Variant report

Variant	rs73721472
Chromosome Location	chr7:120476156-120476157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120466725..120468926-chr7:120474819..120476426,2	K562	blood:
2	chr7:120474789..120476459-chr7:120479485..120482303,2	K562	blood:
3	chr7:120475241..120477501-chr7:120481801..120483425,2	MCF-7	breast:
4	chr7:120467426..120469359-chr7:120473701..120476319,2	K562	blood:
5	chr7:120465079..120466716-chr7:120474858..120476670,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs114420	0.87[ASN][1000 genomes]
rs11976580	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673417	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17132731	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17142976	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17142995	0.80[EUR][1000 genomes]
rs17143001	0.87[EUR][1000 genomes]
rs17143009	0.87[EUR][1000 genomes]
rs17143013	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2189974	0.87[ASN][1000 genomes]
rs2721332	0.87[ASN][1000 genomes]
rs2721344	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721346	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721348	0.87[ASN][1000 genomes]
rs2721360	0.87[ASN][1000 genomes]
rs2721371	0.87[ASN][1000 genomes]
rs3823859	0.81[EUR][1000 genomes]
rs41612	0.82[ASN][1000 genomes]
rs41613	0.94[ASN][1000 genomes]
rs41616	0.94[ASN][1000 genomes]
rs41617	0.94[ASN][1000 genomes]
rs41622	0.94[ASN][1000 genomes]
rs41623	0.94[ASN][1000 genomes]
rs41626	0.94[ASN][1000 genomes]
rs42333	0.94[ASN][1000 genomes]
rs4730982	0.94[ASN][1000 genomes]
rs55733320	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55749650	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56023697	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56067931	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61481874	0.87[ASN][1000 genomes]
rs6466762	0.81[EUR][1000 genomes]
rs67679138	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73427862	0.87[EUR][1000 genomes]
rs73427871	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73427873	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73427878	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7805733	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7810542	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs886440	0.94[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	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73721472	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:120446000-120476200	Weak transcription	Left Ventricle	heart
4	chr7:120466000-120479600	Weak transcription	Ovary	ovary
5	chr7:120466600-120476200	Weak transcription	Gastric	stomach
6	chr7:120466800-120482400	Weak transcription	Small Intestine	intestine
7	chr7:120467000-120476200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:120468400-120479000	Weak transcription	Fetal Heart	heart
9	chr7:120468600-120477000	Weak transcription	Fetal Stomach	stomach
10	chr7:120468600-120482200	Weak transcription	Pancreas	Pancrea
11	chr7:120468600-120482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:120468600-120483200	Weak transcription	Right Ventricle	heart
13	chr7:120468600-120487600	Weak transcription	Lung	lung
14	chr7:120470000-120476200	Weak transcription	Liver	Liver
15	chr7:120470600-120484600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:120471800-120479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:120472000-120479600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:120472400-120476200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:120472600-120479800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:120473800-120476600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:120473800-120482000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:120474000-120476400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:120474000-120477200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:120474000-120480000	Weak transcription	HSMMtube	muscle
25	chr7:120474000-120482000	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:120474000-120482200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:120474000-120482200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:120474000-120492400	Weak transcription	Fetal Lung	lung
29	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:120474400-120481200	Strong transcription	Fetal Intestine Large	intestine
31	chr7:120474600-120478800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:120475200-120476200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:120475200-120476400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:120475400-120477800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:120475400-120478400	Weak transcription	Adipose Nuclei	Adipose
37	chr7:120475400-120479000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:120475600-120476400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:120475600-120480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:120475600-120480000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:120475800-120476200	Strong transcription	Fetal Kidney	kidney
42	chr7:120475800-120478000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:120475800-120478000	Strong transcription	Fetal Intestine Small	intestine
44	chr7:120476000-120476400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr7:120476000-120476400	ZNF genes & repeats	Aorta	Aorta
46	chr7:120476000-120476600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:120476000-120477000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:120476000-120477000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:120476000-120477000	Strong transcription	HUVEC	blood vessel
50	chr7:120476000-120477800	Enhancers	GM12878-XiMat	blood

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