Variant report

Variant	rs12440602
Chromosome Location	chr15:30031773-30031774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30028763..30032102-chr15:30112475..30115713,3	K562	blood:
2	chr15:30023084..30024986-chr15:30029445..30032082,2	K562	blood:

Variant related genes	Relation type
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2229518	0.81[AFR][1000 genomes]
rs4780259	0.81[AFR][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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30015000-30035000	Strong transcription	Adipose Nuclei	Adipose
2	chr15:30015600-30034800	Strong transcription	Fetal Muscle Leg	muscle
3	chr15:30015600-30035200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:30015600-30037600	Weak transcription	Small Intestine	intestine
5	chr15:30015800-30034400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr15:30016600-30035200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:30016600-30052000	Weak transcription	Spleen	Spleen
8	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
9	chr15:30016800-30035600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:30017400-30035600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:30017600-30035400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:30017600-30041600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:30017600-30048600	Weak transcription	Fetal Brain Male	brain
14	chr15:30018200-30052000	Weak transcription	Gastric	stomach
15	chr15:30018400-30035800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:30019200-30035200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:30020200-30037000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
19	chr15:30021400-30032400	Weak transcription	Pancreas	Pancrea
20	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
21	chr15:30023000-30032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:30023000-30032400	Weak transcription	Lung	lung
23	chr15:30024000-30034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:30024000-30035000	Strong transcription	Placenta	Placenta
25	chr15:30024000-30036200	Strong transcription	Fetal Intestine Large	intestine
26	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
27	chr15:30025800-30043200	Weak transcription	NHLF	lung
28	chr15:30026000-30051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
30	chr15:30027600-30034400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr15:30027600-30034800	Strong transcription	Fetal Lung	lung
32	chr15:30027800-30033600	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:30028000-30032400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:30028200-30047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr15:30028200-30049200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:30028400-30035000	Strong transcription	Brain Angular Gyrus	brain
37	chr15:30028600-30035200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:30028800-30032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:30029000-30032400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:30029000-30032800	Weak transcription	Stomach Mucosa	stomach
41	chr15:30029200-30034000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:30029200-30034000	Weak transcription	GM12878-XiMat	blood
43	chr15:30029200-30035600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:30029200-30041800	Weak transcription	Right Ventricle	heart
45	chr15:30029400-30032600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:30029400-30034000	Weak transcription	NHDF-Ad	bronchial
47	chr15:30029400-30035600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:30029600-30031800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:30029600-30031800	Strong transcription	HepG2	liver
50	chr15:30029600-30032000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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