Variant report

Variant	rs2052124
Chromosome Location	chr7:69242621-69242622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1000873	0.85[EUR][1000 genomes]
rs1000874	0.87[EUR][1000 genomes]
rs10085600	0.84[EUR][1000 genomes]
rs10216097	0.90[EUR][1000 genomes]
rs10216186	0.81[EUR][1000 genomes]
rs10229336	0.81[EUR][1000 genomes]
rs10229578	0.87[EUR][1000 genomes]
rs10229588	0.84[EUR][1000 genomes]
rs10230356	0.84[EUR][1000 genomes]
rs10230750	0.84[EUR][1000 genomes]
rs10233869	0.87[EUR][1000 genomes]
rs10234831	0.96[EUR][1000 genomes]
rs10235098	0.81[EUR][1000 genomes]
rs10236103	0.84[EUR][1000 genomes]
rs10238307	0.87[EUR][1000 genomes]
rs10239569	0.90[EUR][1000 genomes]
rs10240462	0.84[EUR][1000 genomes]
rs10242206	0.84[EUR][1000 genomes]
rs10243408	0.87[EUR][1000 genomes]
rs10244001	0.84[EUR][1000 genomes]
rs10244128	0.84[EUR][1000 genomes]
rs10244247	0.84[EUR][1000 genomes]
rs10244885	0.80[EUR][1000 genomes]
rs10245690	0.90[EUR][1000 genomes]
rs10245749	0.81[EUR][1000 genomes]
rs10247386	0.84[EUR][1000 genomes]
rs10248237	0.87[EUR][1000 genomes]
rs10254086	0.84[EUR][1000 genomes]
rs10255563	0.84[EUR][1000 genomes]
rs10256512	0.87[EUR][1000 genomes]
rs10256943	0.87[EUR][1000 genomes]
rs10257587	0.87[EUR][1000 genomes]
rs10258846	0.81[EUR][1000 genomes]
rs10261380	0.87[EUR][1000 genomes]
rs10263467	0.84[EUR][1000 genomes]
rs10268729	0.84[EUR][1000 genomes]
rs10269267	0.84[EUR][1000 genomes]
rs10272781	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10274099	0.84[EUR][1000 genomes]
rs10274419	0.90[EUR][1000 genomes]
rs10275112	0.80[EUR][1000 genomes]
rs10275721	0.90[EUR][1000 genomes]
rs10278001	0.81[EUR][1000 genomes]
rs10278978	0.90[EUR][1000 genomes]
rs10279669	0.90[EUR][1000 genomes]
rs10279708	0.84[EUR][1000 genomes]
rs10452705	0.84[EUR][1000 genomes]
rs10452739	0.81[EUR][1000 genomes]
rs10487943	0.90[EUR][1000 genomes]
rs11762049	0.87[EUR][1000 genomes]
rs11762487	0.81[EUR][1000 genomes]
rs11764277	0.84[EUR][1000 genomes]
rs11764717	0.84[EUR][1000 genomes]
rs11769033	0.87[EUR][1000 genomes]
rs11769738	0.84[EUR][1000 genomes]
rs11771751	0.87[EUR][1000 genomes]
rs11771899	0.90[EUR][1000 genomes]
rs11772602	0.84[EUR][1000 genomes]
rs11975481	0.84[EUR][1000 genomes]
rs11975506	0.84[EUR][1000 genomes]
rs11979745	0.84[EUR][1000 genomes]
rs12333653	0.81[EUR][1000 genomes]
rs17140755	0.87[EUR][1000 genomes]
rs17140759	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17140783	0.87[EUR][1000 genomes]
rs17140817	0.87[EUR][1000 genomes]
rs17140884	0.84[EUR][1000 genomes]
rs17140938	0.90[EUR][1000 genomes]
rs17141032	0.81[EUR][1000 genomes]
rs17350805	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17353920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361825	0.87[EUR][1000 genomes]
rs17457910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17458187	0.85[EUR][1000 genomes]
rs17458713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068718	0.87[EUR][1000 genomes]
rs28393394	0.81[EUR][1000 genomes]
rs28493290	0.87[EUR][1000 genomes]
rs28496072	0.81[EUR][1000 genomes]
rs28502437	0.81[EUR][1000 genomes]
rs28577243	0.84[EUR][1000 genomes]
rs2865804	0.87[EUR][1000 genomes]
rs28812289	0.90[EUR][1000 genomes]
rs28864527	0.81[EUR][1000 genomes]
rs34080361	0.87[EUR][1000 genomes]
rs3800979	0.87[EUR][1000 genomes]
rs41379648	0.84[EUR][1000 genomes]
rs4305786	0.84[EUR][1000 genomes]
rs55654955	0.84[EUR][1000 genomes]
rs55756263	0.84[EUR][1000 genomes]
rs55880824	0.84[EUR][1000 genomes]
rs56800568	0.84[EUR][1000 genomes]
rs57493471	0.84[EUR][1000 genomes]
rs58626042	0.84[EUR][1000 genomes]
rs58666988	0.87[EUR][1000 genomes]
rs58863846	0.84[EUR][1000 genomes]
rs61424317	0.84[EUR][1000 genomes]
rs6460525	0.84[EUR][1000 genomes]
rs6945524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947326	0.81[EUR][1000 genomes]
rs6950638	0.87[EUR][1000 genomes]
rs6951770	0.84[EUR][1000 genomes]
rs6958450	0.87[EUR][1000 genomes]
rs6958714	0.81[EUR][1000 genomes]
rs6962237	0.83[EUR][1000 genomes]
rs6962338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967788	0.84[EUR][1000 genomes]
rs6968426	0.81[EUR][1000 genomes]
rs6977472	0.84[EUR][1000 genomes]
rs6978818	0.81[EUR][1000 genomes]
rs717266	0.87[EUR][1000 genomes]
rs719294	0.87[EUR][1000 genomes]
rs73154605	0.90[EUR][1000 genomes]
