Variant report

Variant	rs759459
Chromosome Location	chr2:39695945-39695946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39673263..39677123-chr2:39692250..39696646,6	MCF-7	breast:
2	chr2:39694431..39697205-chr2:39730797..39733915,4	MCF-7	breast:
3	chr2:39694399..39696042-chr2:39720028..39722493,2	K562	blood:
4	chr2:39685470..39688702-chr2:39694435..39696630,3	MCF-7	breast:
5	chr2:39662686..39670121-chr2:39690503..39697386,20	MCF-7	breast:
6	chr2:39694951..39697575-chr2:39697592..39700554,2	K562	blood:

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6742173	0.85[AMR][1000 genomes]
rs72932003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932008	0.86[AFR][1000 genomes]
rs72932025	0.86[AFR][1000 genomes]
rs73924028	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39665200-39696000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:39666200-39696600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:39667200-39696400	Weak transcription	Fetal Heart	heart
4	chr2:39668200-39696800	Weak transcription	Right Ventricle	heart
5	chr2:39675000-39696400	Weak transcription	Fetal Kidney	kidney
6	chr2:39678000-39696800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:39685200-39705000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:39685800-39696000	Weak transcription	Left Ventricle	heart
9	chr2:39688600-39703400	Weak transcription	Liver	Liver
10	chr2:39692600-39696800	Weak transcription	Spleen	Spleen
11	chr2:39693000-39697000	Weak transcription	Lung	lung
12	chr2:39693200-39697200	Enhancers	Stomach Mucosa	stomach
13	chr2:39693800-39698000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:39694400-39696600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:39694400-39696800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:39694400-39696800	Enhancers	HepG2	liver
17	chr2:39694400-39697000	Enhancers	NHDF-Ad	bronchial
18	chr2:39694400-39697400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:39694400-39697400	Enhancers	Placenta	Placenta
20	chr2:39694400-39697600	Enhancers	GM12878-XiMat	blood
21	chr2:39694600-39696200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:39694600-39696400	Enhancers	A549	lung
23	chr2:39694600-39696600	Enhancers	Stomach Smooth Muscle	stomach
24	chr2:39694600-39696800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:39694600-39696800	Enhancers	NHLF	lung
26	chr2:39694600-39696800	Enhancers	Osteobl	bone
27	chr2:39694600-39697000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:39694600-39697200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:39694600-39697200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:39694600-39697200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:39694600-39697400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:39694600-39697400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:39694600-39697400	Enhancers	Fetal Intestine Large	intestine
34	chr2:39694600-39697400	Enhancers	Ovary	ovary
35	chr2:39694600-39697400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr2:39694600-39697400	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:39694600-39697400	Enhancers	Right Atrium	heart
38	chr2:39694600-39697400	Enhancers	HSMM	muscle
39	chr2:39694600-39697600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:39694600-39698000	Enhancers	HUVEC	blood vessel
41	chr2:39694600-39698800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:39694600-39699000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:39694600-39699000	Enhancers	HSMMtube	muscle
44	chr2:39694800-39696200	Enhancers	Aorta	Aorta
45	chr2:39694800-39696600	Enhancers	Adipose Nuclei	Adipose
46	chr2:39694800-39696600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:39694800-39696800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:39694800-39697000	Enhancers	Small Intestine	intestine
49	chr2:39694800-39697200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:39694800-39697200	Enhancers	Brain Angular Gyrus	brain

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