Variant report

Variant	rs4727938
Chromosome Location	chr7:121778157-121778158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr7:121777348-121778240	PBDE	blood:	n/a	chr7:121777960-121777969 chr7:121777545-121777555
2	CHD1	chr7:121777560-121778807	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:121775168-121778230	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF7	chr7:121777199-121778182	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121777186..121779429-chr7:121782405..121785136,2	K562	blood:
2	chr7:121777883..121779429-chr7:121782207..121783905,2	K562	blood:

Variant related genes	Relation type
AASS	TF binding region
ENSG00000008311	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10488107	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147489	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1147498	0.92[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs11977512	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12113399	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12530583	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12538079	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17616983	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052096	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs2109333	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268077	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300199	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57341517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59110694	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59224714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59529453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59993706	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60159595	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61624073	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6948443	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952698	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6954944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72499551	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73224332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224339	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226257	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73226277	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73226300	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7784030	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7810763	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv608335	chr7:121749963-121779485	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4727938	TAS2R16	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121744600-121783200	Weak transcription	Lung	lung
2	chr7:121756600-121783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:121756600-121783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:121756800-121783000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:121763600-121781200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:121773800-121779800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:121773800-121781600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:121775600-121783200	Weak transcription	Gastric	stomach
9	chr7:121775800-121782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:121776200-121778200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:121776400-121778200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr7:121776400-121778200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:121776400-121783000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
14	chr7:121776600-121778200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:121776600-121778200	Active TSS	Psoas Muscle	Psoas
16	chr7:121776600-121778200	Active TSS	Stomach Smooth Muscle	stomach
17	chr7:121776600-121778200	Flanking Active TSS	NH-A	brain
18	chr7:121776600-121778400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:121776600-121778400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:121776600-121778400	Flanking Active TSS	HUVEC	blood vessel
21	chr7:121776600-121778600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:121776800-121778200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:121776800-121778200	Flanking Active TSS	Liver	Liver
24	chr7:121776800-121778200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:121776800-121778200	Active TSS	HSMMtube	muscle
26	chr7:121777000-121778200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:121777000-121778200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:121777000-121778200	Active TSS	Aorta	Aorta
29	chr7:121777000-121778200	Active TSS	Right Atrium	heart
30	chr7:121777000-121778200	Active TSS	Stomach Mucosa	stomach
31	chr7:121777000-121778200	Active TSS	HSMM	muscle
32	chr7:121777000-121778200	Active TSS	NHLF	lung
33	chr7:121777000-121778800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:121777200-121778800	Enhancers	Fetal Heart	heart
35	chr7:121777400-121778200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:121777400-121778200	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:121777400-121778200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:121777400-121778200	Enhancers	HepG2	liver
39	chr7:121777400-121778200	Flanking Active TSS	NHEK	skin
40	chr7:121777400-121778600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:121777400-121782200	Weak transcription	Fetal Stomach	stomach
42	chr7:121777600-121778200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:121777600-121778200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:121777600-121778200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:121777600-121778200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr7:121777600-121778200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr7:121777600-121778200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:121777600-121778200	Active TSS	Adipose Nuclei	Adipose
49	chr7:121777600-121778200	Enhancers	Brain Germinal Matrix	brain
50	chr7:121777600-121778200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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