Variant report

Variant	rs62483275
Chromosome Location	chr7:128169665-128169666
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:128169583-128173092	H1-hESC	embryonic stem cell:	n/a	n/a

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
ENSG00000242588	TF binding region
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000146872	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000165055	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10954186	0.83[EUR][1000 genomes]
rs11973151	0.85[EUR][1000 genomes]
rs12669878	0.87[EUR][1000 genomes]
rs12670251	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12671391	0.83[EUR][1000 genomes]
rs12671449	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12671633	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12673746	0.91[EUR][1000 genomes]
rs1839595	0.81[EUR][1000 genomes]
rs34648097	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34682318	0.82[EUR][1000 genomes]
rs4448212	0.88[EUR][1000 genomes]
rs4490755	0.81[EUR][1000 genomes]
rs4530963	0.81[EUR][1000 genomes]
rs4731485	0.84[EUR][1000 genomes]
rs55744429	0.83[EUR][1000 genomes]
rs56329212	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57968683	0.83[EUR][1000 genomes]
rs58210776	0.87[EUR][1000 genomes]
rs59475830	0.81[EUR][1000 genomes]
rs59955357	0.81[EUR][1000 genomes]
rs60796599	0.83[EUR][1000 genomes]
rs61479217	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62481136	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62481142	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62481155	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62481886	0.81[EUR][1000 genomes]
rs62481894	0.81[EUR][1000 genomes]
rs62481898	0.81[EUR][1000 genomes]
rs62483264	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483265	0.83[EUR][1000 genomes]
rs62483267	0.82[EUR][1000 genomes]
rs62483269	0.85[EUR][1000 genomes]
rs62483273	0.83[EUR][1000 genomes]
rs62483274	0.86[EUR][1000 genomes]
rs62483276	0.87[EUR][1000 genomes]
rs62483280	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62483285	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62483299	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62483349	0.85[EUR][1000 genomes]
rs62483350	0.90[EUR][1000 genomes]
rs6946411	0.88[EUR][1000 genomes]
rs6973650	0.84[EUR][1000 genomes]
rs7783334	0.82[EUR][1000 genomes]
rs7799914	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809300	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9689994	0.81[EUR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs62483275	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs62483275	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs62483275	RP11-274B21.4	cis	Whole Blood	GTEx
rs62483275	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs62483275	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128163600-128169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:128163600-128169800	Weak transcription	Psoas Muscle	Psoas
3	chr7:128163600-128170400	Weak transcription	Lung	lung
4	chr7:128163800-128169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:128163800-128169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:128163800-128169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:128163800-128169800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:128163800-128169800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:128163800-128169800	Weak transcription	Brain Anterior Caudate	brain
10	chr7:128163800-128169800	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:128163800-128169800	Weak transcription	Fetal Stomach	stomach
12	chr7:128163800-128169800	Weak transcription	Left Ventricle	heart
13	chr7:128163800-128169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:128163800-128169800	Weak transcription	Small Intestine	intestine
15	chr7:128163800-128169800	Weak transcription	Dnd41	blood
16	chr7:128163800-128169800	Weak transcription	GM12878-XiMat	blood
17	chr7:128163800-128170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:128163800-128170000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:128163800-128170000	Weak transcription	Stomach Mucosa	stomach
20	chr7:128163800-128170000	Weak transcription	NH-A	brain
21	chr7:128163800-128170200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:128163800-128170200	Weak transcription	Fetal Thymus	thymus
23	chr7:128164000-128169800	Weak transcription	Adipose Nuclei	Adipose
24	chr7:128164000-128169800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:128164000-128170200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:128164200-128169800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:128164200-128169800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:128164200-128169800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:128164400-128169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:128164400-128169800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:128164400-128169800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:128164400-128169800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:128164400-128169800	Weak transcription	Pancreas	Pancrea
34	chr7:128164400-128169800	Weak transcription	K562	blood
35	chr7:128164400-128170000	Weak transcription	Fetal Lung	lung
36	chr7:128164400-128170000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:128164400-128170000	Weak transcription	Hela-S3	cervix
38	chr7:128164400-128170200	Weak transcription	Colonic Mucosa	Colon
39	chr7:128164400-128170200	Weak transcription	Fetal Intestine Large	intestine
40	chr7:128164400-128170200	Weak transcription	Fetal Intestine Small	intestine
41	chr7:128164400-128170200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:128164400-128170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:128164800-128169800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:128165000-128169800	Weak transcription	Spleen	Spleen
45	chr7:128166000-128169800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:128166000-128169800	Weak transcription	Fetal Heart	heart
47	chr7:128166000-128169800	Weak transcription	Right Atrium	heart
48	chr7:128166200-128170000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:128166400-128169800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:128166600-128169800	Weak transcription	A549	lung

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