Variant report

Variant	rs530785780
Chromosome Location	chr15:41233313-41233314
allele	C/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	chr15:41231280..41234394-chr15:41292861..41295820,3	K562	blood:
2	chr15:41233308..41234007-chrX:48958051..48958896,2	Hela-S3	cervix:
3	chr15:41232489..41235569-chr15:41253295..41255593,3	MCF-7	breast:
4	chr15:40886274..40887836-chr15:41232537..41234993,2	K562	blood:
5	chr15:41232946..41236246-chr15:41262141..41265286,3	MCF-7	breast:
6	chr15:40978878..40981252-chr15:41232643..41234691,2	MCF-7	breast:
7	chr15:41206994..41209856-chr15:41231483..41234125,2	MCF-7	breast:
8	chr15:41233298..41234275-chr15:72978457..72979157,2	Hela-S3	cervix:
9	chr15:41230478..41233329-chr15:41297882..41299703,2	MCF-7	breast:
10	chr11:62609122..62610004-chr15:41233254..41234137,2	Hela-S3	cervix:
11	chr15:41193554..41195434-chr15:41232672..41235208,2	K562	blood:
12	chr15:41201322..41202834-chr15:41232432..41234012,2	MCF-7	breast:
13	chr15:41196058..41200363-chr15:41232746..41236796,6	MCF-7	breast:
14	chr15:41195653..41200412-chr15:41230792..41235632,4	MCF-7	breast:
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
ENSG00000137812	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000196998	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41225000-41233600	Weak transcription	Esophagus	oesophagus
2	chr15:41226000-41233400	Weak transcription	Thymus	Thymus
3	chr15:41227800-41233600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:41228600-41233600	Enhancers	Fetal Thymus	thymus
5	chr15:41229600-41233400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:41230000-41233400	Weak transcription	Osteobl	bone
7	chr15:41230400-41233400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:41230600-41233800	Enhancers	Spleen	Spleen
9	chr15:41230800-41233600	Weak transcription	Psoas Muscle	Psoas
10	chr15:41230800-41233800	Weak transcription	Gastric	stomach
11	chr15:41231000-41233400	Enhancers	Fetal Muscle Trunk	muscle
12	chr15:41232000-41233400	Genic enhancers	Fetal Intestine Small	intestine
13	chr15:41232000-41233400	Enhancers	Fetal Muscle Leg	muscle
14	chr15:41232000-41233600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:41232000-41233800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr15:41232000-41234000	Enhancers	Primary B cells from peripheral blood	blood
17	chr15:41232000-41234000	Enhancers	Fetal Kidney	kidney
18	chr15:41232000-41234000	Flanking Active TSS	GM12878-XiMat	blood
19	chr15:41232200-41233400	Enhancers	Brain Cingulate Gyrus	brain
20	chr15:41232200-41233400	Enhancers	Right Ventricle	heart
21	chr15:41232200-41233600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:41232200-41233600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr15:41232200-41233600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:41232400-41233400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr15:41232400-41233400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr15:41232400-41233400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:41232400-41233400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr15:41232400-41233400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr15:41232400-41233400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr15:41232400-41233400	Enhancers	Brain Anterior Caudate	brain
31	chr15:41232400-41233400	Enhancers	Brain Substantia Nigra	brain
32	chr15:41232400-41233400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr15:41232400-41233400	Enhancers	NHDF-Ad	bronchial
34	chr15:41232400-41233600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:41232400-41233600	Enhancers	Primary B cells from cord blood	blood
36	chr15:41232400-41233600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:41232400-41233600	Enhancers	NH-A	brain
38	chr15:41232400-41233800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr15:41232400-41233800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr15:41232400-41234000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr15:41232400-41234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:41232400-41234000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:41232400-41234000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr15:41232400-41234200	Enhancers	Placenta	Placenta
45	chr15:41232400-41234400	Enhancers	Fetal Lung	lung
46	chr15:41232400-41235000	Enhancers	Fetal Brain Male	brain
47	chr15:41232400-41235400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:41232600-41233400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr15:41232600-41233400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr15:41232600-41233400	Enhancers	Fetal Brain Female	brain

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