Variant report

Variant	rs73318745
Chromosome Location	chr10:52331882-52331883
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52330729..52340229-chr10:52381715..52386294,12	K562	blood:
2	chr10:52331777..52334924-chr10:52380252..52384970,6	MCF-7	breast:
3	chr10:52331103..52333638-chr10:52341359..52343782,2	K562	blood:
4	chr10:52331790..52334326-chr10:52382272..52386294,4	K562	blood:
5	chr10:52331558..52333625-chr10:52337015..52339577,2	MCF-7	breast:
6	chr10:52331050..52332991-chr10:52337513..52339073,2	K562	blood:

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:17)

rs_ID	r²[population]
rs11006152	1.00[EUR][1000 genomes]
rs11814231	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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[EUR][1000 genomes]
rs60757498	1.00[EUR][1000 genomes]
rs7100732	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73318725	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73318727	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73318732	1.00[EUR][1000 genomes]
rs73318734	1.00[EUR][1000 genomes]
rs74131296	1.00[EUR][1000 genomes]
rs7900063	1.00[EUR][1000 genomes]
rs7921654	1.00[EUR][1000 genomes]
rs7922659	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
8	nsv8660	chr10:52328259-52346278	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
2	chr10:52311000-52335800	Weak transcription	Esophagus	oesophagus
3	chr10:52312800-52335800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:52312800-52335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:52313200-52333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr10:52313600-52337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:52315200-52337400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:52315600-52336000	Weak transcription	GM12878-XiMat	blood
9	chr10:52316800-52332000	Weak transcription	Aorta	Aorta
10	chr10:52316800-52332600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr10:52319200-52335800	Weak transcription	Spleen	Spleen
12	chr10:52319600-52335600	Weak transcription	NHEK	skin
13	chr10:52321600-52335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:52321800-52335600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:52321800-52335600	Weak transcription	Adipose Nuclei	Adipose
16	chr10:52322000-52335800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:52322000-52337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
19	chr10:52322200-52335600	Weak transcription	NHLF	lung
20	chr10:52322800-52333800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:52322800-52335600	Weak transcription	Fetal Lung	lung
22	chr10:52322800-52336000	Weak transcription	Placenta	Placenta
23	chr10:52324000-52336600	Weak transcription	Thymus	Thymus
24	chr10:52324000-52337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:52324400-52336800	Weak transcription	Primary B cells from cord blood	blood
26	chr10:52324400-52336800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:52325400-52336000	Weak transcription	Stomach Mucosa	stomach
28	chr10:52325800-52335200	Weak transcription	Right Ventricle	heart
29	chr10:52325800-52336000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr10:52326200-52332000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:52327400-52332200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:52327400-52336000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:52327600-52335800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr10:52328000-52335400	Weak transcription	Fetal Heart	heart
35	chr10:52328600-52336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:52328800-52334000	Enhancers	K562	blood
37	chr10:52329000-52332000	Enhancers	Liver	Liver
38	chr10:52329200-52332400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr10:52329600-52332400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr10:52329600-52332800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr10:52329600-52332800	Enhancers	Fetal Intestine Large	intestine
42	chr10:52329800-52332800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr10:52329800-52332800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr10:52329800-52335600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:52329800-52336600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr10:52329800-52341600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr10:52330400-52332000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:52330400-52332800	Enhancers	Fetal Intestine Small	intestine
49	chr10:52331000-52332000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:52331000-52332400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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