Variant report

Variant	rs550217611
Chromosome Location	chr15:41234430-41234431
allele	A/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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41234021..41234626-chr15:41310647..41311276,2	MCF-7	breast:
2	chr15:41196280..41196828-chr15:41233825..41234733,2	K562	blood:
3	chr15:41233383..41235115-chr15:41239344..41241397,2	MCF-7	breast:
4	chr15:41232489..41235569-chr15:41253295..41255593,3	MCF-7	breast:
5	chr15:40886274..40887836-chr15:41232537..41234993,2	K562	blood:
6	chr15:41232946..41236246-chr15:41262141..41265286,3	MCF-7	breast:
7	chr15:40978878..40981252-chr15:41232643..41234691,2	MCF-7	breast:
8	chr15:41234066..41235999-chr15:41310279..41312553,2	MCF-7	breast:
9	chr15:41193554..41195434-chr15:41232672..41235208,2	K562	blood:
10	chr11:62608653..62609556-chr15:41233703..41234613,3	HCT-116	colon:
11	chr15:41234112..41234673-chr15:41314434..41315104,2	MCF-7	breast:
12	chr15:41196058..41200363-chr15:41232746..41236796,6	MCF-7	breast:
13	chr15:41195653..41200412-chr15:41230792..41235632,4	MCF-7	breast:
14	chr15:41221907..41222892-chr15:41234199..41234770,2	K562	blood:
15	chr15:41232897..41235509-chr15:41313138..41315009,3	MCF-7	breast:
16	chr15:41216351..41218911-chr15:41231824..41234826,3	MCF-7	breast:
17	chr15:41231034..41235223-chr15:41248876..41252149,4	MCF-7	breast:
18	chr15:41233061..41238851-chr15:41242514..41246532,9	MCF-7	breast:
19	chr15:41232446..41235218-chr15:41255104..41257063,2	K562	blood:
20	chr15:41231932..41234904-chr15:41266157..41268211,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251161	Chromatin interaction
ENSG00000259405	Chromatin interaction
ENSG00000137812	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000133316	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	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	esv3327396	chr15:41232885-41235433	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 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	chr15:41232400-41235000	Enhancers	Fetal Brain Male	brain
2	chr15:41232400-41235400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:41233000-41234600	Active TSS	Rectal Smooth Muscle	rectum
4	chr15:41233200-41234600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr15:41233200-41234600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr15:41233200-41235000	Flanking Active TSS	Colonic Mucosa	Colon
7	chr15:41233400-41235000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr15:41233600-41234600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr15:41233600-41234600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:41233600-41234600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:41233600-41234600	Active TSS	Fetal Brain Female	brain
12	chr15:41233600-41234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:41233600-41234800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:41233600-41234800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr15:41233600-41234800	Active TSS	Lung	lung
16	chr15:41233600-41234800	Active TSS	Ovary	ovary
17	chr15:41233600-41234800	Flanking Active TSS	HMEC	breast
18	chr15:41233600-41234800	Active TSS	HSMMtube	muscle
19	chr15:41233600-41235000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr15:41233600-41235000	Active TSS	Right Atrium	heart
21	chr15:41233600-41235000	Active TSS	A549	lung
22	chr15:41233600-41235200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr15:41233600-41235800	Flanking Active TSS	Dnd41	blood
24	chr15:41233800-41234600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr15:41233800-41234600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:41233800-41234600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:41233800-41234600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr15:41233800-41234600	Active TSS	Brain Anterior Caudate	brain
29	chr15:41233800-41234600	Active TSS	Duodenum Mucosa	Duodenum
30	chr15:41233800-41234600	Active TSS	Gastric	stomach
31	chr15:41233800-41234600	Active TSS	Left Ventricle	heart
32	chr15:41233800-41234600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr15:41233800-41234600	Active TSS	Spleen	Spleen
34	chr15:41233800-41234600	Active TSS	NH-A	brain
35	chr15:41233800-41234800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:41233800-41234800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:41233800-41234800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:41233800-41234800	Active TSS	Aorta	Aorta
39	chr15:41233800-41234800	Active TSS	Esophagus	oesophagus
40	chr15:41233800-41235000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr15:41233800-41235000	Active TSS	Small Intestine	intestine
42	chr15:41234000-41234600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr15:41234000-41234600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr15:41234000-41234600	Active TSS	Thymus	Thymus
45	chr15:41234200-41234800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr15:41234200-41234800	Flanking Active TSS	Placenta	Placenta
47	chr15:41234200-41235000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:41234200-41235200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr15:41234200-41235400	Enhancers	Fetal Heart	heart
50	chr15:41234200-41235600	Flanking Active TSS	Primary T cells from cord blood	blood

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