Variant report

Variant	rs577200
Chromosome Location	chr18:44442402-44442403
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44437029..44439059-chr18:44441936..44443633,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10853544	0.95[EUR][1000 genomes]
rs10853545	0.92[CEU][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs10853547	0.89[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs11082562	0.86[EUR][1000 genomes]
rs1539878	0.89[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs1789152	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1893427	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1942248	0.86[CHD][hapmap];0.95[JPT][hapmap]
rs2010834	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs2032215	0.92[CEU][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2051292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2156050	0.92[CEU][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2187090	0.94[EUR][1000 genomes]
rs2187092	0.88[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs2510443	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2510444	0.83[EUR][1000 genomes]
rs2956973	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2957007	0.82[EUR][1000 genomes]
rs3892820	0.96[EUR][1000 genomes]
rs4258717	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4548968	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4890341	0.88[CEU][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes]
rs4890342	0.83[EUR][1000 genomes]
rs4890699	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs4890703	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4890707	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs509647	0.87[EUR][1000 genomes]
rs512868	0.85[CHD][hapmap]
rs538221	0.83[EUR][1000 genomes]
rs553456	0.92[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs557089	0.83[EUR][1000 genomes]
rs557661	0.82[EUR][1000 genomes]
rs571181	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs605487	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs607780	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs626217	0.92[CEU][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs642897	0.92[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs643233	0.89[ASN][1000 genomes]
rs649076	0.89[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs6507709	0.92[CEU][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6507712	0.80[ASN][1000 genomes]
rs6507714	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs658756	0.92[CEU][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs695001	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7227700	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs7232114	0.87[CHD][hapmap];0.95[JPT][hapmap]
rs7234570	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7240239	0.92[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs7244013	0.83[EUR][1000 genomes]
rs7244778	0.89[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs7245049	0.83[EUR][1000 genomes]
rs8089938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8091984	0.81[EUR][1000 genomes]
rs8095373	0.89[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs9304337	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9304338	0.86[EUR][1000 genomes]
rs9304340	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs9945443	0.94[EUR][1000 genomes]
rs9962523	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers 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	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs577200	ST8SIA5	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
2	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
3	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
5	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr18:44408800-44448200	Weak transcription	Lung	lung
12	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:44414000-44448400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr18:44415600-44448000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:44420200-44445600	Weak transcription	K562	blood
16	chr18:44423400-44446400	Weak transcription	HSMM	muscle
17	chr18:44425000-44446000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:44432200-44448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:44432600-44443400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr18:44433000-44448600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr18:44433800-44446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:44434000-44448000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:44434400-44448200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:44434600-44445400	Weak transcription	Fetal Brain Female	brain
25	chr18:44434800-44448200	Weak transcription	Gastric	stomach
26	chr18:44435000-44443600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:44435000-44446000	Weak transcription	NH-A	brain
28	chr18:44435000-44446800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr18:44435000-44447400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:44435000-44447800	Weak transcription	Fetal Intestine Small	intestine
31	chr18:44435000-44447800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:44435000-44448000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:44435000-44448000	Weak transcription	Liver	Liver
34	chr18:44435000-44448000	Weak transcription	Fetal Lung	lung
35	chr18:44435000-44448000	Weak transcription	HepG2	liver
36	chr18:44435000-44448200	Weak transcription	Fetal Stomach	stomach
37	chr18:44435000-44448400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr18:44435000-44448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:44435000-44448400	Weak transcription	Brain Anterior Caudate	brain
40	chr18:44435000-44448600	Weak transcription	Aorta	Aorta
41	chr18:44435000-44448600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr18:44435000-44448600	Weak transcription	Left Ventricle	heart
43	chr18:44435000-44448800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr18:44435000-44457400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:44435400-44445800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:44435400-44446600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr18:44435400-44446800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:44435400-44447800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr18:44435400-44448200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr18:44435400-44448200	Weak transcription	Monocytes-CD14+_RO01746	blood

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