Variant report

Variant	rs62482493
Chromosome Location	chr7:106951579-106951580
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	chr7:106951124..106952783-chr7:106959596..106961656,2	MCF-7	breast:
2	chr7:106944112..106947438-chr7:106948348..106951754,4	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12112877	0.97[ASN][1000 genomes]
rs12670688	0.82[ASN][1000 genomes]
rs12672451	0.80[ASN][1000 genomes]
rs13230144	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17153981	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17154040	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1858888	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2107317	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237658	0.81[ASN][1000 genomes]
rs2237659	0.83[ASN][1000 genomes]
rs2237660	0.83[ASN][1000 genomes]
rs2237661	0.83[ASN][1000 genomes]
rs2237665	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237668	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2283038	0.82[ASN][1000 genomes]
rs2301801	0.87[ASN][1000 genomes]
rs2395868	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2395869	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34021916	0.81[ASN][1000 genomes]
rs3801964	0.81[ASN][1000 genomes]
rs3801966	0.82[ASN][1000 genomes]
rs4730235	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730237	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4730238	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58391518	0.85[ASN][1000 genomes]
rs62482495	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62482499	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62482502	0.91[ASN][1000 genomes]
rs62482503	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62482507	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62483629	0.85[ASN][1000 genomes]
rs62483633	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62483634	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62483640	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62483641	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6949634	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7777950	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7785892	0.92[ASN][1000 genomes]
rs7788271	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7788330	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7790080	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7803151	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9791733	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs982447	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1016691	chr7:106880953-106960515	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1015615	chr7:106888529-106962332	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1024903	chr7:106897237-106965091	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1034707	chr7:106897237-106966215	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv1797664	chr7:106930295-106964433	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:106904800-106959800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:106911000-106964200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:106915200-106953400	Weak transcription	Left Ventricle	heart
7	chr7:106918600-106963800	Weak transcription	HSMM	muscle
8	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:106925600-106959800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:106928000-106958800	Weak transcription	HepG2	liver
12	chr7:106928000-106972600	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:106931400-106962800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:106932200-106967400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:106932400-106955600	Weak transcription	Stomach Mucosa	stomach
16	chr7:106932400-106956200	Weak transcription	HMEC	breast
17	chr7:106932600-106953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:106934200-106967400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:106934200-106968600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:106934200-106971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:106934200-106973000	Weak transcription	Adipose Nuclei	Adipose
22	chr7:106934400-106967200	Weak transcription	Fetal Stomach	stomach
23	chr7:106934400-106971400	Weak transcription	Ovary	ovary
24	chr7:106934800-106962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:106935200-106962400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:106935400-106964000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:106937400-106952800	Weak transcription	NH-A	brain
28	chr7:106938400-106960000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:106939000-106962400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:106943000-106973000	Weak transcription	Thymus	Thymus
31	chr7:106945600-106953000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:106945800-106960200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:106945800-106973000	Weak transcription	Right Ventricle	heart
34	chr7:106946200-106967200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:106946400-106953000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:106946400-106953400	Weak transcription	Primary B cells from cord blood	blood
38	chr7:106946400-106960200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:106946400-106960800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:106946400-106962400	Weak transcription	Liver	Liver
41	chr7:106946400-106962600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:106946400-106968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:106946400-106968000	Weak transcription	NHEK	skin
44	chr7:106946400-106968200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:106946400-106971400	Weak transcription	Esophagus	oesophagus
46	chr7:106946400-106973000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:106946400-106978400	Weak transcription	Fetal Intestine Large	intestine
48	chr7:106946400-106983600	Weak transcription	Aorta	Aorta
49	chr7:106946400-106983600	Weak transcription	Fetal Intestine Small	intestine
50	chr7:106946400-106999400	Weak transcription	Pancreas	Pancrea

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