rs73164783	0.85[EUR][1000 genomes]
rs73164795	0.87[EUR][1000 genomes]
rs73166559	0.84[EUR][1000 genomes]
rs73167506	0.87[EUR][1000 genomes]
rs73168739	0.87[EUR][1000 genomes]
rs73168740	0.90[EUR][1000 genomes]
rs73168747	0.81[EUR][1000 genomes]
rs73168758	0.81[EUR][1000 genomes]
rs73168761	0.85[EUR][1000 genomes]
rs73170834	0.84[EUR][1000 genomes]
rs73170852	0.87[EUR][1000 genomes]
rs73170857	0.87[EUR][1000 genomes]
rs73170864	0.87[EUR][1000 genomes]
rs73172903	0.84[EUR][1000 genomes]
rs740946	0.87[EUR][1000 genomes]
rs7777269	0.87[EUR][1000 genomes]
rs7777621	0.87[EUR][1000 genomes]
rs7780835	0.90[EUR][1000 genomes]
rs7781664	0.81[EUR][1000 genomes]
rs7784950	0.90[EUR][1000 genomes]
rs7797662	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801209	0.84[EUR][1000 genomes]
rs7810982	0.84[EUR][1000 genomes]
rs917718	0.81[EUR][1000 genomes]
rs917725	0.80[EUR][1000 genomes]
rs9690738	0.81[EUR][1000 genomes]
rs9690769	0.81[EUR][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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69234800-69245800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:69236200-69242800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69236200-69243400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:69237400-69246400	Weak transcription	Fetal Lung	lung
5	chr7:69237800-69246400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:69238600-69245800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:69238800-69245400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:69238800-69245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:69238800-69246200	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:69239000-69245400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:69239000-69245600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:69239000-69245800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:69239200-69245000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:69239200-69245600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:69240200-69242800	Enhancers	Placenta	Placenta
16	chr7:69240600-69245400	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:69240600-69245400	Weak transcription	HSMM	muscle
18	chr7:69240600-69246000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:69240800-69243400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:69240800-69245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:69240800-69245400	Weak transcription	HSMMtube	muscle
22	chr7:69240800-69245400	Weak transcription	NHEK	skin
23	chr7:69240800-69245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:69240800-69245600	Weak transcription	Psoas Muscle	Psoas
25	chr7:69240800-69246200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:69240800-69247000	Weak transcription	Left Ventricle	heart
27	chr7:69241000-69245400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:69241000-69245600	Weak transcription	A549	lung
29	chr7:69241000-69245600	Weak transcription	NH-A	brain
30	chr7:69241000-69246200	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:69241200-69244800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:69241200-69245200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:69241200-69245400	Weak transcription	Right Atrium	heart
34	chr7:69241200-69245800	Weak transcription	NHDF-Ad	bronchial
35	chr7:69241200-69246400	Weak transcription	Osteobl	bone
36	chr7:69241400-69245400	Weak transcription	Fetal Heart	heart
37	chr7:69242000-69243400	Enhancers	GM12878-XiMat	blood
38	chr7:69242000-69244000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:69242000-69245000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:69242200-69245800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:69242400-69242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:69242400-69243000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:69242400-69245200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:69242400-69245600	Weak transcription	Ovary	ovary
45	chr7:69242400-69245800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:69242400-69246000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:69242400-69246000	Weak transcription	Adipose Nuclei	Adipose
48	chr7:69242600-69242800	Enhancers	Fetal Stomach	stomach

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