Variant report

Variant	rs572399316
Chromosome Location	chr11:17407412-17407413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
2	chr11:17407309..17407849-chr11:17525524..17526306,2	MCF-7	breast:
3	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
4	chr11:17373252..17376530-chr11:17405235..17408726,4	K562	blood:

Variant related genes	Relation type
ENSG00000260196	Chromatin interaction
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv482158	chr11:17406798-17410206	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 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	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
4	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:17397200-17407800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:17400600-17408000	Strong transcription	Fetal Intestine Small	intestine
13	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
14	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:17401000-17410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:17401600-17410200	Weak transcription	Hela-S3	cervix
17	chr11:17401600-17410200	Weak transcription	K562	blood
18	chr11:17401800-17410200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:17402000-17410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:17402000-17410200	Weak transcription	HMEC	breast
21	chr11:17402400-17407800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:17403000-17410400	Weak transcription	Aorta	Aorta
23	chr11:17403600-17408600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:17403800-17410400	Weak transcription	HSMMtube	muscle
25	chr11:17404000-17408000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:17404200-17410200	Weak transcription	HSMM	muscle
27	chr11:17404400-17407600	Weak transcription	Right Atrium	heart
28	chr11:17405000-17408600	Enhancers	Brain Angular Gyrus	brain
29	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
30	chr11:17405400-17407600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:17405400-17408200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:17405400-17409800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr11:17405600-17408800	Weak transcription	Esophagus	oesophagus
34	chr11:17405600-17409200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
35	chr11:17406000-17407800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:17406000-17408800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:17406000-17410200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:17406200-17407600	Enhancers	Pancreas	Pancrea
39	chr11:17406200-17407800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:17406200-17408400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:17406600-17408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:17406600-17408200	Active TSS	Brain Anterior Caudate	brain
43	chr11:17406800-17407600	Enhancers	Right Ventricle	heart
44	chr11:17407200-17407600	Enhancers	Left Ventricle	heart
45	chr11:17407200-17408200	Active TSS	Fetal Brain Female	brain
46	chr11:17407200-17408200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr11:17407200-17408200	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr11:17407200-17410200	Enhancers	Lung	lung
49	chr11:17407400-17407600	Active TSS	Gastric	stomach
50	chr11:17407400-17407800	Flanking Active TSS	Fetal Heart	heart

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