Variant report

Variant	rs73224339
Chromosome Location	chr7:121779822-121779823
allele	C/T
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: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10488107	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147489	0.83[ASN][1000 genomes]
rs11977512	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12113399	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12530583	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12538079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17616983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109333	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268077	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300199	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4727938	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59993706	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60159595	0.96[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	0.98[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224336	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:5 , 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	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
5	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	chr7:121773800-121781600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:121775600-121783200	Weak transcription	Gastric	stomach
8	chr7:121775800-121782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:121776400-121783000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
10	chr7:121777400-121782200	Weak transcription	Fetal Stomach	stomach
11	chr7:121777600-121782200	Weak transcription	Pancreas	Pancrea
12	chr7:121777600-121782800	Weak transcription	Fetal Brain Female	brain
13	chr7:121777600-121783000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:121777600-121783200	Weak transcription	Esophagus	oesophagus
15	chr7:121777800-121781000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:121777800-121781000	Weak transcription	Right Ventricle	heart
17	chr7:121777800-121783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:121777800-121783200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:121778000-121781200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:121778000-121782000	Weak transcription	Left Ventricle	heart
21	chr7:121778000-121782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:121778000-121782800	Weak transcription	HMEC	breast
23	chr7:121778000-121783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:121778000-121783000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:121778000-121783000	Weak transcription	Fetal Brain Male	brain
26	chr7:121778000-121783000	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:121778000-121783000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:121778200-121780000	Enhancers	Liver	Liver
29	chr7:121778200-121781000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:121778200-121781000	Weak transcription	NHLF	lung
31	chr7:121778200-121781200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:121778200-121781200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:121778200-121781200	Weak transcription	Stomach Mucosa	stomach
34	chr7:121778200-121781400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:121778200-121781400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:121778200-121781400	Weak transcription	Fetal Lung	lung
37	chr7:121778200-121782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:121778200-121782000	Weak transcription	Brain Germinal Matrix	brain
39	chr7:121778200-121782200	Weak transcription	Aorta	Aorta
40	chr7:121778200-121782400	Weak transcription	HepG2	liver
41	chr7:121778200-121782800	Weak transcription	NH-A	brain
42	chr7:121778200-121783000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:121778200-121783000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:121778200-121783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:121778200-121783000	Weak transcription	Adipose Nuclei	Adipose
46	chr7:121778200-121783000	Weak transcription	Brain Anterior Caudate	brain
47	chr7:121778200-121783000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:121778200-121783000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:121778200-121783000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:121778200-121783000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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