Variant report

Variant	esv3347979
Chromosome Location	chrX:153836429-153878781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chrX:153842824-153843144	K562	blood:	n/a	n/a
2	CBX3	chrX:153852224-153852537	K562	blood:	n/a	n/a
3	CBX3	chrX:153852121-153852575	K562	blood:	n/a	n/a
4	CBX3	chrX:153871945-153872379	K562	blood:	n/a	n/a
5	CBX3	chrX:153849260-153849574	K562	blood:	n/a	n/a
6	CBX3	chrX:153842785-153843168	K562	blood:	n/a	n/a
7	CBX3	chrX:153841884-153842166	K562	blood:	n/a	n/a
8	CTCF	chrX:153856088-153856110	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chrX:153841933-153842132	GM19240	blood:	n/a	n/a
10	CTCF	chrX:153863197-153863256	GM13976	blood:	n/a	n/a
11	CTCF	chrX:153850829-153850904	LNCaP	prostate:	n/a	n/a
12	CTCF	chrX:153857167-153857627	K562	blood:	n/a	chrX:153857409-153857427
13	CTCF	chrX:153842520-153842570	HepG2	liver:	n/a	n/a
14	CTCF	chrX:153857318-153857521	Kidney_OC	kidney:	n/a	chrX:153857409-153857427
15	CTCF	chrX:153842249-153842394	A549	lung:	n/a	n/a
16	CTCF	chrX:153872974-153873015	GM10266	blood:	n/a	n/a
17	CTCF	chrX:153862392-153862446	Fibrobl	skin:	n/a	n/a
18	CTCF	chrX:153866169-153866230	GM10266	blood:	n/a	n/a
19	CTCF	chrX:153862023-153862215	MCF-7	breast:	n/a	chrX:153862128-153862137 chrX:153862122-153862140
20	CTCF	chrX:153840463-153840507	GM10266	blood:	n/a	n/a
21	CTCF	chrX:153863536-153863581	GM20000	blood:	n/a	n/a
22	CTCF	chrX:153841999-153842204	GM20000	blood:	n/a	n/a
23	CTCF	chrX:153841929-153842160	MCF-7	breast:	n/a	n/a
24	CTCF	chrX:153841930-153842200	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chrX:153842000-153842169	LNCaP	prostate:	n/a	n/a
26	CTCF	chrX:153876076-153876165	GM13976	blood:	n/a	n/a
27	CTCF	chrX:153841218-153841224	Medullo	brain:	n/a	n/a
28	CTCF	chrX:153849321-153849576	GM12892	blood:	n/a	chrX:153849462-153849478 chrX:153849466-153849474 chrX:153849463-153849484 chrX:153849461-153849479
29	CTCF	chrX:153862043-153862201	MCF-7	breast:	n/a	chrX:153862128-153862137 chrX:153862122-153862140
30	CTCF	chrX:153857285-153857291	GM10248	blood:	n/a	n/a
31	CTCF	chrX:153862049-153862186	Fibrobl	skin:	n/a	chrX:153862128-153862137 chrX:153862122-153862140
32	CTCF	chrX:153867936-153867981	GM20000	blood:	n/a	n/a
33	CTCF	chrX:153862315-153862518	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chrX:153854960-153855063	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chrX:153857294-153857528	GM10266	blood:	n/a	chrX:153857409-153857427
36	CTCF	chrX:153857301-153857506	Lung_OC	lung:	n/a	chrX:153857409-153857427
37	CTCF	chrX:153857245-153857547	Spleen_OC	spleen:	n/a	chrX:153857409-153857427
38	CTCF	chrX:153863274-153863379	GM10248	blood:	n/a	n/a
39	CTCF	chrX:153857294-153857594	LNCaP	prostate:	n/a	chrX:153857409-153857427
40	CTCF	chrX:153872939-153872947	GM10266	blood:	n/a	n/a
41	CTCF	chrX:153843143-153843213	GM10266	blood:	n/a	n/a
42	CTCF	chrX:153857203-153857596	A549	lung:	n/a	chrX:153857409-153857427
43	CTCF	chrX:153857260-153857505	ProgFib	skin:	n/a	chrX:153857409-153857427
44	CTCF	chrX:153857249-153857517	MCF-7	breast:	n/a	chrX:153857409-153857427
45	CTCF	chrX:153857253-153857490	GM12891	blood:	n/a	chrX:153857409-153857427
46	CTCF	chrX:153849361-153849565	Kidney_OC	kidney:	n/a	chrX:153849462-153849478 chrX:153849466-153849474 chrX:153849463-153849484 chrX:153849461-153849479
47	CTCF	chrX:153841928-153842126	GM12891	blood:	n/a	n/a
48	CTCF	chrX:153847582-153847761	GM10266	blood:	n/a	n/a
49	CTCF	chrX:153841942-153842141	Fibrobl	skin:	n/a	n/a
50	CTCF	chrX:153857000-153857178	GM19239	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:153877989..153878508-chrX:153926907..153927860,2	MCF-7	breast:
2	chrX:153647888..153648798-chrX:153877953..153878815,5	MCF-7	breast:
3	chrX:153647888..153648853-chrX:153877953..153878815,7	MCF-7	breast:
4	chrX:153826650..153830451-chrX:153834350..153838569,4	MCF-7	breast:
5	chrX:153833912..153836898-chrX:153977644..153980565,2	K562	blood:
6	chrX:153718876..153719771-chrX:153877675..153878348,2	MCF-7	breast:
7	chrX:153602433..153603353-chrX:153878049..153878762,2	MCF-7	breast:
8	chrX:153877950..153878544-chrX:154216332..154217020,2	MCF-7	breast:
9	chrX:153770673..153771411-chrX:153877763..153878515,2	MCF-7	breast:
10	chr8:102132680..102133483-chrX:153877983..153878973,2	MCF-7	breast:
11	chrX:153769556..153770370-chrX:153878017..153878518,2	MCF-7	breast:
12	chrX:153769248..153770465-chrX:153877772..153878953,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAG1B-1	chrX:153860739-153861448	NR_027402

Variant related genes	Relation type
IKBKGP1	TF binding region
CTAG1B	TF binding region
ENSG00000226141	TF binding region
ATF4P1	TF binding region
ENSG00000102125	chromatin interactions
ENSG00000196924	chromatin interactions
ENSG00000073009	chromatin interactions
ENSG00000126903	chromatin interactions
ENSG00000160219	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377470547	chrX:153836476-153836477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371817919	chrX:153836634-153836635	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374698221	chrX:153836719-153836720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190878703	chrX:153836722-153836723	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368542922	chrX:153836768-153836769	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1059652	chrX:153836863-153836864	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1055817	chrX:153836871-153836872	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141267517	chrX:153836907-153836908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147397822	chrX:153836912-153836913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372647637	chrX:153836974-153836975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182539146	chrX:153836986-153836987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188453755	chrX:153837072-153837073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192645939	chrX:153837077-153837078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367599827	chrX:153837085-153837086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183011585	chrX:153837133-153837134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187264591	