Variant report

Variant	rs2293185
Chromosome Location	chr15:30053660-30053661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30051900..30054307-chr15:30111477..30113324,2	K562	blood:
2	chr15:30052065..30053802-chr15:30055280..30057234,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16954392	1.00[AFR][1000 genomes]
rs16955734	0.85[YRI][hapmap];0.95[AFR][1000 genomes]
rs2306438	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28461632	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs28729338	1.00[AFR][1000 genomes]
rs36012099	0.95[AFR][1000 genomes]
rs3784354	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs45456792	0.91[AFR][1000 genomes]
rs45562339	1.00[ASN][1000 genomes]
rs45589632	1.00[ASN][1000 genomes]
rs45611333	1.00[AFR][1000 genomes]
rs7168092	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:98 , 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	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
3	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
4	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
5	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
6	chr15:30029800-30056000	Weak transcription	K562	blood
7	chr15:30030400-30060800	Weak transcription	Hela-S3	cervix
8	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:30034400-30057800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:30042000-30057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:30042000-30061800	Weak transcription	Pancreas	Pancrea
12	chr15:30042200-30057000	Weak transcription	Lung	lung
13	chr15:30042200-30057800	Weak transcription	Right Ventricle	heart
14	chr15:30044600-30064000	Strong transcription	Fetal Intestine Large	intestine
15	chr15:30046400-30064400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:30047000-30065000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:30047000-30066000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:30047400-30056200	Weak transcription	NHLF	lung
19	chr15:30049400-30057000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:30049400-30066400	Weak transcription	Small Intestine	intestine
21	chr15:30049600-30061600	Weak transcription	Fetal Brain Male	brain
22	chr15:30050000-30064000	Strong transcription	Placenta	Placenta
23	chr15:30050200-30054600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:30050200-30059400	Weak transcription	Right Atrium	heart
25	chr15:30050200-30070600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:30050400-30064400	Strong transcription	HSMM	muscle
27	chr15:30050600-30053800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:30050600-30063400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:30050800-30056200	Strong transcription	A549	lung
30	chr15:30050800-30057600	Strong transcription	NH-A	brain
31	chr15:30050800-30057800	Strong transcription	Left Ventricle	heart
32	chr15:30050800-30058000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:30051000-30058400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr15:30051400-30053800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:30051400-30054000	Strong transcription	Liver	Liver
36	chr15:30051400-30057800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:30051400-30058800	Strong transcription	Adipose Nuclei	Adipose
38	chr15:30051400-30060600	Strong transcription	HepG2	liver
39	chr15:30051400-30063600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:30051600-30056600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:30051600-30065600	Strong transcription	NHEK	skin
42	chr15:30051800-30054200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:30051800-30055400	Strong transcription	Brain Anterior Caudate	brain
44	chr15:30051800-30055400	Strong transcription	HSMMtube	muscle
45	chr15:30051800-30057200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:30051800-30057400	Strong transcription	Fetal Lung	lung
47	chr15:30051800-30057800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:30051800-30058200	Strong transcription	Fetal Muscle Leg	muscle
49	chr15:30051800-30058400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:30051800-30059200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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