Variant report

Variant	esv3385698
Chromosome Location	chr10:22650046-22652194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:22650524-22650584	Fibrobl	skin:	n/a	n/a
2	POLR2A	chr10:22651580-22651603	Gliobla	brain:	n/a	n/a
3	POLR2A	chr10:22650979-22651152	K562	blood:	n/a	n/a
4	POLR2A	chr10:22650074-22650674	K562	blood:	n/a	n/a
5	POLR2A	chr10:22651512-22651905	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22629259..22630850-chr10:22651905..22653653,2	K562	blood:
2	chr10:22646085..22648146-chr10:22650978..22653545,2	K562	blood:
3	chr10:22645256..22647739-chr10:22650282..22653945,4	K562	blood:
4	chr10:22629399..22631844-chr10:22647631..22650526,2	MCF-7	breast:
5	chr10:22650743..22652825-chr10:22653844..22655766,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMI1-1	chr10:22650101-22650350	ENSG00000233451.1

No data

Variant related genes	Relation type
ENSG00000233451	TF binding region
ENSG00000272366	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574732254	chr10:22650068-22650069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540955814	chr10:22650095-22650096	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189171941	chr10:22650143-22650144	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs532773054	chr10:22650158-22650159	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs567512434	chr10:22650203-22650204	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs146450416	chr10:22650205-22650206	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs531832629	chr10:22650206-22650207	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs564980002	chr10:22650216-22650217	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs530575024	chr10:22650228-22650229	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs553941513	chr10:22650242-22650243	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs547810770	chr10:22650261-22650262	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs550402335	chr10:22650273-22650274	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs192460428	chr10:22650279-22650280	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs535858198	chr10:22650349-22650350	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs183718974	chr10:22650363-22650364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141043909	chr10:22650371-22650372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566627389	chr10:22650373-22650374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574105982	chr10:22650379-22650380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558291529	chr10:22650392-22650393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575091544	chr10:22650397-22650398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540228542	chr10:22651953-22651954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559756443	chr10:22651999-22652000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2026632	chr10:22652028-22652029	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs552081572	chr10:22652039-22652040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537580769	chr10:22652059-22652060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149412234	chr10:22652087-22652088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531546318	chr10:22652127-22652128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548037099	chr10:22652137-22652138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144799493	chr10:22652141-22652142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148551886	chr10:22652145-22652146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554299779	chr10:22652157-22652158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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