Variant report

Variant	rs1030421
Chromosome Location	chr8:67360762-67360763
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67358368..67361034-chr8:67361272..67364476,3	K562	blood:
2	chr8:67358722..67361670-chr8:67363913..67366041,2	MCF-7	breast:
3	chr8:67360323..67362172-chr8:67364568..67366628,2	K562	blood:
4	chr8:67344388..67346218-chr8:67359592..67361320,2	K562	blood:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1060242	0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.80[ASN][1000 genomes]
rs10957372	0.81[TSI][hapmap]
rs1108	0.92[CEU][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.91[TSI][hapmap];0.80[ASN][1000 genomes]
rs12544088	0.99[ASN][1000 genomes]
rs13682	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap]
rs1978566	0.83[MEX][hapmap]
rs2059640	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2059641	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2059642	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2357894	0.80[ASN][1000 genomes]
rs2465990	0.80[ASN][1000 genomes]
rs2555568	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[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];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2555570	0.88[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2555572	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2555574	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2718988	0.81[TSI][hapmap]
rs2719000	0.80[ASN][1000 genomes]
rs2719002	0.80[ASN][1000 genomes]
rs2719004	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2719005	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2719008	0.92[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35352031	1.00[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs4737798	0.99[ASN][1000 genomes]
rs55878528	0.85[ASN][1000 genomes]
rs6993131	0.96[ASN][1000 genomes]
rs7005590	0.98[ASN][1000 genomes]
rs7014980	1.00[CHB][hapmap];0.83[JPT][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3339106	chr8:67356798-67361196	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs1030421	ADHFE1	cis	Skin Sun Exposed Lower leg	GTEx
rs1030421	ADHFE1	cis	putamen	BrainEAC
rs1030421	ADHFE1	cis	Nerve Tibial	GTEx
rs1030421	ADHFE1	cis	cerebellum	SCAN
rs1030421	C8orf46	cis	Thyroid	GTEx
rs1030421	ADHFE1	cis	Muscle Skeletal	GTEx
rs1030421	ADHFE1	cis	Heart Left Ventricle	GTEx
rs1030421	ADHFE1	cis	parietal	SCAN
rs1030421	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs1030421	C8orf46	cis	Artery Tibial	GTEx
rs1030421	C8orf46	cis	Adipose Subcutaneous	GTEx
rs1030421	ADHFE1	cis	brain	BrainEAC
rs1030421	ADHFE1	cis	substantia nigra	BrainEAC
rs1030421	ADHFE1	cis	multi-tissue	Pritchard
rs1030421	ADHFE1	cis	temporal cortex	BrainEAC
rs1030421	C8orf46	cis	Stomach	GTEx
rs1030421	C8orf46	cis	Esophagus Muscularis	GTEx
rs1030421	C8orf46	cis	Muscle Skeletal	GTEx
rs1030421	C8orf46	cis	lung	GTEx
rs1030421	ADHFE1	cis	frontal cortex	BrainEAC
rs1030421	CPA6	cis	parietal	SCAN
rs1030421	C8orf46	cis	Nerve Tibial	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
2	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
3	chr8:67352200-67361200	Weak transcription	Gastric	stomach
4	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
6	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:67353200-67361000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:67353200-67361200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
14	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
18	chr8:67355000-67361200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:67355000-67365200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:67355400-67361000	Weak transcription	Fetal Stomach	stomach
21	chr8:67356200-67360800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:67356200-67362200	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:67356200-67374400	Strong transcription	Liver	Liver
24	chr8:67356400-67361800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:67356400-67366000	Weak transcription	Fetal Brain Female	brain
26	chr8:67356800-67365600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr8:67357200-67360800	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:67357400-67365000	Weak transcription	Primary T cells from cord blood	blood
29	chr8:67357800-67363400	Strong transcription	Left Ventricle	heart
30	chr8:67358400-67360800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:67358400-67364200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:67358600-67364600	Weak transcription	Right Atrium	heart
33	chr8:67358600-67365800	Strong transcription	Fetal Lung	lung
34	chr8:67358800-67360800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:67358800-67360800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:67358800-67360800	Weak transcription	Pancreas	Pancrea
37	chr8:67358800-67361200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:67358800-67361400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:67358800-67365400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:67359000-67360800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:67359000-67360800	Weak transcription	Brain Substantia Nigra	brain
42	chr8:67359000-67360800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:67359000-67361400	Weak transcription	Osteobl	bone
44	chr8:67359000-67361600	Weak transcription	Brain Angular Gyrus	brain
45	chr8:67359000-67362000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:67359000-67365000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:67359000-67365200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:67359000-67365400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
50	chr8:67359200-67360800	Weak transcription	Brain Inferior Temporal Lobe	brain

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