Variant report

Variant	rs7000650
Chromosome Location	chr8:67955258-67955259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67954083..67956145-chr8:67960626..67964326,3	K562	blood:
2	chr8:67954769..67956807-chr8:67973555..67976351,3	MCF-7	breast:
3	chr8:67835785..67837537-chr8:67954623..67956454,2	MCF-7	breast:
4	chr8:67949904..67952713-chr8:67954719..67957180,2	K562	blood:
5	chr8:67952940..67955434-chr8:67955760..67957321,2	K562	blood:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
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	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16933132	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[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]
rs1808140	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[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];1.00[ASN][1000 genomes]
rs4364616	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[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];1.00[ASN][1000 genomes]
rs6985273	0.81[GIH][hapmap]
rs6986871	0.87[EUR][1000 genomes]
rs6988547	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[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];1.00[MEX][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]
rs6998290	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs7003018	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[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008877	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7009678	1.00[JPT][hapmap]
rs7018327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[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];1.00[MEX][hapmap]
rs7820420	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs7824775	1.00[JPT][hapmap]
rs7828748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833956	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[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]
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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802652	chr8:67894007-67964309	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7000650	HOOK1	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67941200-67957400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:67941600-67956000	Weak transcription	Brain Germinal Matrix	brain
3	chr8:67941600-67963000	Weak transcription	Fetal Heart	heart
4	chr8:67946000-67959800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:67947400-67955400	Weak transcription	HMEC	breast
6	chr8:67948400-67960000	Weak transcription	Gastric	stomach
7	chr8:67949800-67960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:67950400-67955400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:67950400-67957600	Weak transcription	NHEK	skin
10	chr8:67951000-67956400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:67951200-67959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:67951400-67957600	Weak transcription	Colonic Mucosa	Colon
13	chr8:67951400-67957600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:67951400-67957600	Weak transcription	HSMMtube	muscle
15	chr8:67951600-67956400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:67951600-67957600	Weak transcription	HUVEC	blood vessel
17	chr8:67951800-67956000	Weak transcription	Brain Angular Gyrus	brain
18	chr8:67951800-67956200	Weak transcription	Fetal Brain Female	brain
19	chr8:67951800-67957600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:67951800-67957600	Weak transcription	Fetal Brain Male	brain
21	chr8:67951800-67961400	Weak transcription	Right Ventricle	heart
22	chr8:67952000-67961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:67952200-67955400	Weak transcription	Fetal Kidney	kidney
24	chr8:67952200-67956200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:67952200-67956200	Weak transcription	Aorta	Aorta
26	chr8:67952200-67956200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:67952200-67957200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:67952200-67960000	Weak transcription	Pancreas	Pancrea
29	chr8:67952400-67956600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:67952400-67956600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:67952400-67973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:67952600-67955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:67952600-67956200	Weak transcription	Ovary	ovary
34	chr8:67952600-67957200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:67952600-67972000	Weak transcription	Stomach Mucosa	stomach
36	chr8:67952800-67955400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:67952800-67956200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:67952800-67956200	Weak transcription	NHLF	lung
39	chr8:67952800-67957600	Weak transcription	K562	blood
40	chr8:67952800-67962600	Weak transcription	Esophagus	oesophagus
41	chr8:67952800-67972000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:67952800-67973600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:67953000-67957600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:67953000-67972800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:67953200-67966600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:67953400-67956400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:67953400-67971600	Strong transcription	Fetal Intestine Large	intestine
48	chr8:67953600-67956600	Weak transcription	Osteobl	bone
49	chr8:67953600-67957000	Weak transcription	HepG2	liver
50	chr8:67953600-67967000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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