Variant report

Variant	rs7003018
Chromosome Location	chr8:68055494-68055495
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	chr8:68053402..68056915-chr8:68068462..68071572,3	K562	blood:
2	chr8:68054368..68056716-chr8:68058153..68060696,2	K562	blood:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10091514	0.81[EUR][1000 genomes]
rs11986053	1.00[JPT][hapmap]
rs11986982	1.00[JPT][hapmap]
rs11992605	1.00[JPT][hapmap]
rs11997404	1.00[JPT][hapmap]
rs1378999	0.87[EUR][1000 genomes]
rs16919053	1.00[JPT][hapmap]
rs16933106	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16933132	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933138	1.00[JPT][hapmap]
rs16933139	1.00[JPT][hapmap]
rs16933160	1.00[JPT][hapmap]
rs16933162	1.00[JPT][hapmap]
rs16933170	1.00[JPT][hapmap]
rs16933173	1.00[JPT][hapmap]
rs16933182	1.00[JPT][hapmap]
rs16933190	1.00[JPT][hapmap]
rs16933204	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933259	0.87[EUR][1000 genomes]
rs17842082	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1808140	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2290585	1.00[JPT][hapmap]
rs2290586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2290587	0.87[EUR][1000 genomes]
rs2305672	1.00[JPT][hapmap]
rs2305673	1.00[JPT][hapmap]
rs28417755	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4072321	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4364616	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4592015	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6984568	1.00[JPT][hapmap]
rs6984597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6986871	0.87[EUR][1000 genomes]
rs6988019	0.81[EUR][1000 genomes]
rs6988547	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6990298	1.00[JPT][hapmap]
rs6990696	0.87[EUR][1000 genomes]
rs6991974	1.00[JPT][hapmap]
rs6998170	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998290	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs7000650	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7004391	0.87[EUR][1000 genomes]
rs7005014	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008877	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7009678	1.00[JPT][hapmap]
rs7018327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461383	1.00[JPT][hapmap]
rs7812859	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7819894	1.00[JPT][hapmap]
rs7819895	1.00[JPT][hapmap]
rs7824775	1.00[JPT][hapmap]
rs7828748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833956	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834516	1.00[JPT][hapmap]
rs7841884	1.00[JPT][hapmap]
rs9693185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1795021	chr8:67995266-68068812	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1846804	chr8:67995266-68074422	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1802127	chr8:67995266-68076723	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7003018	HOOK1	trans	lymphoblastoid	seeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
2	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
3	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
5	chr8:67993400-68085000	Weak transcription	Aorta	Aorta
6	chr8:68008000-68062400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:68021000-68066800	Weak transcription	Lung	lung
8	chr8:68021000-68074400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:68022800-68090800	Weak transcription	Small Intestine	intestine
10	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:68026000-68074400	Weak transcription	Gastric	stomach
12	chr8:68028400-68074400	Weak transcription	Pancreas	Pancrea
13	chr8:68028600-68074400	Weak transcription	NHEK	skin
14	chr8:68029400-68074000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:68033800-68074400	Weak transcription	Colonic Mucosa	Colon
16	chr8:68036000-68074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:68036200-68071400	Weak transcription	Thymus	Thymus
18	chr8:68041200-68077800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:68045000-68067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:68045000-68073200	Weak transcription	HepG2	liver
21	chr8:68045800-68074200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:68046000-68060800	Weak transcription	NHLF	lung
23	chr8:68046000-68074400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:68046400-68056200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:68046400-68073200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:68046400-68074200	Weak transcription	Right Ventricle	heart
27	chr8:68046400-68074400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:68046600-68056600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:68046600-68061800	Weak transcription	Osteobl	bone
30	chr8:68046600-68062000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:68046600-68067200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:68046600-68073800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:68046600-68074400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:68046600-68074400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:68046600-68074400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:68046600-68074600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:68046800-68067200	Weak transcription	Brain Anterior Caudate	brain
38	chr8:68046800-68070600	Weak transcription	NHDF-Ad	bronchial
39	chr8:68046800-68074000	Weak transcription	A549	lung
40	chr8:68046800-68074200	Weak transcription	Brain Angular Gyrus	brain
41	chr8:68046800-68074200	Weak transcription	HMEC	breast
42	chr8:68046800-68074400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:68046800-68076200	Weak transcription	HUVEC	blood vessel
44	chr8:68047200-68062200	Weak transcription	Brain Germinal Matrix	brain
45	chr8:68047200-68066800	Weak transcription	Ovary	ovary
46	chr8:68047200-68074000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:68047200-68074200	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:68047200-68074400	Weak transcription	Fetal Heart	heart
49	chr8:68047200-68074400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:68047200-68075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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