Variant report

Variant	rs2229513
Chromosome Location	chr15:30034910-30034911
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	chr15:30033909..30035507-chr15:30113047..30114881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104067	Chromatin interaction
ENSG00000259523	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs45467298	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45504204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45557935	0.83[AFR][1000 genomes]
rs9806607	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30015000-30035000	Strong transcription	Adipose Nuclei	Adipose
2	chr15:30015600-30035200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:30015600-30037600	Weak transcription	Small Intestine	intestine
4	chr15:30016600-30035200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:30016600-30052000	Weak transcription	Spleen	Spleen
6	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
7	chr15:30016800-30035600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:30017400-30035600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:30017600-30035400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:30017600-30041600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:30017600-30048600	Weak transcription	Fetal Brain Male	brain
12	chr15:30018200-30052000	Weak transcription	Gastric	stomach
13	chr15:30018400-30035800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:30019200-30035200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:30020200-30037000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
17	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
18	chr15:30024000-30035000	Strong transcription	Placenta	Placenta
19	chr15:30024000-30036200	Strong transcription	Fetal Intestine Large	intestine
20	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
21	chr15:30025800-30043200	Weak transcription	NHLF	lung
22	chr15:30026000-30051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
24	chr15:30028200-30047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:30028200-30049200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:30028400-30035000	Strong transcription	Brain Angular Gyrus	brain
27	chr15:30028600-30035200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:30029200-30035600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:30029200-30041800	Weak transcription	Right Ventricle	heart
30	chr15:30029400-30035600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:30029600-30035400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:30029600-30036000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:30029600-30036200	Strong transcription	HSMM	muscle
34	chr15:30029600-30036400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:30029600-30041600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:30029600-30048600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr15:30029800-30035200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:30029800-30035800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:30029800-30056000	Weak transcription	K562	blood
40	chr15:30030400-30060800	Weak transcription	Hela-S3	cervix
41	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:30030600-30035000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr15:30030600-30035000	Strong transcription	HSMMtube	muscle
44	chr15:30030600-30035000	Strong transcription	Osteobl	bone
45	chr15:30030800-30035000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:30030800-30036400	Strong transcription	Left Ventricle	heart
47	chr15:30031200-30035000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr15:30031600-30040400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:30031600-30041600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:30031600-30041600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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