Variant report

Variant	rs562446993
Chromosome Location	chr15:41233893-41233894
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 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	chr15:41196280..41196828-chr15:41233825..41234733,2	K562	blood:
4	chr15:41233308..41234007-chrX:48958051..48958896,2	Hela-S3	cervix:
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	chr15:41206994..41209856-chr15:41231483..41234125,2	MCF-7	breast:
12	chr15:41233298..41234275-chr15:72978457..72979157,2	Hela-S3	cervix:
13	chr11:62609122..62610004-chr15:41233254..41234137,2	Hela-S3	cervix:
14	chr15:41193554..41195434-chr15:41232672..41235208,2	K562	blood:
15	chr11:62608653..62609556-chr15:41233703..41234613,3	HCT-116	colon:
16	chr12:110485906..110486440-chr15:41233524..41234079,2	Hela-S3	cervix:
17	chr15:41201322..41202834-chr15:41232432..41234012,2	MCF-7	breast:
18	chr15:41233547..41234323-chr2:32390434..32390966,2	HCT-116	colon:
19	chr1:155947571..155948169-chr15:41233547..41234127,2	Hela-S3	cervix:
20	chr15:41196058..41200363-chr15:41232746..41236796,6	MCF-7	breast:
21	chr15:41195653..41200412-chr15:41230792..41235632,4	MCF-7	breast:
22	chr15:41232897..41235509-chr15:41313138..41315009,3	MCF-7	breast:
23	chr15:41233743..41234424-chr5:137799907..137800483,2	Hela-S3	cervix:
24	chr15:41216351..41218911-chr15:41231824..41234826,3	MCF-7	breast:
25	chr15:41231034..41235223-chr15:41248876..41252149,4	MCF-7	breast:
26	chr15:41233061..41238851-chr15:41242514..41246532,9	MCF-7	breast:
27	chr15:41232446..41235218-chr15:41255104..41257063,2	K562	blood:
28	chr15:41233616..41234427-chr19:3534815..3535324,2	Hela-S3	cervix:
29	chr15:41231932..41234904-chr15:41266157..41268211,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000259405	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000137812	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000174456	Chromatin interaction
ENSG00000196998	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000116584	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41232000-41234000	Enhancers	Primary B cells from peripheral blood	blood
2	chr15:41232000-41234000	Enhancers	Fetal Kidney	kidney
3	chr15:41232000-41234000	Flanking Active TSS	GM12878-XiMat	blood
4	chr15:41232400-41234000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr15:41232400-41234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:41232400-41234000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:41232400-41234000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr15:41232400-41234200	Enhancers	Placenta	Placenta
9	chr15:41232400-41234400	Enhancers	Fetal Lung	lung
10	chr15:41232400-41235000	Enhancers	Fetal Brain Male	brain
11	chr15:41232400-41235400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:41232600-41234000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:41232600-41234000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr15:41232800-41234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr15:41233000-41234000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr15:41233000-41234200	Enhancers	Primary T cells from cord blood	blood
17	chr15:41233000-41234400	Enhancers	Liver	Liver
18	chr15:41233000-41234600	Active TSS	Rectal Smooth Muscle	rectum
19	chr15:41233200-41234000	Flanking Active TSS	NHLF	lung
20	chr15:41233200-41234200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:41233200-41234400	Enhancers	Stomach Mucosa	stomach
22	chr15:41233200-41234600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr15:41233200-41234600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr15:41233200-41235000	Flanking Active TSS	Colonic Mucosa	Colon
25	chr15:41233400-41234000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:41233400-41234000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr15:41233400-41234000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr15:41233400-41234000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:41233400-41234000	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr15:41233400-41234000	Flanking Active TSS	HSMM	muscle
31	chr15:41233400-41234000	Flanking Active TSS	HUVEC	blood vessel
32	chr15:41233400-41234400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:41233400-41234400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr15:41233400-41234400	Active TSS	Brain Substantia Nigra	brain
35	chr15:41233400-41235000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr15:41233600-41234000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:41233600-41234000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:41233600-41234000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:41233600-41234000	Flanking Active TSS	Thymus	Thymus
40	chr15:41233600-41234200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:41233600-41234400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr15:41233600-41234400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:41233600-41234400	Active TSS	Brain Angular Gyrus	brain
44	chr15:41233600-41234400	Active TSS	Brain Cingulate Gyrus	brain
45	chr15:41233600-41234400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:41233600-41234400	Active TSS	Psoas Muscle	Psoas
47	chr15:41233600-41234400	Active TSS	NHDF-Ad	bronchial
48	chr15:41233600-41234400	Active TSS	Osteobl	bone
49	chr15:41233600-41234600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr15:41233600-41234600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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