Variant report

Variant	rs4481612
Chromosome Location	chr8:19285336-19285337
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19283299..19285964-chr8:19292652..19294945,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10107348	1.00[JPT][hapmap]
rs10107416	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11204039	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11204040	0.82[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs11204041	0.83[CEU][hapmap];0.92[CHB][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11780343	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[ASN][1000 genomes]
rs11780388	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs11782540	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11784873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11785649	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11786847	0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs11787230	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11991105	0.86[CEU][hapmap];0.92[CHB][hapmap];0.88[ASN][1000 genomes]
rs12542575	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs12543061	0.89[CEU][hapmap];1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs12674938	0.82[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs12675717	0.82[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs12677088	0.85[JPT][hapmap]
rs12678336	0.96[ASN][1000 genomes]
rs12679712	0.89[CEU][hapmap];0.84[CHB][hapmap]
rs13255677	0.83[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13255946	0.89[CEU][hapmap];0.84[CHB][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs13258090	0.89[CEU][hapmap];0.92[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13278459	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs17407039	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17407149	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17479099	0.82[AMR][1000 genomes]
rs34156560	0.83[ASN][1000 genomes]
rs3802328	0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4256608	1.00[CEU][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4307360	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4333618	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4379462	0.85[CEU][hapmap]
rs4391454	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs4392915	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs4412390	0.89[CEU][hapmap];0.84[CHB][hapmap]
rs4430112	0.88[ASN][1000 genomes]
rs4431609	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs4433156	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4541947	1.00[JPT][hapmap]
rs4546679	1.00[ASN][1000 genomes]
rs4549789	1.00[ASN][1000 genomes]
rs4554480	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs4617172	0.81[CEU][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs4921638	0.89[CEU][hapmap]
rs4921642	0.88[ASN][1000 genomes]
rs4921643	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs4921645	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4922028	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4922029	0.85[JPT][hapmap]
rs56298301	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6586830	0.88[ASN][1000 genomes]
rs6586833	0.85[JPT][hapmap]
rs6981898	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs6983973	0.83[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs6984145	0.88[ASN][1000 genomes]
rs6990217	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs6990357	0.89[CEU][hapmap];0.84[CHB][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs6991212	0.82[AMR][1000 genomes]
rs6991231	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6992893	0.83[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs6992950	0.83[CHB][hapmap]
rs6997164	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6999786	0.89[CEU][hapmap];0.84[CHB][hapmap]
rs7004435	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7006702	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs7008916	0.87[ASN][1000 genomes]
rs7012529	0.88[ASN][1000 genomes]
rs7015440	0.82[AMR][1000 genomes]
rs7016259	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs7016592	0.83[CEU][hapmap];0.85[CHB][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs7814793	0.85[JPT][hapmap]
rs7820698	0.92[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7821446	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7822046	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs7823194	0.88[ASN][1000 genomes]
rs7830251	0.85[JPT][hapmap]
rs7833166	0.83[ASN][1000 genomes]
rs7835461	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs7835945	0.84[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7844175	0.88[ASN][1000 genomes]
rs9720249	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
6	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv610752	chr8:19254816-19311496	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1022344	chr8:19270143-19324083	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4481612	CSGALNACT1	cis	Skin Sun Exposed Lower leg	GTEx
rs4481612	CSGALNACT1	cis	Thyroid	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19267200-19297000	Weak transcription	Brain Substantia Nigra	brain
2	chr8:19267800-19295600	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:19270200-19288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:19271800-19305200	Weak transcription	Pancreas	Pancrea
5	chr8:19275800-19287200	Weak transcription	Gastric	stomach
6	chr8:19275800-19288600	Weak transcription	Aorta	Aorta
7	chr8:19275800-19295600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:19277600-19295600	Weak transcription	Hela-S3	cervix
9	chr8:19277600-19307800	Weak transcription	Fetal Stomach	stomach
10	chr8:19277800-19300200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:19278000-19304800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:19279600-19290600	Weak transcription	Primary B cells from cord blood	blood
13	chr8:19281800-19296800	Weak transcription	Lung	lung
14	chr8:19282400-19286400	Weak transcription	Esophagus	oesophagus
15	chr8:19282400-19292200	Weak transcription	Fetal Brain Male	brain
16	chr8:19282400-19294800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:19282800-19287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:19283800-19290800	Weak transcription	Placenta	Placenta
19	chr8:19283800-19294800	Weak transcription	Left Ventricle	heart
20	chr8:19283800-19302200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:19283800-19307800	Weak transcription	Ovary	ovary
22	chr8:19284000-19287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:19284000-19302400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:19284200-19294600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:19284200-19300000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:19284400-19287200	Weak transcription	Primary T cells from cord blood	blood
27	chr8:19284600-19287200	Weak transcription	A549	lung
28	chr8:19284800-19288200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:19284800-19290800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:19284800-19294000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:19284800-19297000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:19285000-19290600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:19285000-19296200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:19285000-19297000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:19285200-19286000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:19285200-19286400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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