Variant report

Variant	rs805003
Chromosome Location	chr3:120281932-120281933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120277206..120281341-chr3:120281680..120284583,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1259482	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1259484	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1259486	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1259496	0.84[EUR][1000 genomes]
rs1272777	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1370741	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4676799	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs804995	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs804996	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs804997	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs804999	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805000	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805001	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805004	0.80[AMR][1000 genomes]
rs805005	0.92[ASN][1000 genomes]
rs805006	0.92[ASN][1000 genomes]
rs805007	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805008	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805011	0.81[CEU][hapmap]
rs810867	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv508238	chr3:120248574-120329424	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3404272	chr3:120274212-120294960	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120278400-120285400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:120278600-120285400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:120278800-120285400	Weak transcription	Brain Angular Gyrus	brain
4	chr3:120278800-120285600	Weak transcription	Fetal Lung	lung
5	chr3:120278800-120286200	Weak transcription	HSMMtube	muscle
6	chr3:120278800-120286800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:120279000-120285000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:120279000-120285400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:120279600-120282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:120279800-120285600	Weak transcription	Ovary	ovary
11	chr3:120279800-120286200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:120279800-120286200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:120279800-120287000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:120279800-120288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:120280000-120282400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:120280000-120282600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:120280000-120285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:120280000-120285800	Weak transcription	Fetal Stomach	stomach
19	chr3:120280000-120286200	Weak transcription	Liver	Liver
20	chr3:120280000-120286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:120280200-120285400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:120280600-120282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:120280600-120284800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:120280600-120285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:120280600-120285400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:120280600-120285600	Weak transcription	A549	lung
27	chr3:120280600-120285800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:120280600-120285800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:120280800-120285000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:120280800-120285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:120280800-120285000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:120280800-120285200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:120280800-120285400	Weak transcription	Brain Anterior Caudate	brain
34	chr3:120280800-120285400	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:120280800-120285400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:120280800-120285400	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:120280800-120285600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:120280800-120285600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:120280800-120285600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:120280800-120286000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:120280800-120286000	Weak transcription	Osteobl	bone
42	chr3:120280800-120286200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:120280800-120286200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:120280800-120286200	Weak transcription	Hela-S3	cervix
45	chr3:120280800-120286400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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