Variant report

Variant	nsv521471
Chromosome Location	chrX:68943681-69127562
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:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:69107224..69108923-chrX:69114226..69116849,2	MCF-7	breast:
2	chrX:68981929..68984692-chrX:68986663..68988803,2	MCF-7	breast:
3	chrX:69107224..69108923-chrX:69114226..69116849,2	MCF-7	breast:
4	chrX:68981929..68984692-chrX:68986663..68988803,2	MCF-7	breast:
5	chrX:69056794..69058548-chrX:69060132..69062822,2	K562	blood:
6	chrX:69056794..69058548-chrX:69060132..69062822,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM155B-2	chrX:69080688-69080948	NONHSAT137392
2	lnc-FAM155B-2	chrX:68962853-68962896	NONHSAT137392
3	lnc-FAM155B-2	chrX:68969549-68969587	NONHSAT137392
4	lnc-FAM155B-2	chrX:68976719-68976748	NONHSAT137392
5	lnc-FAM155B-2	chrX:69080688-69080892	NONHSAT137393

No data

Extended variants
information (count: 2290 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2290 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2247412	chrX:68943681-68943682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147106264	chrX:68943682-68943683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189280901	chrX:68943755-68943756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6625506	chrX:68943812-68943813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371410090	chrX:68943880-68943881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551260705	chrX:68944100-68944101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181988538	chrX:68944429-68944430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34404315	chrX:68944437-68944438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35809655	chrX:68944462-68944463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35115645	chrX:68944467-68944468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141922345	chrX:68944569-68944570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113278765	chrX:68944570-68944571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185950340	chrX:68944584-68944585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190725068	chrX:68944610-68944611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181014280	chrX:68944672-68944673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376748699	chrX:68944720-68944721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150245805	chrX:68944766-68944767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138915633	chrX:68944898-68944899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186344317	chrX:68945025-68945026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190275254	chrX:68945432-68945433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141626281	chrX:68945445-68945446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370605134	chrX:68945521-68945522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113112360	chrX:68945599-68945600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146223981	chrX:68945601-68945602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7471564	chrX:68945715-68945716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182750774	chrX:68945886-68945887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187441546	chrX:68945905-68945906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555517736	chrX:68945949-68945950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201110861	chrX:68946059-68946060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190746738	chrX:68946067-68946068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183799438	chrX:68946194-68946195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189161020	chrX:68946312-68946313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192297673	chrX:68946572-68946573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62604169	chrX:68946577-68946578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73634201	chrX:68946582-68946583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144101669	chrX:68946604-68946605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5936493	chrX:68946979-68946980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2490728	chrX:68946992-68946993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573930622	chrX:68947000-68947001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183007887	chrX:68947019-68947020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151193552	chrX:68947027-68947028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139703830	chrX:68947063-68947064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373965196	chrX:68947079-68947080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144701488	chrX:68947166-68947167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187818161	chrX:68947302-68947303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191791377	chrX:68947614-68947615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184426351	chrX:68947815-68947816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189136123	chrX:68947863-68947864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147908556	chrX:68947875-68947876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374969113	chrX:68947978-68947979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Mental retardation	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
Astrocytoma	22246337	CNVD
Myxofibrosarcoma	16751306	CNVD
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Lujan-Fryns syndrom	21572526	CNVD
Opitz-Kaveggia syndrome	21572526	CNVD
Cerebellar atrophy	21569638	CNVD
X-linked sideroblastic anemia	21569638	CNVD
Mental retardation	21572526	CNVD
ATR-X Syndrome	22470819	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:68940600-68963200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chrX:68945800-68947000	Enhancers	Fetal Heart	heart
3	chrX:68963000-68963200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chrX:68963200-68964200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrX:68964200-68966600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chrX:68966600-68967000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:68967000-68973200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chrX:68973200-68975600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:68975600-68976600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chrX:68976600-68979800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chrX:68979000-68979400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chrX:68979200-68980000	Enhancers	Fetal Heart	heart
13	chrX:68979200-68981000	Enhancers	Brain Anterior Caudate	brain
14	chrX:68979400-68979600	Enhancers	Brain Hippocampus Middle	brain
15	chrX:68979400-68979600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chrX:68979400-68981000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chrX:68979600-68979800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chrX:68979600-68980000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chrX:68979600-68980600	Enhancers	Brain Cingulate Gyrus	brain
20	chrX:68979800-68989800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chrX:68980000-68980600	Enhancers	Brain Hippocampus Middle	brain
22	chrX:68980000-68981000	Weak transcription	Fetal Heart	heart
23	chrX:68980600-68980800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chrX:68981000-68982000	Enhancers	Fetal Heart	heart
25	chrX:68989800-68990200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chrX:68990200-69015400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chrX:69013600-69014000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chrX:69015400-69017000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chrX:69015800-69016000	Bivalent Enhancer	Lung	lung
30	chrX:69017000-69033800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chrX:69027000-69027600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chrX:69032800-69033200	Enhancers	Psoas Muscle	Psoas
33	chrX:69033400-69035000	Weak transcription	Fetal Intestine Small	intestine
34	chrX:69033600-69034800	Weak transcription	Fetal Intestine Large	intestine
35	chrX:69033800-69036600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chrX:69034400-69034800	Enhancers	Fetal Muscle Leg	muscle
37	chrX:69034600-69035800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chrX:69034800-69035000	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chrX:69034800-69035200	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chrX:69035000-69035200	Strong transcription	Fetal Intestine Small	intestine
41	chrX:69035000-69035600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chrX:69035200-69035400	Weak transcription	Fetal Intestine Small	intestine
43	chrX:69035400-69035800	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chrX:69035600-69035800	Enhancers	Fetal Muscle Trunk	muscle
45	chrX:69036600-69037600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chrX:69037600-69037800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chrX:69048200-69065400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chrX:69057000-69057200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chrX:69057200-69062400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chrX:69060600-69060800	Enhancers	Fetal Muscle Leg	muscle

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