Variant report

Variant	rs2721365
Chromosome Location	chr7:120623983-120623984
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120622360..120624789-chr7:120627445..120629429,3	K562	blood:
2	chr7:120622642..120624338-chr7:120624667..120626865,2	K562	blood:
3	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10272601	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	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244863	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244865	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248890	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2525705	0.82[ASN][1000 genomes]
rs2525709	0.81[ASN][1000 genomes]
rs2525712	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525713	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525719	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525729	0.95[AMR][1000 genomes];0.88[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	0.92[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	0.81[ASN][1000 genomes]
rs2721354	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2721358	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721363	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721367	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757556	0.81[ASN][1000 genomes]
rs41688	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41689	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41690	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964344	0.81[ASN][1000 genomes]
rs745167	0.81[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	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
rs2721365	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120591600-120627800	Weak transcription	Pancreas	Pancrea
2	chr7:120592400-120628000	Weak transcription	Stomach Mucosa	stomach
3	chr7:120608600-120627600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:120609400-120627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:120609400-120627800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:120609400-120628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:120611600-120624000	Weak transcription	Fetal Brain Male	brain
8	chr7:120611600-120626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:120611600-120627400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:120611600-120627600	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:120611600-120627600	Weak transcription	Fetal Stomach	stomach
12	chr7:120611600-120627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:120611600-120627800	Weak transcription	Esophagus	oesophagus
14	chr7:120611600-120627800	Weak transcription	Thymus	Thymus
15	chr7:120615000-120627600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:120615400-120627800	Weak transcription	Colonic Mucosa	Colon
17	chr7:120615400-120628000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:120615600-120624400	Weak transcription	Hela-S3	cervix
19	chr7:120615600-120627400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:120615600-120627600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:120615600-120627800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:120615600-120627800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:120615600-120627800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:120615600-120628000	Weak transcription	Small Intestine	intestine
25	chr7:120615800-120627800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:120616000-120627400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:120616000-120627600	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:120616200-120627400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:120616200-120627400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:120616200-120627400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:120616200-120627800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:120616200-120627800	Weak transcription	Fetal Intestine Large	intestine
33	chr7:120616600-120627600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:120616600-120627600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:120616800-120628000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:120617000-120627000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:120617000-120627800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:120617000-120627800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:120617200-120627800	Weak transcription	Adipose Nuclei	Adipose
40	chr7:120617200-120627800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:120617200-120627800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:120617200-120627800	Weak transcription	Left Ventricle	heart
43	chr7:120617400-120624800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:120617400-120627800	Weak transcription	Liver	Liver
45	chr7:120617400-120627800	Weak transcription	Placenta	Placenta
46	chr7:120617400-120627800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:120617400-120627800	Weak transcription	HUVEC	blood vessel
48	chr7:120618000-120627800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:120620400-120627800	Weak transcription	Right Atrium	heart
50	chr7:120620800-120628600	Weak transcription	Placenta Amnion	Placenta Amnion

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