Variant report

Variant	rs7463896
Chromosome Location	chr8:124665575-124665576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr8:124665397-124665635	K562	blood:	n/a	n/a
2	MXI1	chr8:124665458-124666702	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
KLHL38	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11777302	0.80[GIH][hapmap]
rs11780509	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11784192	0.86[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11786734	0.88[ASN][1000 genomes]
rs11991744	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11994199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13252050	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs13270650	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs4374971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4496951	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871402	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs4871403	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs6470169	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470170	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7387544	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7387855	0.88[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7464171	0.88[ASN][1000 genomes]
rs7464207	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3420486	chr8:124661471-124665669	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1841310	chr8:124664130-124666429	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7463896	NSMCE2	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124656800-124666000	Weak transcription	HSMM	muscle
2	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:124659400-124667000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:124661000-124666000	Active TSS	Right Atrium	heart
6	chr8:124661200-124665600	Weak transcription	Osteobl	bone
7	chr8:124661200-124665800	Weak transcription	HSMMtube	muscle
8	chr8:124661200-124665800	Weak transcription	NH-A	brain
9	chr8:124661200-124666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:124661200-124666400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:124661400-124666200	Active TSS	Fetal Muscle Trunk	muscle
13	chr8:124663800-124665600	Flanking Active TSS	Fetal Heart	heart
14	chr8:124664000-124666200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:124664000-124668000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr8:124664200-124666200	Enhancers	Aorta	Aorta
17	chr8:124664200-124667800	Enhancers	Placenta	Placenta
18	chr8:124664200-124668200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:124664200-124668400	Enhancers	Ovary	ovary
20	chr8:124664200-124669000	Enhancers	Fetal Stomach	stomach
21	chr8:124664400-124666400	Active TSS	Psoas Muscle	Psoas
22	chr8:124664400-124666600	Active TSS	Left Ventricle	heart
23	chr8:124664600-124666400	Weak transcription	Lung	lung
24	chr8:124664600-124667000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:124664800-124666400	Enhancers	Fetal Brain Male	brain
26	chr8:124664800-124666600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:124665000-124665800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:124665000-124665800	Weak transcription	Right Ventricle	heart
29	chr8:124665000-124665800	Enhancers	NHLF	lung
30	chr8:124665000-124666200	Enhancers	Colon Smooth Muscle	Colon
31	chr8:124665000-124667000	Enhancers	Fetal Intestine Small	intestine
32	chr8:124665000-124667200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:124665000-124669400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:124665200-124666200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr8:124665200-124666200	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr8:124665200-124667000	Weak transcription	Esophagus	oesophagus
37	chr8:124665200-124667200	Enhancers	Fetal Lung	lung
38	chr8:124665200-124667800	Enhancers	NHDF-Ad	bronchial
39	chr8:124665400-124665800	Active TSS	Fetal Muscle Leg	muscle
40	chr8:124665400-124665800	Enhancers	Rectal Smooth Muscle	rectum
41	chr8:124665400-124666000	Enhancers	HepG2	liver
42	chr8:124665400-124667600	Enhancers	Brain Angular Gyrus	brain
43	chr8:124665400-124668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:124665400-124668200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:124665400-124668400	Enhancers	Fetal Intestine Large	intestine

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