Active TSS	Dnd41	blood
2	chr11:65584200-65586400	Enhancers	Fetal Heart	heart
3	chr11:65584400-65586200	Active TSS	Rectal Smooth Muscle	rectum
4	chr11:65584800-65586200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:65584800-65586200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:65584800-65586200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:65584800-65586200	Active TSS	Fetal Kidney	kidney
8	chr11:65584800-65586400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:65585000-65586200	Active TSS	Fetal Lung	lung
10	chr11:65585000-65586200	Active TSS	K562	blood
11	chr11:65585200-65586200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:65585200-65586200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:65585200-65586200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:65585200-65586200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:65585200-65586200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:65585200-65586200	Active TSS	Fetal Brain Female	brain
17	chr11:65585400-65586200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr11:65585600-65586200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:65585600-65586200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr11:65585800-65586200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:65585800-65586200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:65585800-65586200	Enhancers	Primary B cells from cord blood	blood
23	chr11:65585800-65586200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr11:65585800-65586200	Enhancers	Primary hematopoietic stem cells	blood
25	chr11:65585800-65586200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:65585800-65586200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:65585800-65586200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:65585800-65586200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:65585800-65586200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:65585800-65586200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:65585800-65586200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:65585800-65586200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:65585800-65586200	Enhancers	Brain Hippocampus Middle	brain
34	chr11:65585800-65586200	Enhancers	Colon Smooth Muscle	Colon
35	chr11:65585800-65586200	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr11:65585800-65586200	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr11:65585800-65586200	Enhancers	Placenta	Placenta
38	chr11:65585800-65586200	Enhancers	Fetal Thymus	thymus
39	chr11:65585800-65586200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr11:65585800-65586200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:65585800-65586400	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:65585800-65586400	Enhancers	Duodenum Mucosa	Duodenum
43	chr11:65585800-65586400	Enhancers	HepG2	liver
44	chr11:65585800-65586600	Weak transcription	Right Atrium	heart
45	chr11:65585800-65587200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:65585800-65587400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:65585800-65587400	Genic enhancers	Fetal Intestine Small	intestine
48	chr11:65585800-65587600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:65585800-65587800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:65585800-65588000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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