Variant report

Variant	nsv934278
Chromosome Location	chrX:80047145-80049047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:80046721..80048869-chrX:80050793..80053452,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112804647	chrX:80047286-80047287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374496429	chrX:80047435-80047436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201683302	chrX:80047438-80047439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74704167	chrX:80047639-80047640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533906810	chrX:80047868-80047869	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs191979716	chrX:80047878-80047879	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184963043	chrX:80047925-80047926	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6622366	chrX:80047952-80047953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4625156	chrX:80048140-80048141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142938137	chrX:80048248-80048249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150663223	chrX:80048383-80048384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375089932	chrX:80048386-80048387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558330877	chrX:80048419-80048420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577374589	chrX:80048443-80048444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189338304	chrX:80048533-80048534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199874346	chrX:80048623-80048624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201065966	chrX:80048660-80048661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538054233	chrX:80048683-80048684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397958897	chrX:80048686-80048687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6622367	chrX:80048759-80048760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7054751	chrX:80048998-80048999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373782230	chrX:80049038-80049039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80017800-80047200	Weak transcription	Primary B cells from peripheral blood	blood
2	chrX:80019400-80055000	Weak transcription	Primary T cells from cord blood	blood
3	chrX:80020000-80063000	Weak transcription	Thymus	Thymus
4	chrX:80020200-80063600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chrX:80020800-80062800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chrX:80021000-80062600	Weak transcription	A549	lung
7	chrX:80021200-80063000	Weak transcription	Osteobl	bone
8	chrX:80022600-80063600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chrX:80022800-80063000	Weak transcription	Fetal Intestine Small	intestine
10	chrX:80025600-80063000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chrX:80026200-80061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chrX:80028200-80047800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chrX:80028600-80049600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chrX:80028600-80063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chrX:80031800-80047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chrX:80032400-80063000	Weak transcription	Primary hematopoietic stem cells	blood
17	chrX:80032400-80063000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chrX:80032600-80062800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chrX:80034200-80062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chrX:80035400-80062800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chrX:80036600-80062600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chrX:80036800-80062000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chrX:80037200-80062600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chrX:80037800-80054200	Weak transcription	Fetal Thymus	thymus
25	chrX:80038200-80062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chrX:80039200-80049400	Weak transcription	NH-A	brain
27	chrX:80039800-80063000	Weak transcription	Brain Germinal Matrix	brain
28	chrX:80040000-80054400	Weak transcription	Fetal Stomach	stomach
29	chrX:80040000-80055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chrX:80040000-80063000	Weak transcription	Duodenum Mucosa	Duodenum
31	chrX:80040200-80062800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chrX:80041400-80063000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chrX:80041600-80047800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chrX:80041800-80062600	Weak transcription	Fetal Intestine Large	intestine
35	chrX:80042000-80049200	Weak transcription	Fetal Lung	lung
36	chrX:80042200-80048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chrX:80042200-80062400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chrX:80042800-80052200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chrX:80042800-80054600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chrX:80043000-80052600	Weak transcription	Fetal Kidney	kidney
41	chrX:80043400-80055400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chrX:80043600-80047800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chrX:80043600-80055600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chrX:80044000-80054600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chrX:80044000-80063000	Weak transcription	HSMM	muscle
46	chrX:80044200-80047800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chrX:80044400-80062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chrX:80044600-80047400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chrX:80044600-80047400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chrX:80044600-80047400	Strong transcription	Monocytes-CD14+_RO01746	blood

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