Variant report

Variant	rs4497251
Chromosome Location	chr1:97874074-97874075
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1112314	0.87[YRI][hapmap]
rs12021567	0.87[YRI][hapmap]
rs12022771	0.87[YRI][hapmap]
rs12026223	0.92[YRI][hapmap]
rs12040388	0.87[YRI][hapmap]
rs12040699	0.87[YRI][hapmap]
rs12040763	0.87[YRI][hapmap]
rs12043021	0.86[YRI][hapmap]
rs12043125	0.87[YRI][hapmap]
rs12047072	0.87[YRI][hapmap]
rs12047625	0.87[YRI][hapmap]
rs1356917	0.87[YRI][hapmap]
rs1577897	0.89[LWK][hapmap];0.93[YRI][hapmap]
rs1879372	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1879374	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2018902	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4300257	0.86[YRI][hapmap]
rs4363450	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4428925	0.87[YRI][hapmap]
rs4445510	0.87[YRI][hapmap]
rs4495747	0.87[YRI][hapmap]
rs4503384	0.87[YRI][hapmap]
rs55698615	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs55844132	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56062554	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58054780	0.91[ASN][1000 genomes]
rs58623258	0.82[ASN][1000 genomes]
rs60852591	0.91[ASN][1000 genomes]
rs6677502	0.87[YRI][hapmap]
rs72728415	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728418	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728426	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728430	1.00[ASN][1000 genomes]
rs72728440	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728452	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72728456	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72728460	0.80[AMR][1000 genomes]
rs72728475	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72728482	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72728483	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72728490	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72729904	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72729905	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7516781	0.87[YRI][hapmap]
rs7527030	0.87[YRI][hapmap]
rs7544128	0.86[YRI][hapmap]
rs7548189	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv546865	chr1:97838887-97874663	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv871806	chr1:97855607-97885200	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv870572	chr1:97862237-97876372	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4497251	SLC35A3	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97831000-97874800	Weak transcription	HSMM	muscle
2	chr1:97837200-97877600	Weak transcription	Adipose Nuclei	Adipose
3	chr1:97846200-97874200	Weak transcription	Primary T cells from cord blood	blood
4	chr1:97846600-97886800	Weak transcription	Dnd41	blood
5	chr1:97847200-97912600	Weak transcription	Primary B cells from cord blood	blood
6	chr1:97861600-97888600	Weak transcription	Left Ventricle	heart
7	chr1:97861600-97930000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:97865400-97878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:97867600-97874800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:97867800-97875800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:97868800-97874200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:97868800-97913000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:97869400-97887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:97871000-97878400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:97871400-97874200	Weak transcription	Lung	lung
16	chr1:97871800-97874200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:97872600-97875000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:97872600-97876600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:97872800-97912200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:97873000-97874800	Strong transcription	Liver	Liver
22	chr1:97873000-97875600	Weak transcription	Esophagus	oesophagus
23	chr1:97873000-97875600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:97873000-97875800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:97873000-97885600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:97873200-97875200	Weak transcription	Aorta	Aorta
27	chr1:97873600-97876000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:97873600-97876000	Weak transcription	Fetal Lung	lung
29	chr1:97873600-97877800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:97873800-97877400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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