Variant report

Variant	rs17405306
Chromosome Location	chr3:43195266-43195267
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	chr3:43194169..43198887-chr3:43199731..43204970,6	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1125065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11925735	0.96[ASN][1000 genomes]
rs12495981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13327174	0.97[ASN][1000 genomes]
rs17470866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008369	0.86[ASN][1000 genomes]
rs2372336	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57507574	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58512215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73083260	0.90[ASN][1000 genomes]
rs73084637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73084642	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73084648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73084651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73084652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7625507	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9810300	0.91[ASN][1000 genomes]
rs9848658	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9848907	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv3784	chr3:43176397-43221254	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43193000-43198000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:43193400-43195800	Enhancers	Fetal Lung	lung
3	chr3:43193400-43197400	Enhancers	Fetal Muscle Leg	muscle
4	chr3:43193600-43197400	Enhancers	Fetal Brain Male	brain
5	chr3:43193600-43197400	Enhancers	Fetal Stomach	stomach
6	chr3:43193800-43197800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:43194000-43195400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:43194000-43195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:43194000-43196000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:43194200-43195400	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr3:43194200-43195400	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:43194200-43195600	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:43194200-43195600	Enhancers	Adipose Nuclei	Adipose
14	chr3:43194200-43196000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:43194200-43196400	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:43194200-43198200	Weak transcription	Thymus	Thymus
17	chr3:43194400-43195400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:43194400-43195400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr3:43194400-43195400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr3:43194400-43195400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:43194400-43195600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:43194400-43195600	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr3:43194400-43195600	Enhancers	HSMMtube	muscle
24	chr3:43194400-43195800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:43194400-43195800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:43194400-43196000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:43194400-43196000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:43194400-43196000	Enhancers	NHDF-Ad	bronchial
29	chr3:43194400-43196400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:43194400-43197400	Enhancers	Fetal Muscle Trunk	muscle
31	chr3:43194600-43195800	Enhancers	Fetal Kidney	kidney
32	chr3:43194600-43196200	Weak transcription	Right Atrium	heart
33	chr3:43194600-43196400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:43194800-43195400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:43194800-43195400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:43194800-43195600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:43195000-43195400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr3:43195000-43195400	Flanking Active TSS	NHLF	lung
39	chr3:43195000-43196400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:43195200-43195400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:43195200-43195400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:43195200-43195400	Bivalent Enhancer	NH-A	brain
43	chr3:43195200-43195600	Active TSS	Brain Cingulate Gyrus	brain
44	chr3:43195200-43195600	Enhancers	Esophagus	oesophagus
45	chr3:43195200-43195800	Enhancers	Brain Angular Gyrus	brain
46	chr3:43195200-43195800	Enhancers	Colon Smooth Muscle	Colon
47	chr3:43195200-43195800	Enhancers	Fetal Brain Female	brain
48	chr3:43195200-43196000	Enhancers	Fetal Intestine Large	intestine
49	chr3:43195200-43196200	Weak transcription	Fetal Heart	heart
50	chr3:43195200-43196200	Enhancers	Fetal Intestine Small	intestine

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