Variant report

Variant	rs10119509
Chromosome Location	chr9:7154294-7154295
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	chr9:7149048..7151328-chr9:7152979..7155533,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10739118	0.92[CEU][hapmap]
rs10739121	0.84[CEU][hapmap]
rs10758838	0.84[CEU][hapmap]
rs10758841	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10815532	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10976070	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs12683056	0.92[CEU][hapmap];0.81[CHB][hapmap];0.87[MEX][hapmap]
rs1885975	0.88[CEU][hapmap]
rs4556139	0.84[CEU][hapmap]
rs7037878	0.96[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs7043609	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv892192	chr9:7153009-7257340	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10119509	MLANA	cis	parietal	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7130200-7154800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:7135200-7164800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:7147200-7171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:7147400-7165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:7147400-7174600	Weak transcription	NHEK	skin
6	chr9:7147600-7155200	Enhancers	Fetal Heart	heart
7	chr9:7147800-7165200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:7148600-7161000	Weak transcription	Ovary	ovary
9	chr9:7148600-7172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:7148600-7185400	Weak transcription	HMEC	breast
11	chr9:7148800-7154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:7148800-7164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:7149000-7165000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:7149000-7165200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:7149200-7164800	Weak transcription	Liver	Liver
16	chr9:7149200-7165200	Weak transcription	Thymus	Thymus
17	chr9:7149400-7164600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr9:7149400-7165200	Weak transcription	Adipose Nuclei	Adipose
19	chr9:7149600-7172200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:7149600-7185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:7149600-7186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:7149800-7172800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:7150400-7175800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:7150600-7165200	Weak transcription	GM12878-XiMat	blood
25	chr9:7150800-7164600	Weak transcription	Fetal Thymus	thymus
26	chr9:7150800-7164800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:7150800-7165000	Weak transcription	Esophagus	oesophagus
28	chr9:7150800-7165200	Weak transcription	Spleen	Spleen
29	chr9:7150800-7165400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr9:7150800-7169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr9:7150800-7172800	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:7151000-7159800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:7151200-7164400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr9:7151200-7165000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:7151200-7171000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr9:7151200-7173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:7151400-7165000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr9:7151400-7165000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr9:7151400-7165000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr9:7151600-7162600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:7151600-7163800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr9:7151600-7164000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:7151600-7164400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:7151600-7164400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr9:7151800-7164600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr9:7151800-7165000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:7151800-7188600	Weak transcription	Colonic Mucosa	Colon
48	chr9:7152000-7155400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr9:7152000-7164000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr9:7152000-7165400	Weak transcription	Placenta	Placenta

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