Variant report

Variant	rs12530583
Chromosome Location	chr7:121718492-121718493
allele	C/T
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	chr7:121716374-121719354	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNU7-154P	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10488107	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1147489	0.90[ASN][1000 genomes]
rs1147498	0.80[ASN][1000 genomes]
rs11977512	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12113399	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538079	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17616983	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2109333	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2268077	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300199	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727938	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57341517	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59110694	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59224714	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59529453	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59993706	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60159595	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61624073	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6948443	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6952698	0.87[ASN][1000 genomes]
rs6954944	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72499551	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224332	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73224336	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73224339	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73226257	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73226277	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73226300	0.82[ASN][1000 genomes]
rs7784030	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7810763	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608334	chr7:121670522-121725961	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	3 gene(s)	inside rSNPs	diseases
2	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121684400-121734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:121685400-121725200	Weak transcription	NHEK	skin
4	chr7:121694400-121726000	Weak transcription	Fetal Brain Male	brain
5	chr7:121699400-121721000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:121700800-121721200	Weak transcription	Brain Germinal Matrix	brain
7	chr7:121701200-121719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:121704600-121725200	Weak transcription	HSMMtube	muscle
10	chr7:121705800-121724400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:121713600-121732000	Strong transcription	Liver	Liver
12	chr7:121713800-121731800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr7:121714000-121719400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:121714000-121724000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:121714200-121733000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:121714600-121723200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:121714800-121719800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:121714800-121721800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:121714800-121733200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:121715000-121721400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:121715200-121730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:121715200-121733200	Weak transcription	NHLF	lung
23	chr7:121715200-121740200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:121715400-121718800	Weak transcription	HMEC	breast
25	chr7:121715400-121752000	Weak transcription	NH-A	brain
26	chr7:121715600-121723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:121715800-121727400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:121715800-121735200	Weak transcription	Spleen	Spleen
29	chr7:121716000-121722800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:121716000-121723600	Weak transcription	Gastric	stomach
31	chr7:121716000-121725200	Weak transcription	Esophagus	oesophagus
32	chr7:121716000-121728400	Weak transcription	HepG2	liver
33	chr7:121716000-121731800	Strong transcription	Left Ventricle	heart
34	chr7:121716000-121738400	Weak transcription	Brain Angular Gyrus	brain
35	chr7:121716000-121772000	Weak transcription	Osteobl	bone
36	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:121716200-121725000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:121716200-121733000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:121716200-121741000	Weak transcription	HSMM	muscle
40	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:121716400-121719400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:121716400-121720400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:121716400-121721600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:121716400-121721600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:121716400-121726400	Strong transcription	Adipose Nuclei	Adipose
46	chr7:121716600-121719000	Strong transcription	Psoas Muscle	Psoas
47	chr7:121716600-121719200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:121716600-121721600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:121716600-121721600	Strong transcription	Ovary	ovary
50	chr7:121716600-121722600	Strong transcription	Fetal Muscle Leg	muscle

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