Variant report

Variant	rs2721359
Chromosome Location	chr7:120631362-120631363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120631360..120633454-chr7:120681264..120683155,2	K562	blood:
2	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
3	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
4	chr7:120631348..120633454-chr7:120680148..120684056,4	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10229719	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10258025	0.96[EUR][1000 genomes]
rs11363	0.81[EUR][1000 genomes]
rs12672149	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13881	0.80[EUR][1000 genomes]
rs193727	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2013083	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2013087	0.82[AMR][1000 genomes]
rs2215786	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2215789	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2525715	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2525725	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2525728	0.81[EUR][1000 genomes]
rs2525731	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2525732	0.82[EUR][1000 genomes]
rs2525733	0.82[EUR][1000 genomes]
rs2525734	0.82[EUR][1000 genomes]
rs2525735	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2525736	0.82[EUR][1000 genomes]
rs2525738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525741	0.85[EUR][1000 genomes]
rs2721350	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2721358	0.85[EUR][1000 genomes]
rs2721361	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721363	0.80[EUR][1000 genomes]
rs2721366	0.81[EUR][1000 genomes]
rs2721370	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2896299	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3944026	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41688	0.85[EUR][1000 genomes]
rs41689	0.85[EUR][1000 genomes]
rs41691	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41692	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41693	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41694	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41695	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41697	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41703	0.96[EUR][1000 genomes]
rs41704	0.96[EUR][1000 genomes]
rs4727915	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4730985	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4730987	0.82[AMR][1000 genomes]
rs6966297	0.88[EUR][1000 genomes]
rs6973457	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7789501	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7808535	0.86[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	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
rs2721359	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120627600-120633800	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:120627800-120632000	Active TSS	Brain Hippocampus Middle	brain
3	chr7:120627800-120632000	Active TSS	Psoas Muscle	Psoas
4	chr7:120627800-120632200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:120627800-120632200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:120627800-120632400	Active TSS	Colon Smooth Muscle	Colon
7	chr7:120627800-120633000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:120627800-120633000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:120627800-120633000	Active TSS	NHDF-Ad	bronchial
10	chr7:120627800-120633200	Active TSS	Right Atrium	heart
11	chr7:120627800-120633600	Active TSS	Ovary	ovary
12	chr7:120627800-120633800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:120627800-120633800	Active TSS	Aorta	Aorta
14	chr7:120627800-120633800	Active TSS	Right Ventricle	heart
15	chr7:120628200-120632400	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:120628200-120632400	Active TSS	K562	blood
17	chr7:120628200-120633800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:120628400-120632400	Active TSS	HSMM	muscle
19	chr7:120628400-120633000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr7:120628600-120631600	Active TSS	Liver	Liver
21	chr7:120628600-120632600	Active TSS	Fetal Muscle Leg	muscle
22	chr7:120628600-120633000	Active TSS	HSMMtube	muscle
23	chr7:120628800-120633600	Active TSS	NHLF	lung
24	chr7:120629000-120632200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:120629200-120632600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr7:120629200-120632800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:120629200-120633000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr7:120629400-120634000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:120629600-120631400	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:120629600-120632000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr7:120629600-120632200	Active TSS	Fetal Kidney	kidney
32	chr7:120629600-120635800	Weak transcription	Primary B cells from cord blood	blood
33	chr7:120629800-120631400	Weak transcription	Hela-S3	cervix
34	chr7:120629800-120633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:120630000-120632000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr7:120630000-120632600	Active TSS	Fetal Stomach	stomach
37	chr7:120630000-120632800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:120630000-120633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:120630000-120633600	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr7:120630000-120636400	Weak transcription	HMEC	breast
41	chr7:120630200-120631800	Active TSS	Fetal Lung	lung
42	chr7:120630200-120632200	Active TSS	NH-A	brain
43	chr7:120630200-120633800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:120630200-120636200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:120630200-120636200	Weak transcription	Placenta	Placenta
46	chr7:120630400-120631400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr7:120630600-120631800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr7:120630600-120631800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:120630600-120631800	Flanking Active TSS	Osteobl	bone
50	chr7:120630800-120631800	Bivalent Enhancer	GM12878-XiMat	blood

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