Variant report

Variant	rs12635365
Chromosome Location	chr3:69390871-69390872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13320477	0.89[ASN][1000 genomes]
rs17350402	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17416638	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2314987	0.86[ASN][1000 genomes]
rs2872808	0.86[ASN][1000 genomes]
rs35298402	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4855391	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56052332	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56138041	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58156018	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59605214	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs881031	0.85[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:69378400-69400600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:69380600-69393200	Weak transcription	HSMM	muscle
4	chr3:69386000-69400200	Weak transcription	NHEK	skin
5	chr3:69387800-69393600	Enhancers	Brain Hippocampus Middle	brain
6	chr3:69388200-69391800	Enhancers	Brain Substantia Nigra	brain
7	chr3:69388600-69391000	Enhancers	Spleen	Spleen
8	chr3:69389000-69391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:69389000-69400800	Weak transcription	Aorta	Aorta
10	chr3:69389200-69392200	Weak transcription	Left Ventricle	heart
11	chr3:69389400-69391200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:69389400-69400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:69389600-69391400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:69389800-69391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:69389800-69391800	Enhancers	Dnd41	blood
16	chr3:69389800-69392200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:69389800-69400200	Weak transcription	HUVEC	blood vessel
18	chr3:69390400-69391000	Enhancers	Right Atrium	heart
19	chr3:69390400-69391400	Enhancers	Brain Angular Gyrus	brain
20	chr3:69390400-69391600	Enhancers	Brain Anterior Caudate	brain
21	chr3:69390400-69391800	Enhancers	Brain Cingulate Gyrus	brain
22	chr3:69390600-69391000	Enhancers	Fetal Intestine Large	intestine
23	chr3:69390600-69391000	Genic enhancers	Lung	lung
24	chr3:69390600-69391000	Enhancers	Psoas Muscle	Psoas
25	chr3:69390600-69391200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:69390600-69391200	Enhancers	Thymus	Thymus
27	chr3:69390600-69391400	Enhancers	Fetal Stomach	stomach
28	chr3:69390600-69391600	Enhancers	Fetal Lung	lung
29	chr3:69390600-69392000	Enhancers	Fetal Heart	heart
30	chr3:69390800-69391200	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:69390800-69391600	Enhancers	Brain Inferior Temporal Lobe	brain

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