Variant report

Variant	nsv6935
Chromosome Location	chrX:65943016-65987709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:65420975..65421894-chrX:65948233..65949029,2	MCF-7	breast:
2	chrX:65330062..65330591-chrX:65948300..65949050,3	MCF-7	breast:
3	chr1:16838565..16842080-chrX:65944520..65947520,4	K562	blood:
4	chrX:65421200..65421901-chrX:65948234..65949098,4	MCF-7	breast:
5	chrX:64801614..64802539-chrX:65948756..65949257,2	MCF-7	breast:
6	chrX:65420456..65421112-chrX:65948321..65948834,2	MCF-7	breast:
7	chrX:65628289..65628799-chrX:65948303..65948910,3	MCF-7	breast:
8	chr1:16839287..16842291-chrX:65944500..65946020,4	K562	blood:
9	chrX:65980206..65981190-chrX:67238110..67238888,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261135	chromatin interactions
ENSG00000206652	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189316511	chrX:65944615-65944616	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201413370	chrX:65944689-65944690	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs5919182	chrX:65944773-65944774	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs199671437	chrX:65944774-65944775	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185743149	chrX:65944828-65944829	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190650527	chrX:65944984-65944985	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377585540	chrX:65944997-65944998	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs36094229	chrX:65945090-65945091	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150430001	chrX:65945198-65945199	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181468526	chrX:65945279-65945280	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186151324	chrX:65945291-65945292	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201571417	chrX:65945391-65945392	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370201829	chrX:65945392-65945393	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2446377	chrX:65945464-65945465	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs16990142	chrX:65945561-65945562	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113989029	chrX:65945704-65945705	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139030087	chrX:65945748-65945749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs181359895	chrX:65945924-65945925	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186012445	chrX:65946017-65946018	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374399435	chrX:65946117-65946118	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552418127	chrX:65946173-65946174	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs151279190	chrX:65946259-65946260	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368541796	chrX:65946330-65946331	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369120114	chrX:65946350-65946351	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112563254	chrX:65946362-65946363	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74715822	chrX:65946365-65946366	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs73632148	chrX:65946410-65946411	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7876789	chrX:65946411-65946412	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs190931350	chrX:65946429-65946430	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150539038	chrX:65946460-65946461	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201690923	chrX:65946555-65946556	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113139160	chrX:65946558-65946559	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201043847	chrX:65946588-65946589	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs5919183	chrX:65946713-65946714	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201999607	chrX:65946819-65946820	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184026275	chrX:65946836-65946837	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73632149	chrX:65946918-65946919	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188626532	chrX:65946987-65946988	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs147844809	chrX:65947306-65947307	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141474700	chrX:65947316-65947317	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs59015133	chrX:65947378-65947379	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374446647	chrX:65947379-65947380	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs202202278	chrX:65947384-65947385	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187855730	chrX:65948417-65948418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192147813	chrX:65948459-65948460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs58305279	chrX:65948503-65948504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545456558	chrX:65948505-65948506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs58018254	chrX:65948506-65948507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs5919184	chrX:65948631-65948632	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374258127	chrX:65948713-65948714	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Astrocytoma	22246337	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Craniofrontonasal syndrome	21572526	CNVD
Cerebellar hypoplasia	21569638	CNVD
Disorders of sex development	21048976	CNVD
Myxofibrosarcoma	16751306	CNVD
Cervical cancer	21062161	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65948400-65949200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chrX:65948400-65949200	Active TSS	Primary T cells fromperipheralblood	blood
3	chrX:65948400-65949200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chrX:65948400-65949400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chrX:65948600-65948800	Active TSS	Adipose Nuclei	Adipose
6	chrX:65948600-65948800	Flanking Active TSS	Liver	Liver
7	chrX:65948600-65948800	Active TSS	Ovary	ovary
8	chrX:65948600-65948800	Active TSS	Pancreas	Pancrea
9	chrX:65948600-65949000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chrX:65948600-65949000	Active TSS	Primary neutrophils fromperipheralblood	blood
11	chrX:65948600-65949000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chrX:65948600-65949000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chrX:65948600-65949000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chrX:65948600-65949000	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chrX:65948600-65949000	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chrX:65948600-65949000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chrX:65948600-65949000	Active TSS	Brain Anterior Caudate	brain
18	chrX:65948600-65949000	Active TSS	Brain Germinal Matrix	brain
19	chrX:65948600-65949000	Active TSS	Colonic Mucosa	Colon
20	chrX:65948600-65949000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chrX:65948600-65949000	Active TSS	Left Ventricle	heart
22	chrX:65948600-65949000	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chrX:65948600-65949000	Active TSS	Stomach Mucosa	stomach
24	chrX:65948600-65949000	Active TSS	GM12878-XiMat	blood
25	chrX:65948600-65949200	Active TSS	H1 Cell Line	embryonic stem cell
26	chrX:65948600-65949200	Active TSS	H9 Cell Line	embryonic stem cell
27	chrX:65948600-65949200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chrX:65948600-65949200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chrX:65948600-65949200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chrX:65948600-65949200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chrX:65948600-65949200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chrX:65948600-65949200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chrX:65948600-65949200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chrX:65948600-65949200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chrX:65948600-65949200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chrX:65948600-65949200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chrX:65948600-65949200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chrX:65948600-65949200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chrX:65948600-65949200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chrX:65948600-65949200	Active TSS	Primary B cells from cord blood	blood
41	chrX:65948600-65949200	Active TSS	Primary T cells from cord blood	blood
42	chrX:65948600-65949200	Active TSS	Primary hematopoietic stem cells	blood
43	chrX:65948600-65949200	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chrX:65948600-65949200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chrX:65948600-65949200	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chrX:65948600-65949200	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chrX:65948600-65949200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chrX:65948600-65949200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chrX:65948600-65949200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chrX:65948600-65949200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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