Variant report

Variant	rs7810542
Chromosome Location	chr7:120474574-120474575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120467426..120469359-chr7:120473701..120476319,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10225453	0.95[CEU][hapmap]
rs10274689	0.85[CEU][hapmap]
rs114420	0.93[ASN][1000 genomes]
rs11976580	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12154976	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs12673417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132731	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17142976	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17142995	0.95[CEU][hapmap]
rs17143001	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs17143009	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs17143013	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107275	0.81[CEU][hapmap]
rs2189974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2525706	0.81[ASN][1000 genomes]
rs2525710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs2721329	0.81[ASN][1000 genomes]
rs2721330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs2721332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[ASN][1000 genomes]
rs2721344	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721347	0.80[CEU][hapmap]
rs2721348	0.93[ASN][1000 genomes]
rs2721360	0.93[ASN][1000 genomes]
rs2721371	0.93[ASN][1000 genomes]
rs3823859	0.95[CEU][hapmap]
rs41613	1.00[ASN][1000 genomes]
rs41616	1.00[ASN][1000 genomes]
rs41617	1.00[ASN][1000 genomes]
rs41622	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs41623	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs41626	1.00[ASN][1000 genomes]
rs41629	0.81[CEU][hapmap]
rs42333	1.00[ASN][1000 genomes]
rs4730982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55733320	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55749650	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56023697	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56067931	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61481874	0.93[ASN][1000 genomes]
rs6466759	0.95[CEU][hapmap]
rs6466760	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs6466761	0.95[CEU][hapmap]
rs6466762	0.95[CEU][hapmap]
rs67679138	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953454	0.85[CEU][hapmap]
rs6959328	0.95[CEU][hapmap]
rs73427862	0.86[EUR][1000 genomes]
rs73427871	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73427873	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73427878	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73721472	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7805733	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.80[TSI][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886440	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs996903	0.85[CEU][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7810542	TSPAN12	cis	parietal	SCAN
rs7810542	TSPAN12	cis	Artery Tibial	GTEx
rs7810542	FLJ21986	cis	multi-tissue	Pritchard

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

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	chr7:120449800-120476000	Weak transcription	HUVEC	blood vessel
5	chr7:120452800-120476000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:120455800-120476000	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:120458400-120475800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:120464000-120476000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:120466000-120479600	Weak transcription	Ovary	ovary
10	chr7:120466600-120476200	Weak transcription	Gastric	stomach
11	chr7:120466800-120482400	Weak transcription	Small Intestine	intestine
12	chr7:120467000-120476200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:120468400-120479000	Weak transcription	Fetal Heart	heart
14	chr7:120468600-120475800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:120468600-120477000	Weak transcription	Fetal Stomach	stomach
16	chr7:120468600-120482200	Weak transcription	Pancreas	Pancrea
17	chr7:120468600-120482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:120468600-120483200	Weak transcription	Right Ventricle	heart
19	chr7:120468600-120487600	Weak transcription	Lung	lung
20	chr7:120468800-120476000	Weak transcription	Aorta	Aorta
21	chr7:120469800-120476000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:120470000-120476200	Weak transcription	Liver	Liver
23	chr7:120470600-120484600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:120471800-120475600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:120471800-120479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:120472000-120479600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:120472200-120474600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:120472200-120475200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:120472400-120475800	Weak transcription	Fetal Kidney	kidney
30	chr7:120472400-120476200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:120472600-120475600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:120472600-120476000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:120472600-120479800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:120473400-120474600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:120473800-120476600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr7:120473800-120482000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:120474000-120474600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:120474000-120474800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:120474000-120475200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:120474000-120476000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:120474000-120476000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:120474000-120476400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:120474000-120477200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:120474000-120480000	Weak transcription	HSMMtube	muscle
45	chr7:120474000-120482000	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:120474000-120482200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:120474000-120482200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:120474000-120492400	Weak transcription	Fetal Lung	lung
49	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:120474400-120481200	Strong transcription	Fetal Intestine Large	intestine

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