Variant report

Variant	rs73318734
Chromosome Location	chr10:52316881-52316882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52313061..52318898-chr10:52381919..52385253,10	MCF-7	breast:
2	chr10:52315809..52317364-chr10:52382275..52385092,2	K562	blood:
3	chr10:52315239..52317200-chr10:52324724..52326608,3	K562	blood:
4	chr10:52313546..52319488-chr10:52380502..52386285,13	K562	blood:
5	chr10:52310270..52314455-chr10:52315610..52319835,4	MCF-7	breast:
6	chr10:52316576..52318310-chr10:52369103..52371692,2	K562	blood:
7	chr10:52315813..52318278-chr10:52376288..52379260,2	K562	blood:
8	chr10:52310656..52316983-chr10:52334408..52339466,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11006152	1.00[EUR][1000 genomes]
rs11814231	1.00[EUR][1000 genomes]
rs12265262	1.00[AMR][1000 genomes]
rs16934269	1.00[EUR][1000 genomes]
rs16934373	1.00[EUR][1000 genomes]
rs41417550	1.00[EUR][1000 genomes]
rs58675275	1.00[EUR][1000 genomes]
rs59273165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60757498	1.00[EUR][1000 genomes]
rs7100732	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73318725	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73318727	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73318732	1.00[EUR][1000 genomes]
rs73318745	1.00[EUR][1000 genomes]
rs74131296	1.00[EUR][1000 genomes]
rs7900063	1.00[EUR][1000 genomes]
rs7921654	1.00[EUR][1000 genomes]
rs7922659	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:52299600-52320600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:52300800-52322800	Weak transcription	Primary B cells from cord blood	blood
4	chr10:52301600-52327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:52305400-52329600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr10:52306000-52319000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:52306000-52321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:52306000-52322000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr10:52306000-52331800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
11	chr10:52310400-52323800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr10:52310600-52323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:52310600-52327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:52311000-52323600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:52311000-52335800	Weak transcription	Esophagus	oesophagus
16	chr10:52312000-52317000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr10:52312600-52321000	Weak transcription	NH-A	brain
18	chr10:52312800-52319800	Enhancers	NHLF	lung
19	chr10:52312800-52335800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:52312800-52335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:52313000-52317000	Enhancers	Brain Anterior Caudate	brain
22	chr10:52313000-52317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:52313000-52319200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:52313000-52320600	Weak transcription	HepG2	liver
25	chr10:52313000-52322800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr10:52313200-52333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr10:52313600-52317800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr10:52313600-52337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr10:52313800-52320800	Weak transcription	Fetal Kidney	kidney
30	chr10:52314200-52318400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr10:52314600-52317000	Enhancers	Adipose Nuclei	Adipose
32	chr10:52314600-52317000	Enhancers	Fetal Lung	lung
33	chr10:52314600-52317000	Flanking Active TSS	K562	blood
34	chr10:52314600-52318000	Enhancers	Osteobl	bone
35	chr10:52314600-52318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:52314600-52318600	Enhancers	Rectal Smooth Muscle	rectum
37	chr10:52314600-52319600	Enhancers	NHDF-Ad	bronchial
38	chr10:52314800-52317000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:52314800-52317000	Enhancers	Liver	Liver
40	chr10:52315000-52317400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr10:52315000-52322800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:52315000-52329600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr10:52315200-52320800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:52315200-52323600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:52315200-52337400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr10:52315400-52322000	Weak transcription	Fetal Thymus	thymus
47	chr10:52315600-52319400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr10:52315600-52320800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr10:52315600-52323800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr10:52315600-52336000	Weak transcription	GM12878-XiMat	blood

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