Variant report

Variant	rs3812080
Chromosome Location	chr5:177549491-177549492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177547044..177549748-chr5:177575234..177578369,3	K562	blood:
2	chr5:177548762..177553216-chr5:177630602..177633012,4	MCF-7	breast:
3	chr5:177546904..177549875-chr5:177630412..177633087,2	MCF-7	breast:
4	chr5:177547624..177549561-chr5:177564717..177566861,2	K562	blood:

Variant related genes	Relation type
ENSG00000197451	Chromatin interaction
ENSG00000145916	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10035478	0.85[ASN][1000 genomes]
rs10040895	0.82[EUR][1000 genomes]
rs10060446	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10074810	0.94[JPT][hapmap]
rs12655707	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13155699	0.81[ASN][1000 genomes]
rs13163671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165989	0.84[ASN][1000 genomes]
rs13175750	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13180226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13185763	0.82[ASN][1000 genomes]
rs13436876	0.90[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.85[ASN][1000 genomes]
rs34093388	0.92[ASN][1000 genomes]
rs34343747	0.82[ASN][1000 genomes]
rs34353050	0.84[ASN][1000 genomes]
rs34882864	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35433113	0.82[ASN][1000 genomes]
rs35450829	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35598853	0.83[ASN][1000 genomes]
rs36087128	0.82[ASN][1000 genomes]
rs36090803	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812073	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812074	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3812075	0.89[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3812077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812079	0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3924305	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4637566	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs56351116	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6601217	0.84[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6873523	0.84[GIH][hapmap]
rs7379278	0.84[GIH][hapmap]
rs7380934	0.84[GIH][hapmap]
rs7447860	0.85[ASN][1000 genomes]
rs7448252	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7701678	0.81[CEU][hapmap];0.91[GIH][hapmap]
rs7716409	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7716860	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7732415	0.84[GIH][hapmap]
rs7733574	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv883186	chr5:177376317-177549491	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
4	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv600391	chr5:177488281-177549491	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
7	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
11	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv883191	chr5:177535370-177551985	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3812080	DOK3	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177541800-177557200	Weak transcription	Right Atrium	heart
2	chr5:177542000-177549600	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:177542600-177551000	Weak transcription	Gastric	stomach
4	chr5:177544600-177552200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:177545200-177552000	Enhancers	Fetal Thymus	thymus
6	chr5:177545400-177549800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:177545600-177550000	Enhancers	Primary B cells from cord blood	blood
8	chr5:177546200-177550000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:177546200-177551400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:177546200-177551800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:177546200-177552000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:177546400-177552200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:177546600-177551000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr5:177546600-177551000	Genic enhancers	Placenta	Placenta
15	chr5:177546800-177549600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:177546800-177550200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:177546800-177550200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:177546800-177550200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:177547000-177549600	Genic enhancers	Spleen	Spleen
20	chr5:177547000-177553400	Weak transcription	HUVEC	blood vessel
21	chr5:177547400-177550000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:177547600-177550400	Genic enhancers	Esophagus	oesophagus
23	chr5:177547800-177550200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:177547800-177550600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:177548000-177549600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:177548000-177550800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:177548000-177550800	Weak transcription	Fetal Brain Female	brain
28	chr5:177548000-177550800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr5:177548200-177550600	Enhancers	Left Ventricle	heart
30	chr5:177548200-177551600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:177548400-177549800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:177548400-177549800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr5:177548400-177550200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:177548400-177550400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:177548400-177551600	Enhancers	Right Ventricle	heart
36	chr5:177548600-177549600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr5:177548600-177549600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:177548600-177549600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr5:177548600-177549800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr5:177548600-177550000	Weak transcription	Fetal Lung	lung
41	chr5:177548600-177550200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:177548600-177550600	Weak transcription	Stomach Mucosa	stomach
43	chr5:177548600-177550800	Weak transcription	K562	blood
44	chr5:177548600-177551400	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr5:177548600-177551400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:177548600-177551400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:177548600-177557000	Weak transcription	Fetal Intestine Large	intestine
48	chr5:177548800-177549600	Enhancers	Duodenum Mucosa	Duodenum
49	chr5:177548800-177549600	Enhancers	Ovary	ovary
50	chr5:177548800-177549800	Enhancers	Pancreas	Pancrea

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