Variant report

Variant	rs7610748
Chromosome Location	chr3:69379972-69379973
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11128125	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564758	0.92[ASN][1000 genomes]
rs1976064	0.86[ASN][1000 genomes]
rs2003264	0.85[ASN][1000 genomes]
rs2005546	0.85[ASN][1000 genomes]
rs2008239	0.86[ASN][1000 genomes]
rs34397489	0.92[ASN][1000 genomes]
rs6549200	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6549204	0.91[ASN][1000 genomes]
rs6763080	0.92[ASN][1000 genomes]
rs6774290	0.92[ASN][1000 genomes]
rs6781841	0.91[ASN][1000 genomes]
rs6802833	0.92[ASN][1000 genomes]
rs6808107	0.86[ASN][1000 genomes]
rs7615137	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7640281	0.95[ASN][1000 genomes]
rs9820308	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9820322	0.98[ASN][1000 genomes]
rs9867072	0.90[ASN][1000 genomes]
rs9869925	0.91[ASN][1000 genomes]
rs9876410	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9882259	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69360600-69382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69370200-69384000	Weak transcription	Left Ventricle	heart
3	chr3:69371800-69380000	Weak transcription	Fetal Heart	heart
4	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:69372400-69380000	Weak transcription	NHEK	skin
6	chr3:69373800-69380400	Weak transcription	Placenta	Placenta
7	chr3:69374600-69380400	Weak transcription	Lung	lung
8	chr3:69374600-69383200	Weak transcription	Right Atrium	heart
9	chr3:69374800-69388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr3:69375000-69380000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:69375000-69384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:69376000-69380000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:69376400-69388600	Weak transcription	Aorta	Aorta
14	chr3:69376600-69380000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:69376600-69380800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:69376600-69383200	Weak transcription	Adipose Nuclei	Adipose
17	chr3:69376800-69388400	Weak transcription	HSMMtube	muscle
18	chr3:69377000-69381200	Enhancers	Primary hematopoietic stem cells	blood
19	chr3:69377400-69383800	Weak transcription	Brain Angular Gyrus	brain
20	chr3:69377600-69380000	Weak transcription	Fetal Lung	lung
21	chr3:69377800-69381400	Weak transcription	Fetal Brain Female	brain
22	chr3:69377800-69382400	Weak transcription	Brain Anterior Caudate	brain
23	chr3:69377800-69382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:69378000-69380000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:69378200-69380000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:69378200-69381400	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:69378200-69383800	Weak transcription	Right Ventricle	heart
28	chr3:69378400-69380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:69378400-69380000	Weak transcription	Fetal Thymus	thymus
30	chr3:69378400-69380200	Weak transcription	Brain Substantia Nigra	brain
31	chr3:69378400-69380400	Enhancers	Dnd41	blood
32	chr3:69378400-69381600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:69378400-69390600	Weak transcription	Thymus	Thymus
34	chr3:69378400-69400600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:69378800-69381400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:69379000-69381400	Enhancers	HUVEC	blood vessel
37	chr3:69379200-69380000	Weak transcription	HSMM	muscle
38	chr3:69379400-69380400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:69379800-69380600	Enhancers	Spleen	Spleen
40	chr3:69379800-69380800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr3:69379800-69380800	Enhancers	Monocytes-CD14+_RO01746	blood

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