Variant report

Variant	rs2525729
Chromosome Location	chr7:120618384-120618385
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120617320..120619610-chr7:120694736..120697163,2	K562	blood:
2	chr7:120614613..120620636-chr7:120722021..120725742,5	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2074577	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244863	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244865	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2248890	0.81[AMR][1000 genomes]
rs2525712	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2525713	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2525719	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2525730	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2525736	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2525737	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2525741	0.81[ASN][1000 genomes]
rs2721363	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721365	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721367	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721372	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41688	0.81[ASN][1000 genomes]
rs41689	0.81[ASN][1000 genomes]
rs41690	0.89[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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2525729	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120591600-120627800	Weak transcription	Pancreas	Pancrea
2	chr7:120591800-120618600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:120592400-120618600	Weak transcription	Right Ventricle	heart
4	chr7:120592400-120621600	Weak transcription	Aorta	Aorta
5	chr7:120592400-120628000	Weak transcription	Stomach Mucosa	stomach
6	chr7:120604400-120621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:120608200-120621800	Weak transcription	NHEK	skin
8	chr7:120608600-120627600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:120609400-120622400	Weak transcription	Gastric	stomach
10	chr7:120609400-120627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:120609400-120627800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:120609400-120628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:120611600-120619400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:120611600-120619400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:120611600-120620000	Weak transcription	Fetal Heart	heart
16	chr7:120611600-120621800	Weak transcription	HMEC	breast
17	chr7:120611600-120622000	Weak transcription	Fetal Intestine Small	intestine
18	chr7:120611600-120622200	Weak transcription	HSMMtube	muscle
19	chr7:120611600-120624000	Weak transcription	Fetal Brain Male	brain
20	chr7:120611600-120626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:120611600-120627400	Weak transcription	Brain Angular Gyrus	brain
22	chr7:120611600-120627600	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:120611600-120627600	Weak transcription	Fetal Stomach	stomach
24	chr7:120611600-120627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:120611600-120627800	Weak transcription	Esophagus	oesophagus
26	chr7:120611600-120627800	Weak transcription	Thymus	Thymus
27	chr7:120611800-120619800	Weak transcription	A549	lung
28	chr7:120611800-120620200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:120611800-120620400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:120611800-120621800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:120612000-120618600	Weak transcription	Brain Germinal Matrix	brain
32	chr7:120615000-120627600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:120615200-120618800	Weak transcription	Psoas Muscle	Psoas
34	chr7:120615200-120619600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:120615200-120621800	Weak transcription	GM12878-XiMat	blood
36	chr7:120615400-120619000	Weak transcription	Fetal Kidney	kidney
37	chr7:120615400-120619200	Weak transcription	NHDF-Ad	bronchial
38	chr7:120615400-120619600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:120615400-120619800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:120615400-120620400	Weak transcription	Fetal Brain Female	brain
41	chr7:120615400-120621800	Weak transcription	K562	blood
42	chr7:120615400-120627800	Weak transcription	Colonic Mucosa	Colon
43	chr7:120615400-120628000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:120615600-120619000	Weak transcription	Fetal Lung	lung
45	chr7:120615600-120619200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:120615600-120619200	Weak transcription	Osteobl	bone
47	chr7:120615600-120620000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:120615600-120621600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:120615600-120621800	Weak transcription	Brain Substantia Nigra	brain
50	chr7:120615600-120622000	Weak transcription	H1 Cell Line	embryonic stem cell

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