Variant report

Variant	rs279704
Chromosome Location	chr7:121779485-121779486
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121779239..121781681-chr7:121799360..121802322,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1147487	0.84[GIH][hapmap]
rs1147492	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1147493	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1147494	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1206351	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1206352	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206353	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206354	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206356	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206357	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1206358	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206359	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206360	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206363	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1206364	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206365	0.83[CHB][hapmap]
rs1206367	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206368	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206369	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206373	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206374	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206376	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206379	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206380	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206381	0.84[GIH][hapmap]
rs1206382	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12217	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1725066	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1860507	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2533862	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279663	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs279664	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs279666	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs279667	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs279668	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs279669	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs279671	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs279674	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279675	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279677	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs279681	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs279698	0.81[TSI][hapmap]
rs279699	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs279706	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs758692	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs969549	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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

No data

Chromatin state (count:82 , 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	chr7:121776400-121783000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
11	chr7:121777400-121782200	Weak transcription	Fetal Stomach	stomach
12	chr7:121777600-121779600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:121777600-121782200	Weak transcription	Pancreas	Pancrea
14	chr7:121777600-121782800	Weak transcription	Fetal Brain Female	brain
15	chr7:121777600-121783000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:121777600-121783200	Weak transcription	Esophagus	oesophagus
17	chr7:121777800-121779600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr7:121777800-121781000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:121777800-121781000	Weak transcription	Right Ventricle	heart
20	chr7:121777800-121783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:121777800-121783200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:121778000-121781200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:121778000-121782000	Weak transcription	Left Ventricle	heart
24	chr7:121778000-121782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:121778000-121782800	Weak transcription	HMEC	breast
26	chr7:121778000-121783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:121778000-121783000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:121778000-121783000	Weak transcription	Fetal Brain Male	brain
29	chr7:121778000-121783000	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:121778000-121783000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:121778200-121779600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:121778200-121779800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:121778200-121779800	Weak transcription	Ovary	ovary
34	chr7:121778200-121780000	Enhancers	Liver	Liver
35	chr7:121778200-121781000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:121778200-121781000	Weak transcription	NHLF	lung
37	chr7:121778200-121781200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:121778200-121781200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:121778200-121781200	Weak transcription	Stomach Mucosa	stomach
40	chr7:121778200-121781400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:121778200-121781400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:121778200-121781400	Weak transcription	Fetal Lung	lung
43	chr7:121778200-121782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:121778200-121782000	Weak transcription	Brain Germinal Matrix	brain
45	chr7:121778200-121782200	Weak transcription	Aorta	Aorta
46	chr7:121778200-121782400	Weak transcription	HepG2	liver
47	chr7:121778200-121782800	Weak transcription	NH-A	brain
48	chr7:121778200-121783000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:121778200-121783000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:121778200-121783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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