Variant report

Variant	rs923768
Chromosome Location	chr8:19530963-19530964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19523263..19525014-chr8:19530361..19532867,2	MCF-7	breast:
2	chr8:19530467..19533341-chr8:19540692..19542563,2	K562	blood:

Variant related genes	Relation type
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11204064	0.81[JPT][hapmap]
rs11776531	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.99[ASN][1000 genomes]
rs11776539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11785951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11993323	0.91[JPT][hapmap]
rs1552778	0.80[YRI][hapmap]
rs1552779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17090675	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs17128819	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17128822	1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.87[YRI][hapmap];0.99[ASN][1000 genomes]
rs17481063	0.80[YRI][hapmap]
rs2172350	0.87[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs56355799	0.99[ASN][1000 genomes]
rs59897738	0.87[ASN][1000 genomes]
rs61117033	0.82[ASN][1000 genomes]
rs62494489	0.83[ASN][1000 genomes]
rs6980879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[ASN][1000 genomes]
rs958416	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[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	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	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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
10	nsv890628	chr8:19527536-19540966	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs923768	PEBP4	cis	cerebellum	SCAN
rs923768	SLC39A14	cis	parietal	SCAN
rs923768	PIWIL2	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19520400-19539000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:19520400-19539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:19520400-19539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:19520600-19538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:19520600-19538800	Weak transcription	Esophagus	oesophagus
6	chr8:19520600-19538800	Weak transcription	Gastric	stomach
7	chr8:19523200-19533200	Weak transcription	Pancreas	Pancrea
8	chr8:19523200-19534600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:19523600-19538600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:19523800-19540200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:19524200-19535200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:19524200-19539000	Weak transcription	Ovary	ovary
13	chr8:19525000-19533400	Weak transcription	Placenta	Placenta
14	chr8:19525200-19532800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:19525200-19533400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:19525400-19538800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:19528400-19538400	Weak transcription	Fetal Heart	heart
18	chr8:19528600-19538600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:19528600-19540200	Weak transcription	Spleen	Spleen
20	chr8:19528800-19533000	Weak transcription	Right Atrium	heart
21	chr8:19528800-19536200	Weak transcription	Right Ventricle	heart
22	chr8:19528800-19538800	Weak transcription	Lung	lung
23	chr8:19529000-19531000	Genic enhancers	A549	lung
24	chr8:19529200-19532200	Strong transcription	Primary B cells from cord blood	blood
25	chr8:19529200-19533400	Weak transcription	Thymus	Thymus
26	chr8:19529600-19532400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:19530400-19531200	Strong transcription	Left Ventricle	heart
28	chr8:19530400-19532000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:19530600-19532000	ZNF genes & repeats	Hela-S3	cervix
30	chr8:19530600-19532200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:19530600-19538400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:19530800-19531000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:19530800-19531200	Enhancers	Brain Angular Gyrus	brain
34	chr8:19530800-19531200	ZNF genes & repeats	Brain Hippocampus Middle	brain
35	chr8:19530800-19531800	Strong transcription	Primary T cells from cord blood	blood
36	chr8:19530800-19532400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:19530800-19534600	Weak transcription	Primary hematopoietic stem cells	blood

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