Variant report

Variant	rs62483274
Chromosome Location	chr7:128169538-128169539
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128154968..128157377-chr7:128169188..128171020,2	K562	blood:
2	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:
3	chr17:60555522..60557036-chr7:128169502..128171568,2	MCF-7	breast:
4	chr7:128094511..128096087-chr7:128168839..128171295,2	K562	blood:

Variant related genes	Relation type
ENSG00000135245	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000146872	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10085580	0.85[ASN][1000 genomes]
rs10215560	0.81[ASN][1000 genomes]
rs10215566	0.81[ASN][1000 genomes]
rs10215947	0.81[ASN][1000 genomes]
rs10229874	0.81[ASN][1000 genomes]
rs10237278	0.81[ASN][1000 genomes]
rs10243137	0.87[ASN][1000 genomes]
rs10464537	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10464538	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10954193	0.81[ASN][1000 genomes]
rs12667202	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12670251	0.83[EUR][1000 genomes]
rs12670432	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12671391	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672443	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12673048	0.82[ASN][1000 genomes]
rs12673060	0.83[ASN][1000 genomes]
rs13438170	0.81[ASN][1000 genomes]
rs1809082	0.80[ASN][1000 genomes]
rs2443110	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34648097	0.81[EUR][1000 genomes]
rs34682318	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857849	0.80[ASN][1000 genomes]
rs4079003	0.80[ASN][1000 genomes]
rs4260830	0.81[ASN][1000 genomes]
rs4562239	0.81[ASN][1000 genomes]
rs4579449	0.81[ASN][1000 genomes]
rs4728123	0.80[ASN][1000 genomes]
rs4731482	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4731484	0.81[ASN][1000 genomes]
rs4731486	0.81[ASN][1000 genomes]
rs4731488	0.80[ASN][1000 genomes]
rs55660721	0.87[ASN][1000 genomes]
rs55744429	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55860694	0.84[ASN][1000 genomes]
rs55982013	0.84[ASN][1000 genomes]
rs56030011	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56052829	0.83[ASN][1000 genomes]
rs56111366	0.84[ASN][1000 genomes]
rs56189614	0.83[ASN][1000 genomes]
rs56208431	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56278047	0.83[ASN][1000 genomes]
rs57226192	0.83[ASN][1000 genomes]
rs57754703	0.86[ASN][1000 genomes]
rs57968683	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58133562	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59066415	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59154282	0.83[ASN][1000 genomes]
rs59594227	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs60473286	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs60515997	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs60781570	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs60796599	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61146845	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61312980	0.84[ASN][1000 genomes]
rs62479751	0.83[ASN][1000 genomes]
rs62479756	0.83[ASN][1000 genomes]
rs62479757	0.83[ASN][1000 genomes]
rs62481155	0.84[EUR][1000 genomes]
rs62481158	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62483260	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62483261	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62483264	0.84[EUR][1000 genomes]
rs62483265	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62483266	0.82[ASN][1000 genomes]
rs62483267	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62483268	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483269	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62483272	0.89[EUR][1000 genomes]
rs62483273	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483275	0.86[EUR][1000 genomes]
rs62483276	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62483280	0.83[EUR][1000 genomes]
rs62483286	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62483298	0.86[ASN][1000 genomes]
rs62483302	0.85[ASN][1000 genomes]
rs62483305	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62483342	0.81[ASN][1000 genomes]
rs62483348	0.83[ASN][1000 genomes]
rs6467185	0.83[ASN][1000 genomes]
rs6467186	0.83[ASN][1000 genomes]
rs6467188	0.81[ASN][1000 genomes]
rs6467189	0.81[ASN][1000 genomes]
rs6467194	0.81[ASN][1000 genomes]
rs6467195	0.81[ASN][1000 genomes]
rs6467196	0.80[ASN][1000 genomes]
rs6954284	0.83[ASN][1000 genomes]
rs6954404	0.83[ASN][1000 genomes]
rs73233862	0.83[ASN][1000 genomes]
rs7385007	0.83[ASN][1000 genomes]
rs7783334	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7786336	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7792915	0.81[ASN][1000 genomes]
rs7793136	0.81[ASN][1000 genomes]
rs7799914	0.81[EUR][1000 genomes]
rs7809300	0.82[EUR][1000 genomes]
rs9641823	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9641824	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9641826	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9641827	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs62483274	RP11-274B21.1	cis	lung	GTEx
rs62483274	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs62483274	RP11-274B21.1	cis	Artery Tibial	GTEx
rs62483274	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs62483274	RP11-274B21.4	cis	Whole Blood	GTEx
rs62483274	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs62483274	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs62483274	RP11-274B21.9	cis	Esophagus Mucosa	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128163600-128169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:128163600-128169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:128163600-128169800	Weak transcription	Psoas Muscle	Psoas
4	chr7:128163600-128170400	Weak transcription	Lung	lung
5	chr7:128163800-128169600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:128163800-128169600	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:128163800-128169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:128163800-128169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:128163800-128169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:128163800-128169800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:128163800-128169800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:128163800-128169800	Weak transcription	Brain Anterior Caudate	brain
13	chr7:128163800-128169800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:128163800-128169800	Weak transcription	Fetal Stomach	stomach
15	chr7:128163800-128169800	Weak transcription	Left Ventricle	heart
16	chr7:128163800-128169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:128163800-128169800	Weak transcription	Small Intestine	intestine
18	chr7:128163800-128169800	Weak transcription	Dnd41	blood
19	chr7:128163800-128169800	Weak transcription	GM12878-XiMat	blood
20	chr7:128163800-128170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:128163800-128170000	Weak transcription	Brain Substantia Nigra	brain
22	chr7:128163800-128170000	Weak transcription	Stomach Mucosa	stomach
23	chr7:128163800-128170000	Weak transcription	NH-A	brain
24	chr7:128163800-128170200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:128163800-128170200	Weak transcription	Fetal Thymus	thymus
26	chr7:128164000-128169800	Weak transcription	Adipose Nuclei	Adipose
27	chr7:128164000-128169800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:128164000-128170200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:128164200-128169800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:128164200-128169800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:128164200-128169800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:128164400-128169600	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:128164400-128169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:128164400-128169800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:128164400-128169800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:128164400-128169800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:128164400-128169800	Weak transcription	Pancreas	Pancrea
38	chr7:128164400-128169800	Weak transcription	K562	blood
39	chr7:128164400-128170000	Weak transcription	Fetal Lung	lung
40	chr7:128164400-128170000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:128164400-128170000	Weak transcription	Hela-S3	cervix
42	chr7:128164400-128170200	Weak transcription	Colonic Mucosa	Colon
43	chr7:128164400-128170200	Weak transcription	Fetal Intestine Large	intestine
44	chr7:128164400-128170200	Weak transcription	Fetal Intestine Small	intestine
45	chr7:128164400-128170200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:128164400-128170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:128164600-128169600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:128164800-128169800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:128165000-128169800	Weak transcription	Spleen	Spleen
50	chr7:128166000-128169800	Weak transcription	Brain Inferior Temporal Lobe	brain

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