Variant report

Variant	nsv916078
Chromosome Location	chrX:77450503-77541531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:77454494..77457193-chrX:77458259..77461066,2	MCF-7	breast:
2	chrX:77488531..77491310-chrX:77494557..77496289,2	MCF-7	breast:
3	chrX:77488531..77491310-chrX:77494557..77496289,2	MCF-7	breast:
4	chrX:77454494..77457193-chrX:77458259..77461066,2	MCF-7	breast:

Extended variants
information (count: 556 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576174750	chrX:77466865-77466866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs57017608	chrX:77466974-77466975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557171685	chrX:77467031-77467032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190987512	chrX:77467125-77467126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375015540	chrX:77467134-77467135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs372185876	chrX:77467315-77467316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184077049	chrX:77467358-77467359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543530371	chrX:77467571-77467572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs367851640	chrX:77467770-77467771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187768774	chrX:77467779-77467780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12864133	chrX:77467821-77467822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12832336	chrX:77467914-77467915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs192393509	chrX:77467920-77467921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372087933	chrX:77467947-77467948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147340344	chrX:77468031-77468032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375517928	chrX:77468054-77468055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183168226	chrX:77468266-77468267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7881218	chrX:77468303-77468304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7884405	chrX:77468343-77468344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187033423	chrX:77468403-77468404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375805922	chrX:77468458-77468459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191924692	chrX:77468692-77468693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370200481	chrX:77468703-77468704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3922593	chrX:77468792-77468793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184304895	chrX:77468832-77468833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs202093534	chrX:77468872-77468873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187532208	chrX:77469122-77469123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193232452	chrX:77469226-77469227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185690901	chrX:77469258-77469259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374753157	chrX:77469273-77469274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142948523	chrX:77469311-77469312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189318195	chrX:77469314-77469315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180951024	chrX:77469368-77469369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151114818	chrX:77469390-77469391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562298343	chrX:77469473-77469474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141077563	chrX:77469530-77469531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369114748	chrX:77469563-77469564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574282516	chrX:77469593-77469594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183981027	chrX:77469594-77469595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541786672	chrX:77469790-77469791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188708747	chrX:77469839-77469840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181394885	chrX:77469885-77469886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540099235	chrX:77470032-77470033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186071701	chrX:77470055-77470056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35958343	chrX:77470132-77470133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34687722	chrX:77470157-77470158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150276149	chrX:77470163-77470164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191691721	chrX:77470168-77470169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78018732	chrX:77470175-77470176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55780843	chrX:77470176-77470177	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Acute myeloid leukemia	20729466	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
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	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
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:77466800-77468200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chrX:77468200-77469200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:77468800-77469600	Enhancers	Fetal Intestine Large	intestine
4	chrX:77469200-77470200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrX:77493000-77493400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chrX:77496400-77497000	Enhancers	Dnd41	blood
7	chrX:77519000-77535000	Weak transcription	Primary B cells from cord blood	blood
8	chrX:77525000-77528200	Weak transcription	Primary B cells from peripheral blood	blood
9	chrX:77525800-77526000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chrX:77526000-77526600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chrX:77526000-77526600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chrX:77526000-77546200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chrX:77526200-77535200	Weak transcription	Primary hematopoietic stem cells	blood
14	chrX:77526400-77528200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chrX:77526400-77536800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chrX:77526600-77526800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chrX:77526600-77530400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chrX:77526600-77535200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chrX:77526800-77528400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chrX:77527600-77530000	Weak transcription	Duodenum Mucosa	Duodenum
21	chrX:77527800-77530200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chrX:77527800-77534800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chrX:77528200-77529200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chrX:77528200-77529800	Strong transcription	Primary B cells from peripheral blood	blood
25	chrX:77528400-77529200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chrX:77529200-77531600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chrX:77529200-77535000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chrX:77529800-77534800	Weak transcription	Primary B cells from peripheral blood	blood
29	chrX:77531600-77535800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chrX:77532600-77533000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chrX:77532800-77540400	Weak transcription	Primary T cells from cord blood	blood
32	chrX:77534800-77535000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chrX:77534800-77536000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chrX:77535000-77535400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chrX:77535000-77535600	Strong transcription	Primary B cells from cord blood	blood
36	chrX:77535000-77539200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chrX:77535200-77535600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chrX:77535200-77535800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chrX:77535400-77536400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chrX:77535600-77537200	Weak transcription	Primary B cells from cord blood	blood
41	chrX:77535600-77542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chrX:77535800-77536200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chrX:77535800-77541400	Weak transcription	Primary hematopoietic stem cells	blood
44	chrX:77536000-77537200	Weak transcription	Primary B cells from peripheral blood	blood
45	chrX:77536200-77536600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chrX:77536400-77539600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chrX:77536600-77541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chrX:77536800-77537200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chrX:77537200-77538000	Strong transcription	Primary B cells from peripheral blood	blood
50	chrX:77537200-77538200	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links