Variant report

Variant	rs4723793
Chromosome Location	chr7:38845861-38845862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10232480	0.81[EUR][1000 genomes]
rs10259755	0.81[AFR][1000 genomes]
rs12532461	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1473137	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1859937	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074656	0.85[CEU][hapmap];0.91[CHB][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240350	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.83[EUR][1000 genomes]
rs2240355	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2240555	0.86[JPT][hapmap];0.83[YRI][hapmap]
rs2286081	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[EUR][1000 genomes]
rs2286085	0.81[EUR][1000 genomes]
rs2286090	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2286092	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2286095	0.85[CEU][hapmap];0.89[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2286097	0.85[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2286099	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2286100	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2286102	0.82[EUR][1000 genomes]
rs2392609	0.86[JPT][hapmap];0.87[YRI][hapmap]
rs2893567	1.00[ASW][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs3779126	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3801135	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3801142	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3801144	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4430003	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4720298	0.82[EUR][1000 genomes]
rs4720299	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4723783	0.83[EUR][1000 genomes]
rs6462862	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.85[LWK][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6961672	0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs7785161	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7788664	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7803397	1.00[ASW][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.83[MEX][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs886646	0.84[CHB][hapmap]
rs9638944	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][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	nsv1032637	chr7:38832627-38902723	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv887966	chr7:38835035-38933942	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4723793	TBX20	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38793400-38861200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:38803200-38846000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:38813800-38857400	Weak transcription	HSMM	muscle
4	chr7:38822400-38855200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:38829400-38846600	Weak transcription	Brain Anterior Caudate	brain
6	chr7:38829400-38846600	Weak transcription	Brain Substantia Nigra	brain
7	chr7:38829400-38846800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:38829400-38854600	Weak transcription	Left Ventricle	heart
9	chr7:38829400-38855200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:38829400-38855600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:38829400-38856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:38829400-38864400	Weak transcription	Thymus	Thymus
13	chr7:38829400-38864600	Weak transcription	NHLF	lung
14	chr7:38831000-38871200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:38831800-38846400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:38831800-38854800	Weak transcription	Fetal Stomach	stomach
17	chr7:38831800-38856800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:38831800-38856800	Weak transcription	Pancreas	Pancrea
19	chr7:38831800-38857000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:38831800-38867800	Weak transcription	Fetal Thymus	thymus
21	chr7:38832000-38846400	Weak transcription	K562	blood
22	chr7:38832000-38855600	Weak transcription	Dnd41	blood
23	chr7:38832000-38857400	Weak transcription	Lung	lung
24	chr7:38832400-38855200	Weak transcription	Fetal Intestine Small	intestine
25	chr7:38832800-38857000	Weak transcription	Esophagus	oesophagus
26	chr7:38833400-38846800	Weak transcription	Brain Angular Gyrus	brain
27	chr7:38833400-38857000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:38833400-38859400	Weak transcription	Spleen	Spleen
29	chr7:38833600-38857000	Weak transcription	Aorta	Aorta
30	chr7:38833600-38857200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:38834400-38847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:38834400-38863400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:38834600-38853600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:38835200-38855200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:38835200-38855600	Weak transcription	Fetal Intestine Large	intestine
36	chr7:38835200-38857000	Weak transcription	Fetal Lung	lung
37	chr7:38835200-38865200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:38835400-38846600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:38835400-38854000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:38835400-38855200	Weak transcription	Liver	Liver
41	chr7:38835400-38857000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:38835600-38856400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:38835600-38857400	Weak transcription	Ovary	ovary
44	chr7:38835600-38857600	Weak transcription	Adipose Nuclei	Adipose
45	chr7:38835600-38862200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:38835600-38900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:38835800-38855600	Weak transcription	HSMMtube	muscle
48	chr7:38835800-38856200	Weak transcription	GM12878-XiMat	blood
49	chr7:38835800-38856800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:38835800-38858600	Weak transcription	Primary T cells fromperipheralblood	blood

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