Variant report

Variant	rs56016333
Chromosome Location	chr7:104596248-104596249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104590688..104592595-chr7:104595872..104597993,2	K562	blood:
2	chr7:104595365..104601201-chr7:104602410..104607281,8	K562	blood:
3	chr7:104596015..104597535-chr7:104653650..104655397,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239569	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1011468	0.93[ASN][1000 genomes]
rs10247691	0.93[ASN][1000 genomes]
rs10252714	0.80[ASN][1000 genomes]
rs10263499	0.86[ASN][1000 genomes]
rs1029596	0.86[ASN][1000 genomes]
rs11978288	0.86[ASN][1000 genomes]
rs11981882	1.00[ASN][1000 genomes]
rs12534212	0.86[ASN][1000 genomes]
rs2097942	0.86[ASN][1000 genomes]
rs2106500	0.90[ASN][1000 genomes]
rs2299298	0.86[ASN][1000 genomes]
rs4602821	1.00[ASN][1000 genomes]
rs4727618	0.86[ASN][1000 genomes]
rs6466035	0.86[ASN][1000 genomes]
rs66905828	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs67665940	0.81[ASN][1000 genomes]
rs6947388	0.86[ASN][1000 genomes]
rs6950894	0.86[ASN][1000 genomes]
rs6963395	0.86[ASN][1000 genomes]
rs6976394	0.86[ASN][1000 genomes]
rs6980244	0.86[ASN][1000 genomes]
rs7784126	0.86[ASN][1000 genomes]
rs888086	0.86[ASN][1000 genomes]
rs9918494	1.00[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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 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	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104586800-104596800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:104587000-104597000	Weak transcription	Fetal Stomach	stomach
4	chr7:104587000-104597600	Weak transcription	Right Atrium	heart
5	chr7:104587200-104596800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:104587200-104597000	Weak transcription	Fetal Thymus	thymus
7	chr7:104587200-104599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:104587200-104600800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:104587400-104597000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:104588000-104597000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:104588800-104596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:104591400-104596800	Weak transcription	Small Intestine	intestine
14	chr7:104591600-104604600	Weak transcription	Fetal Kidney	kidney
15	chr7:104592400-104597200	Weak transcription	NH-A	brain
16	chr7:104592600-104596800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:104592600-104596800	Weak transcription	Osteobl	bone
18	chr7:104592800-104596600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:104592800-104597200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:104593600-104597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:104594200-104597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:104594800-104598400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:104595000-104596600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:104595600-104596400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr7:104595600-104597000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:104595600-104599400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:104595600-104599400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:104595600-104599400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:104595600-104599400	Enhancers	Stomach Mucosa	stomach
30	chr7:104595600-104599400	Enhancers	NHDF-Ad	bronchial
31	chr7:104595600-104605600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr7:104595800-104596400	Enhancers	Primary B cells from cord blood	blood
33	chr7:104595800-104596600	Enhancers	Colonic Mucosa	Colon
34	chr7:104595800-104596800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:104595800-104598200	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr7:104595800-104598200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:104595800-104599400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:104595800-104599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:104595800-104601200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr7:104596000-104596400	Weak transcription	NHLF	lung
41	chr7:104596000-104596800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:104596000-104597000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:104596000-104597800	Weak transcription	K562	blood
44	chr7:104596200-104597000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:104596200-104598000	Weak transcription	Lung	lung
46	chr7:104596200-104599400	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:104596200-104599400	Enhancers	Colon Smooth Muscle	Colon
48	chr7:104596200-104601200	Weak transcription	Adipose Nuclei	Adipose

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