Variant report

Variant	rs16974196
Chromosome Location	chr19:40833470-40833471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11083554	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12151335	0.86[JPT][hapmap]
rs12460555	0.86[JPT][hapmap]
rs2304186	0.82[JPT][hapmap]
rs2368575	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs33933140	0.82[JPT][hapmap]
rs34894858	0.82[JPT][hapmap]
rs3745195	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs3746006	1.00[ASW][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.86[AFR][1000 genomes]
rs4490097	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4502340	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4802076	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7259541	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7507651	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs890773	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs892117	0.82[JPT][hapmap]
rs9636120	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
5	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs16974196	DMRTC2	cis	parietal	SCAN
rs16974196	ARHGEF1	cis	cerebellum	SCAN
rs16974196	TMEM91	cis	parietal	SCAN
rs16974196	APOC4	cis	cerebellum	SCAN
rs16974196	PSG8	cis	cerebellum	SCAN
rs16974196	RABAC1	cis	cerebellum	SCAN
rs16974196	ZNF428	cis	parietal	SCAN
rs16974196	PLAUR	cis	cerebellum	SCAN
rs16974196	PTGIR	cis	parietal	SCAN
rs16974196	GALNTL1	trans	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40819200-40834000	Weak transcription	Fetal Kidney	kidney
2	chr19:40820800-40848400	Strong transcription	Dnd41	blood
3	chr19:40821400-40835000	Strong transcription	Fetal Intestine Small	intestine
4	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:40822000-40842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:40822000-40843400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
8	chr19:40822200-40842400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:40822200-40842600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:40822200-40843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:40822200-40845400	Strong transcription	Fetal Muscle Leg	muscle
12	chr19:40822400-40846200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr19:40823400-40842400	Strong transcription	Fetal Brain Female	brain
14	chr19:40823400-40845400	Strong transcription	Thymus	Thymus
15	chr19:40824000-40839400	Strong transcription	NHLF	lung
16	chr19:40824000-40842200	Strong transcription	Liver	Liver
17	chr19:40824000-40842400	Strong transcription	Brain Germinal Matrix	brain
18	chr19:40824000-40842600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:40824200-40846400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr19:40824400-40843000	Strong transcription	Fetal Thymus	thymus
23	chr19:40825200-40836800	Weak transcription	Stomach Mucosa	stomach
24	chr19:40825200-40842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:40825400-40842600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr19:40825600-40835000	Strong transcription	Lung	lung
27	chr19:40825600-40835600	Strong transcription	Brain Cingulate Gyrus	brain
28	chr19:40825600-40842200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:40825600-40842400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:40825800-40835000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:40825800-40837400	Strong transcription	Colonic Mucosa	Colon
32	chr19:40825800-40838600	Strong transcription	Brain Hippocampus Middle	brain
33	chr19:40825800-40841600	Strong transcription	Right Ventricle	heart
34	chr19:40825800-40842200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:40825800-40842200	Strong transcription	Adipose Nuclei	Adipose
36	chr19:40825800-40842400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:40825800-40842400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:40825800-40842400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:40825800-40842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:40825800-40842600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr19:40825800-40845400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr19:40826000-40835000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:40826000-40840200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr19:40826000-40840600	Strong transcription	HSMMtube	muscle
45	chr19:40826000-40842200	Strong transcription	Gastric	stomach
46	chr19:40826000-40842400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:40826000-40842400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr19:40826000-40842400	Strong transcription	Fetal Intestine Large	intestine
49	chr19:40826000-40842400	Strong transcription	Left Ventricle	heart
50	chr19:40826000-40842400	Strong transcription	Ovary	ovary

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