Variant report

Variant	rs8108032
Chromosome Location	chr19:38041549-38041550
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37860446..37862285-chr19:38041060..38043682,2	K562	blood:

Variant related genes	Relation type
ENSG00000189164	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1016291	0.84[ASN][1000 genomes]
rs16958869	0.81[ASN][1000 genomes]
rs16973130	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[ASN][1000 genomes]
rs16973541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16973717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16973886	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs16973890	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16973919	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16974061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16974358	0.81[ASN][1000 genomes]
rs2045907	0.92[ASN][1000 genomes]
rs2061779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2216690	1.00[JPT][hapmap]
rs2290998	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2306200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2385128	0.92[ASN][1000 genomes]
rs3795068	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs3795070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs41325249	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs4330033	0.81[ASN][1000 genomes]
rs4452074	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[ASN][1000 genomes]
rs6508734	0.82[YRI][hapmap]
rs7245750	0.87[YRI][hapmap]
rs7249524	0.87[YRI][hapmap]
rs7252424	0.82[YRI][hapmap]
rs7259281	0.85[YRI][hapmap]
rs73632242	0.96[ASN][1000 genomes]
rs8107454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8112992	0.87[YRI][hapmap]
rs955711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv2478	chr19:38025340-38043818	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8108032	SCARNA7	trans	lymphoblastoid	seeQTL
rs8108032	GIMAP4	trans	lymphoblastoid	seeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38029800-38042000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:38032400-38080800	ZNF genes & repeats	Liver	Liver
3	chr19:38032600-38075200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:38035000-38042800	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr19:38036600-38041800	ZNF genes & repeats	Fetal Lung	lung
6	chr19:38037800-38042800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
7	chr19:38037800-38043000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:38037800-38043200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:38037800-38043800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:38037800-38045400	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr19:38038000-38041800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:38038000-38042400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
13	chr19:38038000-38042600	ZNF genes & repeats	Brain Angular Gyrus	brain
14	chr19:38038000-38042800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr19:38038000-38042800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
16	chr19:38038000-38043000	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr19:38038000-38078400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:38038600-38042800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:38038600-38042800	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr19:38038600-38079600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:38038800-38045600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:38039000-38042800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:38039000-38043000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:38039200-38042800	ZNF genes & repeats	Esophagus	oesophagus
25	chr19:38039200-38043000	ZNF genes & repeats	Thymus	Thymus
26	chr19:38039400-38042200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:38039400-38042800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:38039400-38042800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:38039400-38042800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:38039600-38042800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr19:38039800-38042600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:38039800-38042600	ZNF genes & repeats	Fetal Brain Male	brain
33	chr19:38039800-38042800	ZNF genes & repeats	Gastric	stomach
34	chr19:38039800-38043000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:38040000-38042800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:38040000-38042800	ZNF genes & repeats	Colonic Mucosa	Colon
37	chr19:38040200-38042800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr19:38040200-38043200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr19:38040400-38042200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr19:38040400-38042800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr19:38040600-38041800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:38040600-38041800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr19:38040600-38041800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
44	chr19:38040600-38042600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr19:38040600-38042800	ZNF genes & repeats	Spleen	Spleen
46	chr19:38040600-38043000	ZNF genes & repeats	Fetal Stomach	stomach
47	chr19:38040600-38043200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:38040800-38041600	ZNF genes & repeats	Fetal Kidney	kidney
49	chr19:38040800-38042800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:38040800-38042800	ZNF genes & repeats	Fetal Intestine Small	intestine

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