Variant report

Variant	rs8100411
Chromosome Location	chr19:35743263-35743264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16970163	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291532	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs34259399	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs482324	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs541169	1.00[JPT][hapmap]
rs542977	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55850007	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56116175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56138958	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs569596	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7248140	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73029957	0.96[ASN][1000 genomes]
rs73029989	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030000	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking 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 miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv978896	chr19:35724047-35748472	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8100411	C19orf33	cis	cerebellum	SCAN
rs8100411	CNTD2	cis	cerebellum	SCAN
rs8100411	MIA	cis	parietal	SCAN
rs8100411	CLIP3	cis	cerebellum	SCAN
rs8100411	MEGF8	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35740400-35744600	Weak transcription	Left Ventricle	heart
2	chr19:35740600-35745200	Weak transcription	Right Atrium	heart
3	chr19:35740600-35748000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:35740600-35748200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:35740800-35744200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:35740800-35747000	Weak transcription	Small Intestine	intestine
7	chr19:35740800-35747400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:35741000-35744400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:35741000-35746000	Weak transcription	Fetal Heart	heart
10	chr19:35741000-35747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:35741000-35748000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:35741000-35748200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:35741200-35744600	Weak transcription	Right Ventricle	heart
14	chr19:35741200-35744800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr19:35741200-35745400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:35741200-35758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:35741400-35743400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:35741400-35744000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr19:35741400-35744200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:35741400-35744200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:35741400-35744200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:35741400-35744400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:35741400-35745400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:35741400-35748200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:35741400-35757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:35741600-35743600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:35741600-35744000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:35741600-35744200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:35741600-35744200	Weak transcription	Spleen	Spleen
30	chr19:35741600-35744400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr19:35741600-35744400	Weak transcription	Esophagus	oesophagus
32	chr19:35741600-35744400	Weak transcription	Hela-S3	cervix
33	chr19:35741600-35744600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:35741600-35744600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:35741600-35744600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr19:35741600-35747000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:35741600-35747000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:35741600-35747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:35741600-35748200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:35741800-35744400	Weak transcription	Stomach Mucosa	stomach
41	chr19:35741800-35745200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:35741800-35746800	Genic enhancers	Liver	Liver
43	chr19:35742000-35756200	Strong transcription	NHEK	skin
44	chr19:35742400-35743400	Genic enhancers	Gastric	stomach
45	chr19:35742400-35746000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:35742600-35743800	Weak transcription	Colonic Mucosa	Colon
47	chr19:35742600-35743800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:35742600-35743800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:35742600-35744200	Weak transcription	Placenta	Placenta
50	chr19:35742600-35744400	Weak transcription	Fetal Stomach	stomach

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