Variant report

Variant	rs6800330
Chromosome Location	chr3:17672990-17672991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17651090..17652832-chr3:17671455..17674137,2	K562	blood:
2	chr3:17671191..17673216-chr3:17880235..17883064,2	K562	blood:
3	chr3:17672884..17675384-chr3:17683158..17685612,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13315493	1.00[AFR][1000 genomes]
rs13317343	1.00[YRI][hapmap]
rs13433975	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13434330	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9310531	1.00[YRI][hapmap]
rs9755011	1.00[YRI][hapmap]
rs9811209	1.00[AFR][1000 genomes]
rs9824370	1.00[AFR][1000 genomes]
rs9825932	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9827555	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9833117	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9833234	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9837459	1.00[YRI][hapmap]
rs9874918	1.00[AFR][1000 genomes]
rs9877829	1.00[YRI][hapmap]
rs9882280	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1849856	chr3:17646794-17748688	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1828838	chr3:17646794-17757960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17633800-17676600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:17639200-17676800	Weak transcription	Ovary	ovary
3	chr3:17647400-17673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:17647800-17673000	Weak transcription	Psoas Muscle	Psoas
5	chr3:17650800-17681200	Weak transcription	Aorta	Aorta
6	chr3:17651400-17673200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:17656000-17681200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:17657600-17673200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:17657800-17681200	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:17658800-17677200	Weak transcription	Small Intestine	intestine
11	chr3:17659400-17676800	Weak transcription	Right Atrium	heart
12	chr3:17660400-17673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:17660400-17673200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:17660400-17674600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:17660400-17679800	Weak transcription	Adipose Nuclei	Adipose
16	chr3:17660600-17674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:17664000-17674600	Weak transcription	Left Ventricle	heart
18	chr3:17664000-17679000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:17664800-17688600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:17664800-17689000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:17666600-17673200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:17668600-17674000	Weak transcription	Brain Substantia Nigra	brain
23	chr3:17668600-17679400	Weak transcription	GM12878-XiMat	blood
24	chr3:17668600-17679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:17668800-17673200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:17668800-17673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:17668800-17673800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:17668800-17674000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:17668800-17706200	Weak transcription	Primary B cells from cord blood	blood
30	chr3:17669000-17673600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr3:17670400-17673800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:17671200-17673400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:17671400-17673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:17671400-17674000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:17671600-17673000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:17671600-17673200	Weak transcription	NHLF	lung
37	chr3:17671600-17673400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:17671800-17673000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:17671800-17673000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:17671800-17673600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:17672000-17673000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:17672000-17673400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr3:17672200-17673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:17672400-17675000	Enhancers	Dnd41	blood
45	chr3:17672600-17673000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:17672600-17673600	Enhancers	A549	lung
47	chr3:17672800-17673800	Enhancers	Fetal Heart	heart
48	chr3:17672800-17673800	Enhancers	K562	blood

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