Variant report

Variant	rs2721367
Chromosome Location	chr7:120616493-120616494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120616082..120617788-chr7:120647461..120650370,2	K562	blood:
2	chr7:120614613..120620636-chr7:120722021..120725742,5	K562	blood:
3	chr7:120611920..120613871-chr7:120614281..120617213,2	K562	blood:
4	chr7:120615317..120617006-chr7:120717318..120719409,2	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10252911	0.84[CHB][hapmap]
rs10272601	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs10464522	0.81[ASN][1000 genomes]
rs10953922	0.81[ASN][1000 genomes]
rs1557857	0.82[ASN][1000 genomes]
rs1859318	0.82[ASN][1000 genomes]
rs1859319	0.82[ASN][1000 genomes]
rs2074577	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244863	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244865	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248890	0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2525705	0.82[ASN][1000 genomes]
rs2525709	0.81[ASN][1000 genomes]
rs2525712	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525713	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525719	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525729	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2525730	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2525736	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2525737	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525741	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2525743	0.81[ASN][1000 genomes]
rs2721341	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2721354	0.94[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2721358	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721363	1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721372	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757556	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs3779386	0.84[CHB][hapmap]
rs41688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41689	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41690	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964344	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs745167	0.81[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
rs2721367	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:118 , 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	chr7:120592400-120617000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:120592400-120618600	Weak transcription	Right Ventricle	heart
5	chr7:120592400-120621600	Weak transcription	Aorta	Aorta
6	chr7:120592400-120628000	Weak transcription	Stomach Mucosa	stomach
7	chr7:120602600-120617200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:120603000-120618000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:120603200-120618000	Strong transcription	Fetal Thymus	thymus
10	chr7:120603400-120617200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:120603600-120616800	Strong transcription	Dnd41	blood
12	chr7:120604200-120617000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:120604400-120616800	Strong transcription	Primary hematopoietic stem cells	blood
14	chr7:120604400-120617000	Strong transcription	Primary B cells from cord blood	blood
15	chr7:120604400-120617000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:120604400-120617200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:120604400-120617400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr7:120604400-120621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:120604600-120617000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr7:120604600-120617400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:120604600-120617400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr7:120604600-120617400	Strong transcription	Liver	Liver
23	chr7:120604600-120617400	Strong transcription	HSMM	muscle
24	chr7:120604800-120616600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:120604800-120617000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:120604800-120617000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:120604800-120617200	Strong transcription	Adipose Nuclei	Adipose
28	chr7:120604800-120617200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr7:120604800-120617400	Strong transcription	Placenta	Placenta
30	chr7:120604800-120617400	Strong transcription	HUVEC	blood vessel
31	chr7:120605000-120617000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:120606000-120617200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:120608000-120616600	Strong transcription	NHLF	lung
34	chr7:120608200-120621800	Weak transcription	NHEK	skin
35	chr7:120608600-120617400	Weak transcription	Ovary	ovary
36	chr7:120608600-120627600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:120609400-120617000	Weak transcription	Spleen	Spleen
38	chr7:120609400-120622400	Weak transcription	Gastric	stomach
39	chr7:120609400-120627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:120609400-120627800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:120609400-120628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:120610400-120617200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:120610400-120617200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:120611600-120617400	Weak transcription	Lung	lung
45	chr7:120611600-120619400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:120611600-120619400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:120611600-120620000	Weak transcription	Fetal Heart	heart
48	chr7:120611600-120621800	Weak transcription	HMEC	breast
49	chr7:120611600-120622000	Weak transcription	Fetal Intestine Small	intestine
50	chr7:120611600-120622200	Weak transcription	HSMMtube	muscle

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