Variant report

Variant	rs7812740
Chromosome Location	chr8:19541004-19541005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:19538316-19541049	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19535486..19538060-chr8:19539195..19541920,3	K562	blood:
2	chr8:19535666..19538060-chr8:19539355..19541920,2	K562	blood:

Variant related genes	Relation type
CSGALNACT1	TF binding region
ENSG00000253270	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11204060	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11204062	0.87[ASN][1000 genomes]
rs11204063	0.87[ASN][1000 genomes]
rs11778161	1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11780937	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11784031	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1552776	1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1552778	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1552783	0.87[EUR][1000 genomes]
rs17409194	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17481063	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17481277	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17481361	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3735958	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67745124	0.87[ASN][1000 genomes]
rs68035844	0.87[ASN][1000 genomes]
rs7843349	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv465602	chr8:19536015-19555398	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv610757	chr8:19536015-19555398	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv465603	chr8:19537084-19555398	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv465604	chr8:19537084-19555398	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv465606	chr8:19537084-19555398	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv465607	chr8:19537084-19555398	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv470203	chr8:19537084-19555398	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv610758	chr8:19537084-19555398	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7812740	CSGALNACT1	cis	Whole Blood	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19536400-19543600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:19538400-19541200	Enhancers	Fetal Heart	heart
3	chr8:19538400-19541400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:19539000-19541600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:19539200-19542200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:19539400-19552000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:19539600-19541200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr8:19539600-19541400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:19539600-19548200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:19540200-19548000	Weak transcription	Hela-S3	cervix
11	chr8:19540400-19542000	Weak transcription	Fetal Brain Male	brain
12	chr8:19540400-19542200	Enhancers	Right Atrium	heart
13	chr8:19540400-19542800	Weak transcription	Aorta	Aorta
14	chr8:19540400-19543000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:19540400-19549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:19540600-19542400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:19540600-19542400	Weak transcription	NHLF	lung
18	chr8:19540600-19542800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:19540600-19548400	Weak transcription	Gastric	stomach
20	chr8:19540800-19541200	Weak transcription	Placenta	Placenta
21	chr8:19540800-19542200	Enhancers	Left Ventricle	heart
22	chr8:19540800-19542800	Weak transcription	Pancreas	Pancrea
23	chr8:19540800-19543200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:19540800-19543400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:19540800-19543400	Enhancers	Osteobl	bone
26	chr8:19540800-19543800	Weak transcription	Primary B cells from cord blood	blood
27	chr8:19540800-19544200	Weak transcription	Primary T cells from cord blood	blood
28	chr8:19540800-19544400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:19540800-19544400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:19540800-19545000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:19540800-19548400	Weak transcription	Ovary	ovary
32	chr8:19540800-19548600	Weak transcription	Right Ventricle	heart
33	chr8:19540800-19550400	Weak transcription	Lung	lung
34	chr8:19540800-19550400	Weak transcription	Spleen	Spleen
35	chr8:19541000-19542000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:19541000-19542000	Weak transcription	Fetal Brain Female	brain
37	chr8:19541000-19542200	Weak transcription	A549	lung
38	chr8:19541000-19542400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:19541000-19542800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:19541000-19542800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:19541000-19543200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:19541000-19543600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:19541000-19554200	Weak transcription	Brain Substantia Nigra	brain
44	chr8:19541000-19567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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