Variant report

Variant	nsv528749
Chromosome Location	chrX:5883977-5944178
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:5939484..5940010-chrX:6281086..6281665,2	MCF-7	breast:

Extended variants
information (count: 1039 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5961389	chrX:5883977-5883978	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569879032	chrX:5884200-5884201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180826435	chrX:5884287-5884288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145967391	chrX:5884354-5884355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186276458	chrX:5884369-5884370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377547224	chrX:5884509-5884510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190303914	chrX:5884518-5884519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182035007	chrX:5884546-5884547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371064251	chrX:5884548-5884549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148220593	chrX:5884576-5884577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530692107	chrX:5884578-5884579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185955778	chrX:5884604-5884605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190718901	chrX:5884606-5884607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141498711	chrX:5884685-5884686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5961902	chrX:5884755-5884756	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182503798	chrX:5884790-5884791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35211998	chrX:5884817-5884818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57535542	chrX:5884818-5884819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186380288	chrX:5884866-5884867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139394035	chrX:5884961-5884962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376715392	chrX:5885037-5885038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72627591	chrX:5885154-5885155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147334921	chrX:5885224-5885225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140703426	chrX:5885273-5885274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191575078	chrX:5885278-5885279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182551644	chrX:5885404-5885405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187973934	chrX:5885554-5885555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144664726	chrX:5885588-5885589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75203620	chrX:5885630-5885631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141690702	chrX:5885631-5885632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72627593	chrX:5885693-5885694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35622086	chrX:5885715-5885716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193066837	chrX:5885743-5885744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111343150	chrX:5885745-5885746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72627594	chrX:5885835-5885836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183367449	chrX:5885919-5885920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151201395	chrX:5886101-5886102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368353926	chrX:5886114-5886115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73442146	chrX:5886208-5886209	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187220228	chrX:5886234-5886235	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192144925	chrX:5886256-5886257	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs5961903	chrX:5886274-5886275	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138165114	chrX:5886398-5886399	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5961904	chrX:5886428-5886429	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376156968	chrX:5886462-5886463	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373332262	chrX:5886479-5886480	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374541658	chrX:5886499-5886500	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5961390	chrX:5886500-5886501	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199645820	chrX:5886501-5886502	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200658422	chrX:5886502-5886503	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
short stature	22470819	CNVD
turner syndrome	20877625	CNVD
Kallmann Syndrome 1	22470819	CNVD
Oro-facial digital syndrome	19023858	CNVD
Oro-facial digital syndrome	21572526	CNVD
Aicardi syndrome	21572526	CNVD
Vermis hypoplasia	21569638	CNVD
Opitz syndrome	21569638	CNVD
Opitz syndrome	21572526	CNVD
Oro-facial digital syndrome	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
T-cell lymphomas	19863542	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Seminomas	18059402	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Mental retardation	17406619	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21785460	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20486941	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20643418	CNVD
Autism	23710042	CNVD
Schizophrenia	23710042	CNVD
Abnormal phenotypes	21355048	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:5877400-5889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chrX:5877800-5891200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chrX:5878400-5894400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chrX:5883600-5887000	Strong transcription	Dnd41	blood
5	chrX:5886200-5887000	Enhancers	H9 Cell Line	embryonic stem cell
6	chrX:5887000-5889200	Weak transcription	Dnd41	blood
7	chrX:5887000-5901000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chrX:5889200-5890200	Strong transcription	Dnd41	blood
9	chrX:5889200-5890400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chrX:5889200-5890400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chrX:5889200-5890400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chrX:5889400-5889800	Enhancers	Ovary	ovary
13	chrX:5889600-5890200	Enhancers	HSMM	muscle
14	chrX:5889800-5890000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chrX:5889800-5892000	Weak transcription	Ovary	ovary
16	chrX:5890000-5890400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chrX:5890000-5890600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chrX:5890000-5890600	Enhancers	NH-A	brain
19	chrX:5890200-5890400	Enhancers	HSMMtube	muscle
20	chrX:5890200-5892000	Weak transcription	Dnd41	blood
21	chrX:5890400-5891200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chrX:5890600-5891000	Weak transcription	NH-A	brain
23	chrX:5890600-5891600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chrX:5891000-5891400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chrX:5891000-5891400	Enhancers	NH-A	brain
26	chrX:5891200-5891600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chrX:5891200-5891600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chrX:5891400-5894800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chrX:5891600-5894400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chrX:5892000-5892200	Enhancers	Ovary	ovary
31	chrX:5892000-5893000	Strong transcription	Dnd41	blood
32	chrX:5892200-5894600	Weak transcription	Ovary	ovary
33	chrX:5892800-5893200	Enhancers	Brain Angular Gyrus	brain
34	chrX:5893000-5893200	Genic enhancers	Dnd41	blood
35	chrX:5893200-5895800	Weak transcription	Dnd41	blood
36	chrX:5894400-5894600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chrX:5894400-5894800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chrX:5894600-5895000	Active TSS	Ovary	ovary
39	chrX:5894800-5895000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chrX:5895800-5897600	Strong transcription	Dnd41	blood
41	chrX:5897600-5904800	Weak transcription	Dnd41	blood
42	chrX:5901000-5901200	Enhancers	H9 Cell Line	embryonic stem cell
43	chrX:5904800-5906600	Strong transcription	Dnd41	blood
44	chrX:5906600-5910800	Weak transcription	Dnd41	blood
45	chrX:5908400-5909600	Enhancers	Fetal Brain Male	brain
46	chrX:5908800-5909000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chrX:5908800-5909000	Enhancers	Fetal Brain Female	brain
48	chrX:5908800-5909200	Enhancers	H9 Cell Line	embryonic stem cell
49	chrX:5908800-5909200	Enhancers	Ovary	ovary
50	chrX:5908800-5910000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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