Variant report

Variant	rs236810
Chromosome Location	chr17:15458308-15458309
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	chr17:15457303..15459524-chr17:15462785..15464978,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs236809	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs236815	0.95[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs2938158	0.94[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs2938171	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs716389	0.85[LWK][hapmap];0.93[MKK][hapmap]
rs9911005	0.83[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv960418	chr17:15441505-15470653	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3395445	chr17:15444877-15459575	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv3508601	chr17:15450327-15459525	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3508602	chr17:15450327-15459525	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs236810	TEKT3	cis	parietal	SCAN
rs236810	TRIM16	cis	parietal	SCAN
rs236810	CDRT4	cis	cerebellum	SCAN
rs236810	TEKT3	cis	cerebellum	SCAN
rs236810	RASD1	cis	parietal	SCAN
rs236810	CDRT4	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr17:15417600-15466400	Weak transcription	Ovary	ovary
3	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
5	chr17:15422800-15465800	Weak transcription	Fetal Intestine Small	intestine
6	chr17:15429800-15466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:15429800-15466400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:15431000-15465400	Weak transcription	K562	blood
9	chr17:15439000-15466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:15439600-15466000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:15439800-15466400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr17:15440200-15466400	Weak transcription	Left Ventricle	heart
13	chr17:15440800-15466000	Weak transcription	NHEK	skin
14	chr17:15441000-15466000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr17:15442600-15465400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr17:15442600-15466000	Weak transcription	A549	lung
17	chr17:15442600-15466400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:15442800-15462600	Weak transcription	Thymus	Thymus
19	chr17:15442800-15465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:15442800-15466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:15442800-15466400	Weak transcription	Lung	lung
22	chr17:15445200-15462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:15447200-15465200	Weak transcription	HUVEC	blood vessel
24	chr17:15449000-15465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:15449000-15466000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr17:15449000-15466000	Weak transcription	Brain Anterior Caudate	brain
27	chr17:15449000-15466000	Weak transcription	HSMMtube	muscle
28	chr17:15449200-15459200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:15449200-15465400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:15449200-15466000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr17:15449200-15466000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:15449200-15466000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:15449200-15466000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:15449200-15466000	Weak transcription	NH-A	brain
35	chr17:15449400-15458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:15449400-15462800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr17:15449600-15462600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:15449600-15463600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:15449600-15463600	Weak transcription	HepG2	liver
40	chr17:15449600-15465200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:15449600-15465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:15449600-15465800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr17:15449600-15466000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:15449600-15466000	Weak transcription	Osteobl	bone
45	chr17:15449800-15462000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr17:15449800-15465200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:15449800-15466000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:15449800-15466200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:15451000-15465400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:15451200-15462000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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