Variant report

Variant	rs7814222
Chromosome Location	chr8:121270355-121270356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121270244..121271851-chr8:121273792..121276253,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10092516	0.83[ASN][1000 genomes]
rs10100841	0.86[CHB][hapmap]
rs10955968	0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11775222	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs11781559	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs11781561	0.86[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11783320	0.86[CHB][hapmap]
rs12678374	0.85[CHB][hapmap]
rs1531131	0.86[CHB][hapmap]
rs1563388	0.82[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs1563389	0.86[CHB][hapmap]
rs1869831	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs1869832	0.86[CHB][hapmap]
rs1993390	0.83[ASN][1000 genomes]
rs1993391	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2100540	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2124470	0.83[ASN][1000 genomes]
rs2198748	0.86[CHB][hapmap]
rs2219240	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2219241	0.83[ASN][1000 genomes]
rs2219242	0.86[CHB][hapmap]
rs2290520	0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2305609	0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4279641	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4871056	0.86[CHB][hapmap]
rs57514813	0.83[ASN][1000 genomes]
rs6469905	0.86[CHB][hapmap]
rs6469909	0.86[CHB][hapmap]
rs6469910	0.86[CHB][hapmap]
rs6469911	0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6469912	0.82[ASN][1000 genomes]
rs6469913	0.86[CHB][hapmap]
rs6469915	0.86[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6983911	0.86[CHB][hapmap]
rs6994888	0.86[CHB][hapmap]
rs7003797	0.85[CHB][hapmap]
rs7004099	0.86[CHB][hapmap]
rs7006048	0.82[ASN][1000 genomes]
rs7006555	0.86[CHB][hapmap]
rs7010688	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7017945	0.86[CHB][hapmap]
rs7341686	0.82[ASN][1000 genomes]
rs7817097	0.86[CHB][hapmap]
rs7817682	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs7819160	0.86[CHB][hapmap]
rs7827901	0.86[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7829213	0.86[CHB][hapmap]
rs7830625	0.86[CHB][hapmap]
rs7834446	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7835757	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7839121	0.83[ASN][1000 genomes]
rs7844334	0.86[CHB][hapmap]
rs7844938	0.86[CHB][hapmap]
rs959370	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7814222	MAL2	cis	parietal	SCAN
rs7814222	NOV	cis	parietal	SCAN
rs7814222	ZHX1	cis	parietal	SCAN
rs7814222	SNTB1	cis	parietal	SCAN
rs7814222	SLC30A8	cis	parietal	SCAN
rs7814222	SLC30A8	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121254600-121278400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:121254800-121278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:121255400-121278400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:121258000-121274600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121260400-121271800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:121262000-121275400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:121262800-121283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:121263800-121271800	Weak transcription	Placenta	Placenta
9	chr8:121263800-121275600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:121264000-121270400	Weak transcription	Ovary	ovary
11	chr8:121265800-121278600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:121267600-121275200	Weak transcription	Fetal Stomach	stomach
13	chr8:121267800-121283400	Weak transcription	Aorta	Aorta
14	chr8:121268600-121271200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:121269000-121270600	Enhancers	Fetal Lung	lung
16	chr8:121269200-121270400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:121269200-121270600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:121269200-121272000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:121269200-121272200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:121269200-121272200	Enhancers	NHDF-Ad	bronchial
21	chr8:121269400-121272200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:121269600-121270600	Enhancers	Fetal Kidney	kidney
23	chr8:121269600-121271200	Enhancers	Colon Smooth Muscle	Colon
24	chr8:121269600-121272200	Enhancers	HUVEC	blood vessel
25	chr8:121269800-121270800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:121269800-121271200	Enhancers	Fetal Intestine Small	intestine
27	chr8:121269800-121271400	Enhancers	NH-A	brain
28	chr8:121269800-121272000	Enhancers	NHLF	lung
29	chr8:121270000-121270400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:121270000-121270400	Weak transcription	Adipose Nuclei	Adipose
31	chr8:121270000-121270800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:121270000-121271000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:121270000-121271200	Enhancers	Fetal Intestine Large	intestine
34	chr8:121270200-121270400	Weak transcription	HSMMtube	muscle
35	chr8:121270200-121270600	Enhancers	Rectal Smooth Muscle	rectum
36	chr8:121270200-121271000	Enhancers	HMEC	breast
37	chr8:121270200-121271000	Enhancers	HSMM	muscle
38	chr8:121270200-121272200	Enhancers	Osteobl	bone

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