Variant report

Variant	rs8076336
Chromosome Location	chr17:18212614-18212615
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18212159..18213927-chr17:18216222..18218610,2	K562	blood:
2	chr17:18203822..18205985-chr17:18212015..18214181,2	K562	blood:

Variant related genes	Relation type
ENSG00000177302	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11555081	0.81[JPT][hapmap]
rs1682280	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs17806489	0.81[JPT][hapmap]
rs1979276	0.82[TSI][hapmap];0.87[YRI][hapmap]
rs2168781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2273026	0.81[JPT][hapmap]
rs2294914	0.81[JPT][hapmap]
rs2461847	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs3088175	0.81[JPT][hapmap]
rs4925157	0.81[JPT][hapmap]
rs4925159	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs543301	0.81[JPT][hapmap]
rs584300	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs7207123	0.82[TSI][hapmap]
rs7222009	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs921986	0.82[TSI][hapmap];0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8076336	SNORD49B	cis	cerebellum	SCAN
rs8076336	MAPK7	cis	cerebellum	SCAN
rs8076336	LOC162632	cis	cerebellum	SCAN
rs8076336	LOC162632	cis	parietal	SCAN
rs8076336	TOP3A	cis	cerebellum	SCAN
rs8076336	TRPV2	cis	cerebellum	SCAN
rs8076336	PIGL	cis	parietal	SCAN
rs8076336	SHMT1	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18172200-18217400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18173000-18213800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:18184800-18217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:18194600-18215600	Weak transcription	Fetal Heart	heart
5	chr17:18196800-18217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:18201800-18216200	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr17:18202000-18213000	Strong transcription	Placenta	Placenta
8	chr17:18202200-18216600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:18202400-18212800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr17:18202400-18213600	Strong transcription	Dnd41	blood
11	chr17:18202400-18214200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:18202400-18215400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr17:18202400-18215600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:18202400-18215600	Strong transcription	Fetal Thymus	thymus
15	chr17:18202400-18216000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:18202400-18216000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:18202400-18216000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:18202400-18216200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:18202400-18216400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:18202400-18216400	Strong transcription	Fetal Stomach	stomach
21	chr17:18202400-18216600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:18202400-18216600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:18202400-18216600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr17:18202400-18216600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr17:18202600-18212800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr17:18202600-18215200	Strong transcription	HepG2	liver
27	chr17:18202600-18215600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr17:18202600-18215600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:18202600-18215800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:18203200-18216800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr17:18204200-18212800	Strong transcription	NH-A	brain
32	chr17:18205600-18213800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr17:18206800-18217000	Weak transcription	Stomach Mucosa	stomach
34	chr17:18208200-18213800	Strong transcription	GM12878-XiMat	blood
35	chr17:18208600-18215200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:18208800-18213600	Weak transcription	NHEK	skin
37	chr17:18208800-18213800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr17:18208800-18213800	Weak transcription	NHLF	lung
39	chr17:18208800-18214200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr17:18208800-18217000	Weak transcription	Right Ventricle	heart
41	chr17:18209800-18215000	Weak transcription	Spleen	Spleen
42	chr17:18210200-18217000	Weak transcription	Psoas Muscle	Psoas
43	chr17:18210400-18213800	Weak transcription	Brain Hippocampus Middle	brain
44	chr17:18210400-18215000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:18210400-18215000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:18210400-18215400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:18210400-18215400	Weak transcription	Fetal Brain Male	brain
48	chr17:18210600-18213200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr17:18210600-18213600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:18210600-18213600	Weak transcription	Brain Inferior Temporal Lobe	brain

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