Variant report

Variant	rs536719354
Chromosome Location	chr10:52328911-52328912
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52324915..52329170-chr10:52335171..52340296,4	K562	blood:
2	chr10:52324915..52329170-chr10:52337236..52340296,3	K562	blood:
3	chr10:52319893..52329540-chr10:52377624..52388129,20	MCF-7	breast:
4	chr10:52317228..52319701-chr10:52328035..52331029,3	K562	blood:
5	chr10:52328331..52329887-chr10:52343313..52346143,2	K562	blood:
6	chr10:52323633..52328946-chr10:52382781..52388541,7	K562	blood:

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000251950	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52305400-52329600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr10:52306000-52331800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
4	chr10:52311000-52335800	Weak transcription	Esophagus	oesophagus
5	chr10:52312800-52335800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:52312800-52335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:52313200-52333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr10:52313600-52337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:52315000-52329600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:52315200-52337400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:52315600-52336000	Weak transcription	GM12878-XiMat	blood
12	chr10:52316400-52331800	Weak transcription	Lung	lung
13	chr10:52316800-52332000	Weak transcription	Aorta	Aorta
14	chr10:52316800-52332600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr10:52318200-52331800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr10:52318400-52329600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:52319200-52335800	Weak transcription	Spleen	Spleen
18	chr10:52319600-52335600	Weak transcription	NHEK	skin
19	chr10:52321600-52335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:52321800-52331600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:52321800-52331600	Weak transcription	Psoas Muscle	Psoas
22	chr10:52321800-52335600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:52321800-52335600	Weak transcription	Adipose Nuclei	Adipose
24	chr10:52322000-52330200	Weak transcription	Hela-S3	cervix
25	chr10:52322000-52331000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr10:52322000-52335800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:52322000-52337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
29	chr10:52322200-52335600	Weak transcription	NHLF	lung
30	chr10:52322800-52333800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr10:52322800-52335600	Weak transcription	Fetal Lung	lung
32	chr10:52322800-52336000	Weak transcription	Placenta	Placenta
33	chr10:52324000-52329200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:52324000-52331800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:52324000-52336600	Weak transcription	Thymus	Thymus
36	chr10:52324000-52337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:52324200-52329600	Weak transcription	Fetal Intestine Large	intestine
38	chr10:52324400-52330400	Weak transcription	Fetal Intestine Small	intestine
39	chr10:52324400-52331800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr10:52324400-52336800	Weak transcription	Primary B cells from cord blood	blood
41	chr10:52324400-52336800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr10:52325400-52336000	Weak transcription	Stomach Mucosa	stomach
43	chr10:52325600-52331800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:52325800-52331000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:52325800-52331800	Weak transcription	Gastric	stomach
46	chr10:52325800-52331800	Weak transcription	Left Ventricle	heart
47	chr10:52325800-52331800	Weak transcription	Ovary	ovary
48	chr10:52325800-52331800	Weak transcription	Right Atrium	heart
49	chr10:52325800-52335200	Weak transcription	Right Ventricle	heart
50	chr10:52325800-52336000	Weak transcription	Primary B cells from peripheral blood	blood

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