Variant report

Variant	rs10758838
Chromosome Location	chr9:7152636-7152637
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	chr9:7131849..7134386-chr9:7150388..7153232,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10119509	0.84[CEU][hapmap]
rs10733531	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10739116	0.84[JPT][hapmap]
rs10739118	0.92[CEU][hapmap]
rs10739119	0.81[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs10739120	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10739121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10758841	0.84[CEU][hapmap]
rs10976070	0.88[CEU][hapmap]
rs12683056	0.92[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs1885975	0.88[CEU][hapmap]
rs4556139	1.00[CEU][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes]
rs913581	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892191	chr9:7150997-7173752	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10758838	MLANA	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7104800-7153200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:7128000-7153200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:7130200-7154800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:7135200-7164800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:7136600-7153200	Weak transcription	HepG2	liver
6	chr9:7147200-7171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:7147400-7165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:7147400-7174600	Weak transcription	NHEK	skin
9	chr9:7147600-7153800	Weak transcription	Brain Germinal Matrix	brain
10	chr9:7147600-7155200	Enhancers	Fetal Heart	heart
11	chr9:7147800-7165200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:7148400-7153400	Weak transcription	Aorta	Aorta
13	chr9:7148400-7153400	Weak transcription	Brain Anterior Caudate	brain
14	chr9:7148600-7153200	Weak transcription	Pancreas	Pancrea
15	chr9:7148600-7161000	Weak transcription	Ovary	ovary
16	chr9:7148600-7172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:7148600-7185400	Weak transcription	HMEC	breast
18	chr9:7148800-7153200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:7148800-7153200	Weak transcription	Brain Substantia Nigra	brain
20	chr9:7148800-7153800	Weak transcription	Dnd41	blood
21	chr9:7148800-7154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:7148800-7164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:7149000-7153600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:7149000-7165000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:7149000-7165200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:7149200-7164800	Weak transcription	Liver	Liver
27	chr9:7149200-7165200	Weak transcription	Thymus	Thymus
28	chr9:7149400-7153200	Weak transcription	Right Atrium	heart
29	chr9:7149400-7153800	Weak transcription	Fetal Intestine Large	intestine
30	chr9:7149400-7164600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr9:7149400-7165200	Weak transcription	Adipose Nuclei	Adipose
32	chr9:7149600-7172200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:7149600-7185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:7149600-7186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:7149800-7153400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:7149800-7153400	Weak transcription	Gastric	stomach
37	chr9:7149800-7153800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:7149800-7172800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:7150200-7153600	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:7150400-7175800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:7150600-7165200	Weak transcription	GM12878-XiMat	blood
42	chr9:7150800-7153200	Weak transcription	Primary B cells from cord blood	blood
43	chr9:7150800-7153200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:7150800-7153200	Weak transcription	K562	blood
45	chr9:7150800-7153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:7150800-7164600	Weak transcription	Fetal Thymus	thymus
47	chr9:7150800-7164800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:7150800-7165000	Weak transcription	Esophagus	oesophagus
49	chr9:7150800-7165200	Weak transcription	Spleen	Spleen
50	chr9:7150800-7165400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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