Variant report

Variant	rs533260230
Chromosome Location	chr15:30064629-30064630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30056869..30058668-chr15:30062635..30065302,2	MCF-7	breast:
2	chr15:30063787..30066295-chr15:30068795..30070825,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv819003	chr15:30064372-30065843	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
2	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
3	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
4	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:30047000-30065000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:30047000-30066000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:30049400-30066400	Weak transcription	Small Intestine	intestine
8	chr15:30050200-30070600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:30051600-30065600	Strong transcription	NHEK	skin
10	chr15:30052000-30065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:30052000-30070600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:30052600-30067600	Weak transcription	Stomach Mucosa	stomach
13	chr15:30052600-30089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:30053000-30072600	Weak transcription	Spleen	Spleen
15	chr15:30057400-30067200	Weak transcription	K562	blood
16	chr15:30057600-30068600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:30058000-30067200	Weak transcription	Psoas Muscle	Psoas
18	chr15:30058200-30065600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:30058200-30067200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:30058600-30065600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:30058600-30067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:30058600-30067200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:30058600-30092200	Weak transcription	Esophagus	oesophagus
24	chr15:30058600-30106000	Weak transcription	Gastric	stomach
25	chr15:30059400-30065600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:30059800-30086200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:30060600-30071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:30060800-30065200	Weak transcription	Right Ventricle	heart
29	chr15:30060800-30069200	Weak transcription	Right Atrium	heart
30	chr15:30060800-30076800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:30061000-30067200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:30061200-30066600	Weak transcription	Hela-S3	cervix
33	chr15:30061400-30065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:30061400-30065800	Weak transcription	Fetal Heart	heart
35	chr15:30061400-30066000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:30062200-30065600	Strong transcription	Fetal Intestine Small	intestine
37	chr15:30062200-30065800	Weak transcription	HMEC	breast
38	chr15:30062200-30066400	Weak transcription	NHLF	lung
39	chr15:30062200-30067200	Weak transcription	NHDF-Ad	bronchial
40	chr15:30062400-30065600	Weak transcription	Fetal Brain Male	brain
41	chr15:30062400-30065800	Weak transcription	NH-A	brain
42	chr15:30062400-30072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:30062800-30096600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:30063000-30072600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr15:30063200-30064800	Strong transcription	Brain Angular Gyrus	brain
46	chr15:30063200-30065600	Genic enhancers	A549	lung
47	chr15:30063600-30065200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:30063600-30065800	Weak transcription	Brain Hippocampus Middle	brain
49	chr15:30063600-30066400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:30063600-30066400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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