Variant report

Variant	nsv525039
Chromosome Location	chrX:6154630-6225609
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:6172159..6173803-chrX:6174746..6177645,2	MCF-7	breast:
2	chrX:6172159..6173803-chrX:6174746..6177645,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STS-5	chrX:6193676-6193984	NONHSAT136166
2	lnc-STS-5	chrX:6194587-6194683	NONHSAT136166

Extended variants
information (count: 649 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144682272	chrX:6163018-6163019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148100969	chrX:6163166-6163167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368473947	chrX:6163197-6163198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113439996	chrX:6163220-6163221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5916361	chrX:6163224-6163225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1902185	chrX:6163226-6163227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5961967	chrX:6165891-6165892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368180923	chrX:6165910-6165911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192423626	chrX:6166308-6166309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138992971	chrX:6166312-6166313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184790502	chrX:6166329-6166330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373637601	chrX:6166447-6166448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190220624	chrX:6166624-6166625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367804390	chrX:6166629-6166630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2045210	chrX:6166669-6166670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11448469	chrX:6166674-6166675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398121938	chrX:6166679-6166680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112153682	chrX:6166732-6166733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184701846	chrX:6166759-6166760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371500076	chrX:6166760-6166761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189681270	chrX:6166761-6166762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369703001	chrX:6166775-6166776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150401793	chrX:6166828-6166829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180748279	chrX:6166837-6166838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185253745	chrX:6166964-6166965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138174951	chrX:6166985-6166986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559190078	chrX:6167037-6167038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs5961968	chrX:6167058-6167059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs5961969	chrX:6167076-6167077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371745624	chrX:6167094-6167095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201495176	chrX:6167253-6167254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139166213	chrX:6167316-6167317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188395136	chrX:6167425-6167426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112951664	chrX:6167614-6167615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs5961970	chrX:6167674-6167675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181918512	chrX:6167685-6167686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187387186	chrX:6167709-6167710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4826840	chrX:6167731-6167732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11447776	chrX:6167750-6167751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191664391	chrX:6167783-6167784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183435777	chrX:6167825-6167826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12854268	chrX:6167923-6167924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113270086	chrX:6168036-6168037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112332918	chrX:6168106-6168107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186403085	chrX:6168179-6168180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191243016	chrX:6168200-6168201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181556242	chrX:6174630-6174631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73184667	chrX:6174654-6174655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185877937	chrX:6174689-6174690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191215290	chrX:6174721-6174722	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
turner syndrome	20877625	CNVD
Kallmann Syndrome 1	22470819	CNVD
short stature	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
Autism	20643418	CNVD
Autism	23710042	CNVD
Schizophrenia	23710042	CNVD
Abnormal phenotypes	21355048	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Microphthalmia	21572526	CNVD
Steroid sulfatase deficiency	21549014	CNVD
Attention deficit hyperactivity disorder	21355048	CNVD
Ichthyosis	21355048	CNVD
Mental retardation	21355048	CNVD
Immune disease	21076436	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:6163000-6163400	Enhancers	Lung	lung
2	chrX:6165600-6168600	Enhancers	Dnd41	blood
3	chrX:6165800-6166600	Enhancers	Fetal Thymus	thymus
4	chrX:6174600-6176000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chrX:6174600-6176000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chrX:6174800-6175200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chrX:6174800-6175600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chrX:6174800-6175600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chrX:6175000-6175400	Enhancers	H9 Cell Line	embryonic stem cell
10	chrX:6175000-6176000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chrX:6175200-6175600	Enhancers	H1 Cell Line	embryonic stem cell
12	chrX:6175600-6176600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chrX:6176600-6176800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chrX:6182600-6183000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chrX:6182600-6183000	Enhancers	Fetal Brain Male	brain
16	chrX:6182600-6183600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chrX:6182800-6183200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chrX:6182800-6183200	Enhancers	Brain Germinal Matrix	brain
19	chrX:6188200-6188400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chrX:6188400-6188800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chrX:6188400-6189000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chrX:6188400-6190000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chrX:6188600-6188800	Enhancers	H9 Cell Line	embryonic stem cell
24	chrX:6188600-6189200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chrX:6188800-6189000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chrX:6188800-6194200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chrX:6189000-6190000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chrX:6189200-6190000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chrX:6190000-6190200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chrX:6190000-6190400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chrX:6190000-6190400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chrX:6190200-6196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chrX:6190400-6194000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chrX:6193200-6193400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chrX:6194000-6194200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chrX:6194000-6195200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chrX:6194200-6195200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chrX:6194800-6195200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chrX:6195200-6196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chrX:6195200-6196000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chrX:6195200-6196200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chrX:6196000-6196600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chrX:6196000-6196800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chrX:6196000-6197000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chrX:6196000-6197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chrX:6196200-6197200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chrX:6196200-6197600	Enhancers	H1 Cell Line	embryonic stem cell
48	chrX:6196200-6197600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chrX:6196200-6198800	Enhancers	H9 Cell Line	embryonic stem cell
50	chrX:6196400-6196800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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