Variant report

Variant	rs562342239
Chromosome Location	chr15:41234237-41234238
allele	A/C
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41231280..41234394-chr15:41292861..41295820,3	K562	blood:
2	chr15:41233583..41234336-chr5:43483972..43484531,2	Hela-S3	cervix:
3	chr15:41234021..41234626-chr15:41310647..41311276,2	MCF-7	breast:
4	chr15:41196280..41196828-chr15:41233825..41234733,2	K562	blood:
5	chr15:41233383..41235115-chr15:41239344..41241397,2	MCF-7	breast:
6	chr15:41232489..41235569-chr15:41253295..41255593,3	MCF-7	breast:
7	chr15:41233447..41234350-chr15:63892233..63892913,2	Hela-S3	cervix:
8	chr15:40886274..40887836-chr15:41232537..41234993,2	K562	blood:
9	chr15:41232946..41236246-chr15:41262141..41265286,3	MCF-7	breast:
10	chr15:40978878..40981252-chr15:41232643..41234691,2	MCF-7	breast:
11	chr15:41234066..41235999-chr15:41310279..41312553,2	MCF-7	breast:
12	chr15:41233298..41234275-chr15:72978457..72979157,2	Hela-S3	cervix:
13	chr15:41193554..41195434-chr15:41232672..41235208,2	K562	blood:
14	chr11:62608653..62609556-chr15:41233703..41234613,3	HCT-116	colon:
15	chr15:41233547..41234323-chr2:32390434..32390966,2	HCT-116	colon:
16	chr15:41234112..41234673-chr15:41314434..41315104,2	MCF-7	breast:
17	chr15:41196058..41200363-chr15:41232746..41236796,6	MCF-7	breast:
18	chr15:41195653..41200412-chr15:41230792..41235632,4	MCF-7	breast:
19	chr15:41221907..41222892-chr15:41234199..41234770,2	K562	blood:
20	chr15:41232897..41235509-chr15:41313138..41315009,3	MCF-7	breast:
21	chr15:41233743..41234424-chr5:137799907..137800483,2	Hela-S3	cervix:
22	chr15:41216351..41218911-chr15:41231824..41234826,3	MCF-7	breast:
23	chr15:41231034..41235223-chr15:41248876..41252149,4	MCF-7	breast:
24	chr15:41233061..41238851-chr15:41242514..41246532,9	MCF-7	breast:
25	chr15:41232446..41235218-chr15:41255104..41257063,2	K562	blood:
26	chr15:41233616..41234427-chr19:3534815..3535324,2	Hela-S3	cervix:
27	chr15:41231932..41234904-chr15:41266157..41268211,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000259405	Chromatin interaction
ENSG00000137812	Chromatin interaction
ENSG00000175202	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41232400-41234400	Enhancers	Fetal Lung	lung
2	chr15:41232400-41235000	Enhancers	Fetal Brain Male	brain
3	chr15:41232400-41235400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:41233000-41234400	Enhancers	Liver	Liver
5	chr15:41233000-41234600	Active TSS	Rectal Smooth Muscle	rectum
6	chr15:41233200-41234400	Enhancers	Stomach Mucosa	stomach
7	chr15:41233200-41234600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr15:41233200-41234600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr15:41233200-41235000	Flanking Active TSS	Colonic Mucosa	Colon
10	chr15:41233400-41234400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:41233400-41234400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr15:41233400-41234400	Active TSS	Brain Substantia Nigra	brain
13	chr15:41233400-41235000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr15:41233600-41234400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr15:41233600-41234400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:41233600-41234400	Active TSS	Brain Angular Gyrus	brain
17	chr15:41233600-41234400	Active TSS	Brain Cingulate Gyrus	brain
18	chr15:41233600-41234400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:41233600-41234400	Active TSS	Psoas Muscle	Psoas
20	chr15:41233600-41234400	Active TSS	NHDF-Ad	bronchial
21	chr15:41233600-41234400	Active TSS	Osteobl	bone
22	chr15:41233600-41234600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:41233600-41234600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:41233600-41234600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:41233600-41234600	Active TSS	Fetal Brain Female	brain
26	chr15:41233600-41234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:41233600-41234800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:41233600-41234800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr15:41233600-41234800	Active TSS	Lung	lung
30	chr15:41233600-41234800	Active TSS	Ovary	ovary
31	chr15:41233600-41234800	Flanking Active TSS	HMEC	breast
32	chr15:41233600-41234800	Active TSS	HSMMtube	muscle
33	chr15:41233600-41235000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr15:41233600-41235000	Active TSS	Right Atrium	heart
35	chr15:41233600-41235000	Active TSS	A549	lung
36	chr15:41233600-41235200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr15:41233600-41235800	Flanking Active TSS	Dnd41	blood
38	chr15:41233800-41234400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr15:41233800-41234400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:41233800-41234400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr15:41233800-41234400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:41233800-41234400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr15:41233800-41234400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:41233800-41234400	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr15:41233800-41234400	Active TSS	Primary T cells fromperipheralblood	blood
46	chr15:41233800-41234400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr15:41233800-41234400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:41233800-41234400	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr15:41233800-41234400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:41233800-41234400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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