Variant report

Variant	rs4727766
Chromosome Location	chr7:111958382-111958383
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	chr7:111957865..111959684-chr7:111963076..111965574,2	K562	blood:
2	chr7:111957865..111960569-chr7:111963076..111967286,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10233673	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10240912	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10251236	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10257677	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10266365	0.87[JPT][hapmap]
rs10272976	0.88[CEU][hapmap];0.88[GIH][hapmap];0.90[MKK][hapmap]
rs10435366	0.88[JPT][hapmap]
rs11773464	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12113149	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12113634	0.81[JPT][hapmap]
rs12154685	0.94[JPT][hapmap]
rs12537746	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12705816	0.81[JPT][hapmap]
rs12705817	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[ASN][1000 genomes]
rs13236012	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2708600	0.82[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs2708601	0.86[JPT][hapmap]
rs3948719	0.88[CEU][hapmap];0.88[GIH][hapmap]
rs4464880	0.87[JPT][hapmap]
rs4730519	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4730524	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6944662	0.82[EUR][1000 genomes]
rs6949809	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6966390	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs6966694	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6974364	0.87[JPT][hapmap]
rs6976889	1.00[CEU][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6978767	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6979385	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs736771	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs757195	0.86[JPT][hapmap]
rs757196	0.87[JPT][hapmap]
rs7789649	0.82[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs7802828	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs886353	0.82[CEU][hapmap]
rs960348	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[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	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
4	esv2764032	chr7:111938590-111963829	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4727766	TFEC	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
3	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
5	chr7:111923600-111964800	Weak transcription	Gastric	stomach
6	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
8	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
9	chr7:111926800-111964800	Weak transcription	Lung	lung
10	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
11	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
12	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:111928800-111961000	Weak transcription	Placenta	Placenta
14	chr7:111929000-111958800	Weak transcription	Fetal Thymus	thymus
15	chr7:111929000-111959000	Weak transcription	Fetal Intestine Large	intestine
16	chr7:111930200-111961800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:111930600-111959000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:111930800-111965200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
20	chr7:111933000-111958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:111934000-111965200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:111936800-111959800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:111938000-111965000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:111938400-111958400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:111939200-111961800	Weak transcription	Psoas Muscle	Psoas
26	chr7:111939200-111964600	Weak transcription	Left Ventricle	heart
27	chr7:111940000-111964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:111941000-111963200	Weak transcription	Fetal Brain Male	brain
29	chr7:111941600-111960400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:111943000-111960400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:111943000-111960800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:111945200-111965000	Weak transcription	Pancreas	Pancrea
35	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
36	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
37	chr7:111947800-111960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:111949200-111959400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:111950000-111958600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:111950000-111958800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:111950000-111959200	Weak transcription	HSMM	muscle
42	chr7:111950000-111961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:111950000-111961800	Weak transcription	Ovary	ovary
44	chr7:111950000-111961800	Weak transcription	HepG2	liver
45	chr7:111950000-111962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:111950200-111958800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:111950200-111958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:111950200-111958800	Weak transcription	Adipose Nuclei	Adipose
49	chr7:111950200-111958800	Weak transcription	Fetal Lung	lung
50	chr7:111950200-111958800	Weak transcription	Stomach Smooth Muscle	stomach

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