Variant report

Variant	rs530188681
Chromosome Location	chr11:85894271-85894272
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85894174..85895049-chr11:85903549..85904117,2	Hela-S3	cervix:
2	chr11:85849886..85854014-chr11:85893559..85897041,3	K562	blood:
3	chr11:85872408..85874802-chr11:85892436..85894621,2	K562	blood:
4	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
5	chr11:85780298..85782257-chr11:85893128..85895149,2	K562	blood:
6	chr11:85753896..85756405-chr11:85894218..85896804,2	K562	blood:
7	chr11:85836520..85838381-chr11:85894260..85896246,2	K562	blood:
8	chr11:85777970..85780029-chr11:85892784..85894439,2	K562	blood:
9	chr11:85890926..85895677-chr11:85901056..85906162,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254699	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2757460	chr11:85869944-85905513	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759846	chr11:85869944-85905513	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040400	chr11:85883303-85898809	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1043422	chr11:85883840-85898809	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1049658	chr11:85885461-85898809	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1049881	chr11:85885684-85898809	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv555645	chr11:85886994-85898770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv2760233	chr11:85887957-85899812	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv8851	chr11:85888397-85899580	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv999880	chr11:85888638-85902307	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv3471552	chr11:85888769-85899564	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv3471563	chr11:85888947-85899377	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	esv999639	chr11:85889185-85898814	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv992965	chr11:85889435-85899023	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv514637	chr11:85889632-85898584	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv988186	chr11:85889658-85898821	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv2421379	chr11:85889658-85898821	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv442624	chr11:85889658-85898821	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv517382	chr11:85890389-85894451	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv555646	chr11:85890389-85894451	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv818853	chr11:85890389-85894451	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv555647	chr11:85890389-85895909	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv555648	chr11:85890389-85897774	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv555649	chr11:85890389-85898178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	nsv555650	chr11:85890389-85898770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	nsv555651	chr11:85890389-85900117	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
30	nsv555652	chr11:85891148-85895909	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	nsv555653	chr11:85891148-85898178	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	nsv555654	chr11:85891148-85898770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv555655	chr11:85891661-85895909	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv555656	chr11:85891661-85897261	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	nsv555657	chr11:85891661-85898178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	nsv555658	chr11:85891661-85898770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	nsv555659	chr11:85891661-85900117	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
38	nsv555660	chr11:85891661-85905715	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
39	nsv555661	chr11:85892483-85897261	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
40	nsv555662	chr11:85892483-85898770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
41	nsv555663	chr11:85893051-85898178	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
42	nsv555664	chr11:85893051-85898770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85885200-85895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:85886000-85903000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:85887200-85898000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:85888800-85895600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:85888800-85896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:85889000-85895800	Weak transcription	Psoas Muscle	Psoas
7	chr11:85889400-85895200	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:85890600-85894400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:85890600-85895800	Weak transcription	Ovary	ovary
10	chr11:85890800-85895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:85890800-85895800	Weak transcription	Left Ventricle	heart
12	chr11:85891000-85895600	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:85891200-85894800	Weak transcription	Osteobl	bone
14	chr11:85892000-85895600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:85892200-85894400	Weak transcription	Primary B cells from cord blood	blood
16	chr11:85892200-85895000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:85892200-85895600	Weak transcription	Brain Substantia Nigra	brain
18	chr11:85892400-85894400	Weak transcription	Adipose Nuclei	Adipose
19	chr11:85893000-85896800	Enhancers	Fetal Intestine Small	intestine
20	chr11:85893400-85895000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:85893400-85895200	Enhancers	HMEC	breast
22	chr11:85893400-85896200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:85893400-85896800	Enhancers	Fetal Intestine Large	intestine
24	chr11:85893600-85895200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:85893800-85895000	Flanking Active TSS	K562	blood
26	chr11:85893800-85895200	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:85893800-85895200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:85893800-85895200	Enhancers	NHEK	skin
29	chr11:85893800-85895600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:85893800-85896200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:85894000-85894400	Enhancers	Pancreas	Pancrea
32	chr11:85894000-85894400	Enhancers	Stomach Mucosa	stomach
33	chr11:85894000-85894400	Enhancers	A549	lung
34	chr11:85894000-85894600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:85894000-85894600	Enhancers	Thymus	Thymus
36	chr11:85894000-85894800	Enhancers	Esophagus	oesophagus
37	chr11:85894000-85894800	Flanking Active TSS	Hela-S3	cervix
38	chr11:85894000-85894800	Enhancers	NH-A	brain
39	chr11:85894000-85895000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr11:85894000-85895000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:85894000-85895000	Enhancers	Right Atrium	heart
42	chr11:85894000-85895200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:85894000-85895200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:85894000-85895200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr11:85894000-85895200	Enhancers	Lung	lung
46	chr11:85894000-85895400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:85894000-85896000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:85894000-85896200	Enhancers	Placenta	Placenta
49	chr11:85894200-85894400	Enhancers	HepG2	liver
50	chr11:85894200-85894600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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