Variant report

Variant	rs1017615
Chromosome Location	chr11:45392746-45392747
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11038413	0.81[ASN][1000 genomes]
rs2044876	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6485621	0.80[ASN][1000 genomes]
rs7930399	0.98[ASN][1000 genomes]
rs7950659	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv467869	chr11:45389225-45415035	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv554185	chr11:45389225-45415035	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1017615	RP11-430H10.1	cis	Thyroid	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45388400-45395800	Weak transcription	Liver	Liver
2	chr11:45391600-45392800	Weak transcription	Ovary	ovary
3	chr11:45391800-45392800	Weak transcription	Fetal Brain Female	brain
4	chr11:45391800-45393000	Weak transcription	Fetal Brain Male	brain
5	chr11:45392200-45393000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:45392200-45393200	Enhancers	Brain Angular Gyrus	brain
7	chr11:45392400-45392800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:45392400-45393000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:45392400-45393000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:45392400-45393000	Bivalent Enhancer	Fetal Thymus	thymus
11	chr11:45392400-45393400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr11:45392400-45393400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:45392600-45392800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr11:45392600-45392800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:45392600-45392800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:45392600-45392800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:45392600-45392800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr11:45392600-45392800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr11:45392600-45392800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr11:45392600-45392800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr11:45392600-45392800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr11:45392600-45392800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
23	chr11:45392600-45393000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr11:45392600-45393000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr11:45392600-45393000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:45392600-45393000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:45392600-45393000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr11:45392600-45393000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:45392600-45393000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr11:45392600-45393000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:45392600-45393000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:45392600-45393000	Enhancers	Brain Anterior Caudate	brain
33	chr11:45392600-45393000	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:45392600-45393000	Bivalent Enhancer	Brain Hippocampus Middle	brain
35	chr11:45392600-45393000	Enhancers	Esophagus	oesophagus
36	chr11:45392600-45393000	Bivalent Enhancer	Fetal Kidney	kidney
37	chr11:45392600-45393000	Enhancers	Thymus	Thymus
38	chr11:45392600-45393200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:45392600-45393200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:45392600-45393200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:45392600-45393200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr11:45392600-45393200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:45392600-45393200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:45392600-45393200	Bivalent Enhancer	Placenta	Placenta
45	chr11:45392600-45393200	Enhancers	Gastric	stomach
46	chr11:45392600-45393200	Enhancers	Pancreas	Pancrea
47	chr11:45392600-45393200	Enhancers	Spleen	Spleen
48	chr11:45392600-45393400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr11:45392600-45393400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:45392600-45393400	Enhancers	Fetal Lung	lung

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