Variant report

Variant	rs10957384
Chromosome Location	chr8:68219564-68219565
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67974959..67977039-chr8:68219146..68220853,2	K562	blood:
2	chr8:68215076..68216603-chr8:68218593..68220372,2	MCF-7	breast:
3	chr8:68211004..68214267-chr8:68215813..68220684,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121022	Chromatin interaction
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10105795	0.92[ASN][1000 genomes]
rs10957381	0.90[CHB][hapmap];0.90[CHD][hapmap]
rs11774715	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779287	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986169	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11995348	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12674570	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674848	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12675528	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12678025	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12678865	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679614	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681292	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12681862	0.95[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs12682412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253205	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13255070	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264289	0.87[ASN][1000 genomes]
rs13267015	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270606	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13275593	0.95[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13275826	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13280556	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1544986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17425781	0.93[ASN][1000 genomes]
rs1821026	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28640047	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34132973	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34345865	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34711984	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35017613	0.82[EUR][1000 genomes]
rs35480743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35754047	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35904049	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56186469	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57179217	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60196076	0.91[ASN][1000 genomes]
rs6472297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68086555	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987724	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992604	0.83[EUR][1000 genomes]
rs6993324	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002191	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002622	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7013561	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs718348	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72654960	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7464980	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812777	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7812887	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7813810	0.85[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs7817641	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7818520	0.92[ASN][1000 genomes]
rs7822637	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823436	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830183	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7841468	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841756	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7844125	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[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
rs10957384	LGALS4	trans	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:68159000-68221400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
5	chr8:68174000-68225600	Weak transcription	Esophagus	oesophagus
6	chr8:68176000-68219800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:68179200-68221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:68197800-68234200	Weak transcription	Aorta	Aorta
9	chr8:68199600-68219600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:68199800-68219600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:68199800-68219800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:68200200-68219600	Weak transcription	Brain Angular Gyrus	brain
13	chr8:68204400-68219600	Weak transcription	NHLF	lung
14	chr8:68208800-68226000	Weak transcription	A549	lung
15	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
16	chr8:68209800-68221400	Weak transcription	Fetal Brain Female	brain
17	chr8:68210800-68219600	Weak transcription	Fetal Heart	heart
18	chr8:68210800-68225600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:68210800-68225800	Weak transcription	K562	blood
20	chr8:68211000-68219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
22	chr8:68212000-68225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:68212200-68219600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:68212200-68220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:68212200-68220200	Weak transcription	Thymus	Thymus
26	chr8:68212200-68221200	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:68212200-68221800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:68212200-68225800	Weak transcription	Spleen	Spleen
29	chr8:68212200-68229000	Weak transcription	HepG2	liver
30	chr8:68212400-68219600	Weak transcription	Fetal Lung	lung
31	chr8:68212400-68219800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:68212400-68228200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:68212600-68219600	Weak transcription	NHDF-Ad	bronchial
34	chr8:68212600-68219800	Weak transcription	Brain Anterior Caudate	brain
35	chr8:68212800-68221200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:68212800-68225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
38	chr8:68213000-68220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:68213000-68225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:68213000-68225800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:68213200-68222200	Weak transcription	Fetal Stomach	stomach
42	chr8:68213200-68229000	Weak transcription	Small Intestine	intestine
43	chr8:68213400-68225600	Weak transcription	Brain Germinal Matrix	brain
44	chr8:68213600-68219600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:68213600-68219600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:68213600-68219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:68213600-68225000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:68213600-68225200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:68213600-68225600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:68213600-68225800	Weak transcription	Pancreas	Pancrea

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