Variant report

Variant	nsv7037
Chromosome Location	chrX:109927893-109972675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:109919116..109920694-chrX:109934035..109936936,2	K562	blood:
2	chrX:109961187..109962748-chrX:109971827..109973490,2	K562	blood:
3	chrX:109961187..109962748-chrX:109971827..109973490,2	K562	blood:

Extended variants
information (count: 791 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148732677	chrX:109927926-109927927	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73260103	chrX:109927941-109927942	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374767500	chrX:109927950-109927951	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181810823	chrX:109927960-109927961	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200082132	chrX:109927998-109927999	Enhancers Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186497637	chrX:109928095-109928096	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146378014	chrX:109928218-109928219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188887007	chrX:109928305-109928306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5943048	chrX:109928432-109928433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546794832	chrX:109928499-109928500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5943049	chrX:109928545-109928546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182008003	chrX:109928578-109928579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186313795	chrX:109928735-109928736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151109563	chrX:109928743-109928744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571501487	chrX:109928899-109928900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191605358	chrX:109928953-109928954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149656390	chrX:109928986-109928987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35640064	chrX:109929007-109929008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56890319	chrX:109929062-109929063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs5943050	chrX:109929063-109929064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72389100	chrX:109929115-109929116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73526488	chrX:109929182-109929183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185952489	chrX:109929190-109929191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189799078	chrX:109929234-109929235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73260104	chrX:109929295-109929296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148862890	chrX:109929465-109929466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5943051	chrX:109929506-109929507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138144847	chrX:109929632-109929633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369203854	chrX:109929642-109929643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10047014	chrX:109929651-109929652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377516403	chrX:109929812-109929813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10047007	chrX:109929882-109929883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148263888	chrX:109929959-109929960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5985303	chrX:109930073-109930074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371184194	chrX:109930120-109930121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12013614	chrX:109930126-109930127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72150430	chrX:109930137-109930138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200188175	chrX:109930138-109930139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57985959	chrX:109930143-109930144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528670562	chrX:109930184-109930185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141844479	chrX:109930246-109930247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150602357	chrX:109930286-109930287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150273233	chrX:109930340-109930341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74444644	chrX:109930410-109930411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373898588	chrX:109930443-109930444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376305004	chrX:109930632-109930633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138718249	chrX:109930702-109930703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183074702	chrX:109930711-109930712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187803004	chrX:109930713-109930714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5942677	chrX:109930730-109930731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:44)

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
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109910800-109936600	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:109919400-109938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chrX:109919400-109948800	Weak transcription	Adipose Nuclei	Adipose
4	chrX:109925400-109931200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chrX:109926000-109928200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chrX:109926200-109928200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chrX:109926400-109928000	Enhancers	H9 Cell Line	embryonic stem cell
8	chrX:109926600-109928000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chrX:109926800-109928200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chrX:109927400-109928000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chrX:109927600-109928200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chrX:109927800-109928200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chrX:109927800-109928200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chrX:109928000-109931800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chrX:109928200-109936200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chrX:109931200-109932200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chrX:109931800-109932200	Enhancers	H9 Cell Line	embryonic stem cell
18	chrX:109932200-109933600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chrX:109933600-109935000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chrX:109934000-109935000	Weak transcription	Colon Smooth Muscle	Colon
21	chrX:109934000-109936000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chrX:109934600-109935200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chrX:109934600-109935800	Enhancers	NHDF-Ad	bronchial
24	chrX:109935000-109935400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chrX:109935400-109939200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chrX:109935800-109937000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chrX:109936200-109937400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chrX:109936400-109936800	Enhancers	Fetal Thymus	thymus
29	chrX:109936600-109937200	Enhancers	Primary hematopoietic stem cells	blood
30	chrX:109936800-109941000	Weak transcription	Fetal Thymus	thymus
31	chrX:109937000-109940800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chrX:109937200-109941200	Weak transcription	Primary hematopoietic stem cells	blood
33	chrX:109937400-109940800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chrX:109938000-109938200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chrX:109939200-109939600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chrX:109939600-109943400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chrX:109940400-109940800	Enhancers	GM12878-XiMat	blood
38	chrX:109940800-109941200	Weak transcription	GM12878-XiMat	blood
39	chrX:109940800-109942400	Enhancers	Dnd41	blood
40	chrX:109940800-109942600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chrX:109940800-109942600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chrX:109941000-109941600	Enhancers	Fetal Thymus	thymus
43	chrX:109941200-109942600	Enhancers	Primary hematopoietic stem cells	blood
44	chrX:109941200-109942600	Enhancers	GM12878-XiMat	blood
45	chrX:109941800-109942200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chrX:109941800-109942200	Enhancers	Stomach Mucosa	stomach
47	chrX:109942200-109942600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chrX:109942200-109942600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chrX:109942200-109942600	Enhancers	NHDF-Ad	bronchial
50	chrX:109942400-109942600	Bivalent Enhancer	Fetal Kidney	kidney

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