Variant report

Variant	rs11772849
Chromosome Location	chr7:100308412-100308413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100304410..100307570-chr7:100307942..100309622,3	MCF-7	breast:
2	chr7:100308383..100310094-chr7:100311797..100313308,2	MCF-7	breast:
3	chr7:100302997..100306317-chr7:100307854..100311293,5	K562	blood:
4	chr7:100301507..100303500-chr7:100307658..100310486,2	MCF-7	breast:
5	chr7:100302099..100306340-chr7:100306369..100309524,5	MCF-7	breast:
6	chr7:100303598..100306087-chr7:100306435..100308667,2	K562	blood:

Variant related genes	Relation type
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10953300	0.90[EUR][1000 genomes]
rs11520986	0.90[EUR][1000 genomes]
rs11760602	0.90[EUR][1000 genomes]
rs11765509	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769012	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11772052	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11772705	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11973874	0.90[EUR][1000 genomes]
rs11974395	0.92[EUR][1000 genomes]
rs11979818	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11980509	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11983334	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11984421	0.87[EUR][1000 genomes]
rs12531792	0.92[EUR][1000 genomes]
rs2272572	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4727459	0.92[EUR][1000 genomes]
rs4729602	0.90[EUR][1000 genomes]
rs4729605	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729606	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4729607	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62482249	0.90[EUR][1000 genomes]
rs62482250	0.90[EUR][1000 genomes]
rs62482251	0.90[EUR][1000 genomes]
rs62482252	0.90[EUR][1000 genomes]
rs62483567	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62483569	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62483570	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11772849	MOSPD3	cis	Whole Blood	GTEx
rs11772849	PERQ1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100304800-100308600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:100305000-100309000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:100305000-100309200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:100305000-100309800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:100305000-100318000	Weak transcription	Right Atrium	heart
6	chr7:100305200-100308600	Weak transcription	NHDF-Ad	bronchial
7	chr7:100305200-100308800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:100305200-100308800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:100305200-100308800	Weak transcription	Colonic Mucosa	Colon
10	chr7:100305200-100309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:100305200-100309000	Weak transcription	Ovary	ovary
12	chr7:100305200-100309200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:100305200-100309200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:100305200-100310000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:100305200-100310200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:100305200-100310400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:100305200-100311000	Weak transcription	Fetal Intestine Large	intestine
18	chr7:100305200-100311800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:100305200-100313200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:100305200-100313400	Weak transcription	Brain Germinal Matrix	brain
21	chr7:100305200-100315000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:100305200-100318400	Weak transcription	Gastric	stomach
23	chr7:100305400-100308800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:100305400-100308800	Weak transcription	HMEC	breast
25	chr7:100305400-100309000	Weak transcription	Fetal Brain Female	brain
26	chr7:100305400-100309200	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:100305400-100309200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:100305400-100309400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:100305400-100309400	Weak transcription	A549	lung
30	chr7:100305400-100309400	Weak transcription	NHLF	lung
31	chr7:100305400-100309600	Enhancers	Liver	Liver
32	chr7:100305400-100311400	Weak transcription	Brain Angular Gyrus	brain
33	chr7:100305400-100313000	Weak transcription	NH-A	brain
34	chr7:100305600-100312200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:100305800-100309000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:100305800-100309600	Weak transcription	Hela-S3	cervix
37	chr7:100306000-100309400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:100306000-100309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:100306000-100310000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:100306000-100310000	Weak transcription	HSMM	muscle
41	chr7:100306000-100313200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:100306200-100308600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:100306200-100308800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:100306200-100310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:100306200-100314400	Weak transcription	Lung	lung
46	chr7:100306400-100308600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:100306400-100309200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:100306400-100309200	Weak transcription	NHEK	skin
49	chr7:100306400-100311000	Weak transcription	K562	blood
50	chr7:100306400-100313200	Weak transcription	Stomach Smooth Muscle	stomach

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