Variant report

Variant	rs1160219
Chromosome Location	chr11:18744695-18744696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18742938..18746162-chr11:18746889..18750542,5	K562	blood:
2	chr11:18721064..18722963-chr11:18742444..18744897,2	MCF-7	breast:
3	chr11:18742601..18744357-chr11:18744570..18746681,3	K562	blood:
4	chr11:18737141..18739080-chr11:18744617..18746294,2	K562	blood:

Variant related genes	Relation type
ENSG00000179057	Chromatin interaction
ENSG00000151117	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2403322	0.88[ASN][1000 genomes]
rs58441608	0.80[ASN][1000 genomes]
rs61886891	0.80[ASN][1000 genomes]
rs61886895	0.86[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	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1047371	chr11:18731473-18763037	Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv525452	chr11:18735947-18802503	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1160219	LOC494141	cis	cerebellum	SCAN
rs1160219	USH1C	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18742600-18745200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:18743800-18745200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:18743800-18745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:18743800-18745400	Weak transcription	Brain Anterior Caudate	brain
5	chr11:18743800-18745600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:18743800-18745600	Weak transcription	Gastric	stomach
7	chr11:18743800-18747400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:18743800-18747400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:18743800-18747400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:18743800-18749000	Weak transcription	Right Ventricle	heart
11	chr11:18743800-18749200	Weak transcription	Left Ventricle	heart
12	chr11:18743800-18753800	Weak transcription	Right Atrium	heart
13	chr11:18744000-18745000	Weak transcription	Fetal Thymus	thymus
14	chr11:18744000-18745400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:18744000-18745400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:18744000-18745600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:18744000-18745600	Weak transcription	HMEC	breast
18	chr11:18744000-18745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:18744000-18746400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr11:18744000-18746800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:18744000-18747400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:18744000-18747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:18744000-18747600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:18744000-18747800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:18744000-18748800	Weak transcription	Ovary	ovary
26	chr11:18744000-18749000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:18744000-18749000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:18744000-18749200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:18744000-18749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:18744000-18749400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:18744200-18745600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:18744200-18745600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:18744200-18746000	Weak transcription	NHEK	skin
34	chr11:18744200-18747200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:18744200-18747600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:18744200-18748600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:18744200-18749000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:18744200-18749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:18744200-18749400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:18744200-18749400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:18744200-18753200	Weak transcription	Brain Angular Gyrus	brain
42	chr11:18744200-18753400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:18744200-18754200	Weak transcription	Fetal Brain Female	brain
44	chr11:18744200-18754400	Weak transcription	Brain Germinal Matrix	brain
45	chr11:18744400-18749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:18744600-18749600	Enhancers	Fetal Muscle Leg	muscle

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