Variant report

Variant	rs11986169
Chromosome Location	chr8:68231354-68231355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68229360..68231750-chr8:68237669..68240298,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10105795	0.99[ASN][1000 genomes]
rs10957381	0.95[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap]
rs10957384	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11774715	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11779287	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11995348	0.82[ASN][1000 genomes]
rs12674570	0.87[ASN][1000 genomes]
rs12674848	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12675528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678025	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678865	0.85[EUR][1000 genomes]
rs12679614	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681292	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12681862	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs12682412	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13253205	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13255070	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13264289	0.96[ASN][1000 genomes]
rs13267015	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13270606	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13275593	0.95[CEU][hapmap];0.80[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13280556	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1544986	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17425781	0.84[ASN][1000 genomes]
rs1821026	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2116130	0.87[ASN][1000 genomes]
rs28640047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34132973	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34345865	0.87[ASN][1000 genomes]
rs34711984	0.87[ASN][1000 genomes]
rs35480743	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35754047	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35904049	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57179217	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60196076	1.00[ASN][1000 genomes]
rs6472297	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68086555	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991974	0.87[LWK][hapmap]
rs6992604	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6993324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002191	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002622	0.86[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap]
rs7013561	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs718348	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72654960	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7464980	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7812777	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812887	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7813810	0.90[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7817641	0.85[EUR][1000 genomes]
rs7818520	0.99[ASN][1000 genomes]
rs7820370	0.87[ASN][1000 genomes]
rs7822637	0.83[EUR][1000 genomes]
rs7823436	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7830183	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841468	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7841756	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7844125	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking 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 lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11986169	LGALS4	trans	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
2	chr8:68197800-68234200	Weak transcription	Aorta	Aorta
3	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
4	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
5	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
6	chr8:68214000-68234600	Weak transcription	HMEC	breast
7	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:68220400-68251400	Weak transcription	NHDF-Ad	bronchial
11	chr8:68220400-68251800	Weak transcription	NHLF	lung
12	chr8:68220600-68236400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:68224600-68251800	Weak transcription	HUVEC	blood vessel
14	chr8:68225600-68250200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:68225600-68251600	Weak transcription	Fetal Brain Female	brain
16	chr8:68226000-68236400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:68226200-68236200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:68226200-68236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:68226400-68231600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:68226400-68236400	Weak transcription	Adipose Nuclei	Adipose
21	chr8:68226400-68236400	Weak transcription	Brain Substantia Nigra	brain
22	chr8:68226400-68236400	Weak transcription	Gastric	stomach
23	chr8:68226400-68236600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:68226400-68236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:68226400-68238000	Weak transcription	GM12878-XiMat	blood
26	chr8:68226400-68238600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:68226400-68238800	Weak transcription	Spleen	Spleen
28	chr8:68226400-68248800	Weak transcription	Fetal Lung	lung
29	chr8:68226400-68250200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:68226400-68251400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:68226400-68252200	Weak transcription	Placenta	Placenta
32	chr8:68226400-68252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:68226400-68252800	Weak transcription	NHEK	skin
34	chr8:68226400-68254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:68226400-68254600	Weak transcription	Esophagus	oesophagus
36	chr8:68226600-68232200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:68226600-68233000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:68226600-68237600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:68226600-68246800	Weak transcription	Liver	Liver
40	chr8:68226600-68248600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:68226600-68250400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:68226600-68252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:68226600-68254200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:68226600-68254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:68226600-68254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:68226800-68234000	Weak transcription	Fetal Intestine Large	intestine
47	chr8:68226800-68248400	Weak transcription	Brain Germinal Matrix	brain
48	chr8:68226800-68251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:68227000-68252400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:68227000-68253600	Weak transcription	Pancreas	Pancrea

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