Variant report

Variant	rs9596486
Chromosome Location	chr13:51837299-51837300
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	chr13:51796112..51796761-chr13:51836717..51837532,2	MCF-7	breast:
2	chr13:51836812..51837615-chr13:51860099..51861219,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150510	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17075482	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1886097	0.83[CEU][hapmap]
rs4942974	1.00[CHD][hapmap]
rs4942982	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6561627	0.83[MKK][hapmap]
rs9535627	1.00[CHD][hapmap]
rs9591400	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9596486	DHRS12	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51821600-51839000	Weak transcription	Esophagus	oesophagus
2	chr13:51821600-51845000	Weak transcription	Fetal Brain Male	brain
3	chr13:51824200-51844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:51825400-51840600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr13:51826400-51854600	Weak transcription	Aorta	Aorta
6	chr13:51832000-51837800	Genic enhancers	Brain Cingulate Gyrus	brain
7	chr13:51832600-51837600	Enhancers	Left Ventricle	heart
8	chr13:51832800-51843200	Weak transcription	Fetal Lung	lung
9	chr13:51833200-51837600	Enhancers	Right Ventricle	heart
10	chr13:51833400-51839400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:51833600-51838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:51833600-51860400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:51834000-51837400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:51834000-51837800	Enhancers	Brain Substantia Nigra	brain
15	chr13:51834000-51845200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:51834000-51850800	Weak transcription	Pancreas	Pancrea
17	chr13:51834200-51839400	Weak transcription	Lung	lung
18	chr13:51834200-51856400	Weak transcription	Gastric	stomach
19	chr13:51834800-51837800	Enhancers	Fetal Heart	heart
20	chr13:51835200-51837400	Genic enhancers	H1 Cell Line	embryonic stem cell
21	chr13:51835200-51837400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr13:51835200-51837600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:51835200-51837800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:51835400-51837600	Enhancers	Brain Anterior Caudate	brain
25	chr13:51835600-51837800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:51835800-51837400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
27	chr13:51835800-51837400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:51835800-51837600	Genic enhancers	H9 Cell Line	embryonic stem cell
29	chr13:51835800-51837600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:51835800-51837600	Enhancers	Brain Angular Gyrus	brain
31	chr13:51836000-51845600	Weak transcription	Fetal Brain Female	brain
32	chr13:51836200-51837400	Enhancers	Fetal Muscle Leg	muscle
33	chr13:51836200-51837600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:51836200-51837600	Enhancers	Stomach Smooth Muscle	stomach
35	chr13:51836200-51837800	Enhancers	Fetal Muscle Trunk	muscle
36	chr13:51836200-51839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:51836200-51841800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr13:51836200-51843000	Weak transcription	Ovary	ovary
39	chr13:51836200-51850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:51836400-51837400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:51836400-51840600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:51836600-51837400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:51836600-51837600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:51836600-51844600	Weak transcription	Brain Germinal Matrix	brain
45	chr13:51836800-51837400	Genic enhancers	Right Atrium	heart
46	chr13:51836800-51837600	Genic enhancers	Brain Inferior Temporal Lobe	brain
47	chr13:51836800-51837800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:51836800-51838400	Enhancers	Fetal Stomach	stomach
49	chr13:51837000-51837600	Genic enhancers	Spleen	Spleen
50	chr13:51837200-51837400	Enhancers	NHDF-Ad	bronchial

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