Variant report

Variant	rs1967103
Chromosome Location	chr8:19559379-19559380
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10090551	0.93[EUR][1000 genomes]
rs1021435	0.81[EUR][1000 genomes]
rs1492636	0.95[EUR][1000 genomes]
rs4921667	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7835354	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7835627	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised 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	6 gene(s)	inside rSNPs	diseases
8	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1021225	chr8:19554860-19586580	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1967103	INTS10	cis	cerebellum	SCAN
rs1967103	ChGn	cis	multi-tissue	Pritchard
rs1967103	SLC25A37	cis	parietal	SCAN
rs1967103	CSGALNACT1	cis	Whole Blood	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19541000-19567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19555000-19573200	Weak transcription	Pancreas	Pancrea
3	chr8:19555200-19563600	Weak transcription	Adipose Nuclei	Adipose
4	chr8:19555200-19566000	Weak transcription	Lung	lung
5	chr8:19555200-19567200	Weak transcription	Fetal Brain Male	brain
6	chr8:19555200-19573600	Weak transcription	Fetal Stomach	stomach
7	chr8:19555400-19559600	Weak transcription	Right Atrium	heart
8	chr8:19555400-19563000	Weak transcription	Left Ventricle	heart
9	chr8:19555400-19563800	Weak transcription	Placenta	Placenta
10	chr8:19555400-19566000	Weak transcription	Right Ventricle	heart
11	chr8:19556800-19560200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:19557200-19566200	Weak transcription	Hela-S3	cervix
13	chr8:19558200-19560200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:19558200-19561600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:19558200-19562000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:19558200-19563400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:19558200-19565800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:19558400-19560400	Weak transcription	A549	lung
19	chr8:19558400-19562600	Weak transcription	Thymus	Thymus
20	chr8:19558400-19563200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:19558600-19559600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:19558600-19559600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:19558600-19560200	Weak transcription	Primary B cells from cord blood	blood
24	chr8:19558600-19560400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:19558600-19561600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:19558600-19564000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:19558600-19565800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:19558600-19570800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:19558600-19573400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:19558800-19562200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:19558800-19565800	Weak transcription	Primary T cells from cord blood	blood
32	chr8:19559200-19560200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:19559200-19571200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:19559200-19573400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:19559200-19573600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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