Variant report

Variant	rs479623
Chromosome Location	chr15:35093232-35093233
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	chr15:35091621..35093914-chr15:35110145..35112659,2	K562	blood:
2	chr15:35091969..35094940-chr15:35115211..35117056,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12913142	0.83[ASN][1000 genomes]
rs4594215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs639735	0.82[CHB][hapmap]
rs640249	0.86[CHB][hapmap]
rs7175090	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv569133	chr15:34881304-35142566	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv457106	chr15:35049787-35227613	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569153	chr15:35049787-35227613	Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs479623	SLC12A6	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35087600-35095000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:35088400-35094000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:35090200-35097000	Enhancers	Fetal Heart	heart
4	chr15:35091400-35094400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:35091600-35093400	Enhancers	Left Ventricle	heart
6	chr15:35091800-35094000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:35091800-35095000	Enhancers	Fetal Muscle Leg	muscle
8	chr15:35091800-35096200	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:35092000-35093400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:35092000-35094000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:35092000-35094400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:35092000-35095400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:35092000-35095600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:35092200-35093400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr15:35092200-35093400	Enhancers	Hela-S3	cervix
16	chr15:35092200-35094400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:35092200-35095600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:35092400-35095200	Weak transcription	K562	blood
19	chr15:35092400-35097600	Enhancers	HSMMtube	muscle
20	chr15:35092800-35093400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr15:35092800-35094600	Weak transcription	Fetal Lung	lung
22	chr15:35092800-35095600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:35093000-35095200	Weak transcription	Placenta	Placenta
24	chr15:35093000-35100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:35093200-35093400	Enhancers	HSMM	muscle
26	chr15:35093200-35097000	Weak transcription	NHDF-Ad	bronchial
27	chr15:35093200-35100200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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