Variant report

Variant	esv3348185
Chromosome Location	chrX:104784046-104786044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73529025	chrX:104784211-104784212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368306631	chrX:104784263-104784264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188322339	chrX:104784276-104784277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193184671	chrX:104784290-104784291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185265448	chrX:104784353-104784354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370878110	chrX:104784476-104784477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369000517	chrX:104784768-104784769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55654866	chrX:104784769-104784770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374435714	chrX:104784775-104784776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55830405	chrX:104784782-104784783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377034904	chrX:104784787-104784788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377522759	chrX:104784788-104784789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370421322	chrX:104784804-104784805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6652927	chrX:104784806-104784807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371079024	chrX:104784811-104784812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5962545	chrX:104784826-104784827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201505780	chrX:104784832-104784833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5962291	chrX:104784837-104784838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55861814	chrX:104784855-104784856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367622651	chrX:104784866-104784867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56200613	chrX:104784876-104784877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371519064	chrX:104784884-104784885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374452210	chrX:104784895-104784896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368457820	chrX:104784913-104784914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190509105	chrX:104784924-104784925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371854126	chrX:104784927-104784928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375018107	chrX:104784928-104784929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368072401	chrX:104784942-104784943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55944820	chrX:104784978-104784979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565814086	chrX:104784987-104784988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367926089	chrX:104785018-104785019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181904144	chrX:104785320-104785321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183467035	chrX:104785541-104785542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73529031	chrX:104785772-104785773	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs5916922	chrX:104785859-104785860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs5916923	chrX:104785899-104785900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6652399	chrX:104786024-104786025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61705965	chrX:104786028-104786029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Multiple myeloma	17550852	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Pelizaeus-Merzbacher disease	18923514	CNVD
Pelizaeus-Merzbacher disease	22241247	CNVD
Cervical cancer	21062161	CNVD
Myxofibrosarcoma	16751306	CNVD
Pelizaeus-Merzbacher disease	22470819	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:104772000-104785400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chrX:104780800-104785600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chrX:104785400-104786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chrX:104785400-104786200	Enhancers	HMEC	breast
5	chrX:104785400-104786400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chrX:104785400-104787600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chrX:104785400-104787600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chrX:104785400-104791400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chrX:104785600-104785800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chrX:104785600-104786000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chrX:104785600-104786000	Enhancers	NHEK	skin
12	chrX:104785600-104786200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chrX:104785600-104788800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chrX:104785600-104790800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chrX:104785800-104786200	Enhancers	H9 Cell Line	embryonic stem cell
16	chrX:104786000-104787000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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