Variant report

Variant	rs56290213
Chromosome Location	chr7:16103111-16103112
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16101293..16103976-chr7:16112163..16114440,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1528136	0.86[ASN][1000 genomes]
rs1528147	0.98[ASN][1000 genomes]
rs1528149	1.00[ASN][1000 genomes]
rs17285792	0.93[ASN][1000 genomes]
rs17286418	0.86[ASN][1000 genomes]
rs17357253	0.95[ASN][1000 genomes]
rs17357511	0.98[ASN][1000 genomes]
rs17358277	0.86[ASN][1000 genomes]
rs17359183	0.86[ASN][1000 genomes]
rs17359294	0.86[ASN][1000 genomes]
rs2389581	0.98[ASN][1000 genomes]
rs3857708	0.82[ASN][1000 genomes]
rs3857709	0.82[ASN][1000 genomes]
rs4621696	0.82[ASN][1000 genomes]
rs60333130	0.91[ASN][1000 genomes]
rs62439474	0.86[ASN][1000 genomes]
rs62440849	0.98[ASN][1000 genomes]
rs62440852	0.98[ASN][1000 genomes]
rs62440855	0.98[ASN][1000 genomes]
rs62442360	0.86[ASN][1000 genomes]
rs6952865	0.98[ASN][1000 genomes]
rs73056339	0.86[ASN][1000 genomes]
rs740823	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv517991	chr7:16042596-16104327	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16096000-16106600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:16099200-16106600	Enhancers	Fetal Lung	lung
3	chr7:16099600-16103600	Weak transcription	Left Ventricle	heart
4	chr7:16100000-16104200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:16100200-16103600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:16100200-16103800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:16100800-16103800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:16101000-16106200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:16101200-16103800	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:16101400-16103600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:16101600-16103400	Enhancers	Primary T cells from cord blood	blood
12	chr7:16101600-16103400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:16102000-16103400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:16102000-16103800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:16102000-16113200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:16102200-16103200	Weak transcription	NHLF	lung
17	chr7:16102200-16103400	Flanking Active TSS	HUVEC	blood vessel
18	chr7:16102200-16104200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr7:16102200-16107000	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:16102400-16103400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:16102400-16106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:16102800-16103200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:16102800-16103800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:16102800-16103800	Enhancers	Fetal Kidney	kidney
25	chr7:16102800-16106200	Weak transcription	Liver	Liver
26	chr7:16103000-16103200	Bivalent Enhancer	NH-A	brain
27	chr7:16103000-16103400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:16103000-16103600	Enhancers	Right Atrium	heart
29	chr7:16103000-16103600	Enhancers	Small Intestine	intestine
30	chr7:16103000-16103800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:16103000-16103800	Enhancers	Fetal Stomach	stomach
32	chr7:16103000-16103800	Enhancers	Ovary	ovary
33	chr7:16103000-16103800	Flanking Active TSS	Osteobl	bone
34	chr7:16103000-16104000	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:16103000-16104000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr7:16103000-16104200	Flanking Active TSS	Adipose Nuclei	Adipose

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