Variant report

Variant	rs531108688
Chromosome Location	chr11:17405062-17405063
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
2	chr11:17404945..17405792-chr11:17525735..17526346,2	MCF-7	breast:
3	chr11:17403171..17405241-chr11:17406430..17408298,2	MCF-7	breast:
4	chr11:17251318..17252261-chr11:17405052..17406043,5	MCF-7	breast:
5	chr11:17399571..17401205-chr11:17403779..17406500,2	K562	blood:
6	chr11:17403459..17406167-chr11:17526057..17528257,2	K562	blood:
7	chr11:17404201..17406453-chr11:17548482..17550709,2	K562	blood:
8	chr11:17405017..17406217-chr11:17525833..17526983,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1-239B22.1.1-1	chr11:17402196-17405078	ENSG00000260196.1
2	lnc-RP1-239B22.1.1-1	chr11:17402953-17405078	NONHSAT018230

No data

Variant related genes	Relation type
ENSG00000187486	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv897018	chr11:17403639-17417337	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:17394400-17410200	Weak transcription	A549	lung
3	chr11:17395200-17405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:17395200-17405800	Weak transcription	Gastric	stomach
5	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
6	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
7	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:17395800-17405200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:17395800-17405400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:17395800-17405400	Weak transcription	Left Ventricle	heart
12	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:17397200-17407800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:17398400-17405400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
19	chr11:17400600-17408000	Strong transcription	Fetal Intestine Small	intestine
20	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
21	chr11:17400800-17407200	Weak transcription	Fetal Brain Female	brain
22	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:17401000-17405600	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:17401000-17410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:17401200-17405200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:17401200-17405400	Weak transcription	Psoas Muscle	Psoas
27	chr11:17401200-17407200	Weak transcription	Lung	lung
28	chr11:17401600-17405200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:17401600-17405200	Strong transcription	Dnd41	blood
30	chr11:17401600-17410200	Weak transcription	Hela-S3	cervix
31	chr11:17401600-17410200	Weak transcription	K562	blood
32	chr11:17401800-17405200	Weak transcription	NHEK	skin
33	chr11:17401800-17405400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:17401800-17405600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:17401800-17407400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:17401800-17407400	Weak transcription	HepG2	liver
37	chr11:17401800-17410200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:17402000-17410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:17402000-17410200	Weak transcription	HMEC	breast
40	chr11:17402400-17407800	Weak transcription	Fetal Intestine Large	intestine
41	chr11:17403000-17405400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:17403000-17410400	Weak transcription	Aorta	Aorta
43	chr11:17403200-17405200	Weak transcription	Fetal Brain Male	brain
44	chr11:17403200-17406200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:17403600-17408600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:17403800-17405200	Weak transcription	Esophagus	oesophagus
47	chr11:17403800-17410400	Weak transcription	HSMMtube	muscle
48	chr11:17404000-17408000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:17404200-17405600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:17404200-17405600	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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