chrX:153837145-153837146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375598668	chrX:153837292-153837293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139771275	chrX:153837342-153837343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192600755	chrX:153837512-153837513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143690397	chrX:153837585-153837586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184545863	chrX:153837711-153837712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7064892	chrX:153837904-153837905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188730108	chrX:153837943-153837944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111490128	chrX:153837956-153837957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113769099	chrX:153837962-153837963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369895171	chrX:153838114-153838115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371936062	chrX:153838139-153838140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113073251	chrX:153838178-153838179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72616480	chrX:153838423-153838424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369197200	chrX:153838426-153838427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192803954	chrX:153838593-153838594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113461531	chrX:153838599-153838600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113099463	chrX:153838612-153838613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111537151	chrX:153838621-153838622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74767189	chrX:153838803-153838804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74565173	chrX:153838878-153838879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78266700	chrX:153838884-153838885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189981721	chrX:153838885-153838886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78799854	chrX:153838890-153838891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76128200	chrX:153838891-153838892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79308261	chrX:153838892-153838893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112930873	chrX:153838904-153838905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78546629	chrX:153838906-153838907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76246924	chrX:153838912-153838913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80027443	chrX:153838915-153838916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76305812	chrX:153838929-153838930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76963614	chrX:153838930-153838931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79262771	chrX:153838934-153838935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74659470	chrX:153838942-153838943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372543922	chrX:153838954-153838955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	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 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
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
abnormal development	18461090	CNVD
Multiple myeloma	17550852	CNVD
Premature ovarian failure	20952765	CNVD
Abnormal corpus callosum	21572526	CNVD
Breast cancer	21364760	CNVD
Astrocytoma	22246337	CNVD
Cerebellar atrophy	21569638	CNVD
periventricular nodular heterotopia	21572526	CNVD
Cerebellar hypoplasia	21569638	CNVD
Hoyeraal-Hreidarsson syndrome	21569638	CNVD
Oto-palato-digital type II	21569638	CNVD
incontinentia pigmenti anhidrotic ectodermal dysplasia with immunodeficiency	18350553	CNVD
Aqueductal stenosis	21572526	CNVD
Hirschsprung''s Disease	21712996	CNVD
Vermis hypoplasia	21569638	CNVD
X-linked hydrocephalus	21569638	CNVD
Rett syndrome	21569638	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Epilepsy	20970697	CNVD
Hemophilia A	17823971	CNVD
Rett syndrome	18923514	CNVD
Rett syndrome	22241247	CNVD
Intellectual disability	21984752	CNVD
Mental retardation	19951919	CNVD
Hypotonia	17088400	CNVD
Intellectual disability	22511893	CNVD
Mental retardation	17088400	CNVD
Mental retardation	21119712	CNVD
Neurodevelopmental disorder	19324899	CNVD
Recurrent Infections	17088400	CNVD
Rett syndrome	22283845	CNVD
Rett syndrome	21383316	CNVD
Cryptorchidism	21048976	CNVD
Disorders of sex development	21048976	CNVD
Cervical cancer	21062161	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Hemophilia A	18787571	CNVD
Hunters syndrom	18787571	CNVD
Prader-willi syndrome	20588305	CNVD
Mental retardation	19057379	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
abortions and stillbirths	19751515	CNVD
Hereditary coagulopathy	21993689	CNVD
Intellectual disability	23615299	CNVD
Mental retardation	17621639	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Heart failure	16880705	CNVD
Haemophilia	22138850	CNVD
Incontinentia Pigmenti	22121116	CNVD
Pancreatic cancer	17952125	CNVD
Alcoholism	21790672	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153834600-153838600	Enhancers	Liver	Liver
2	chrX:153835400-153836800	Weak transcription	K562	blood
3	chrX:153836800-153837800	Enhancers	K562	blood
4	chrX:153837600-153837800	Enhancers	HepG2	liver
5	chrX:153838600-153839000	Weak transcription	Liver	Liver
6	chrX:153839000-153839600	Enhancers	Liver	Liver
7	chrX:153839600-153840600	Weak transcription	Liver	Liver
8	chrX:153840600-153841000	Enhancers	Liver	Liver
9	chrX:153877200-153877800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chrX:153877200-153878600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chrX:153877400-153878600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chrX:153877600-153878000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chrX:153877600-153878400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chrX:153877600-153878400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chrX:153877600-153878600	Enhancers	Ovary	ovary
16	chrX:153877600-153878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chrX:153877800-153878600	Bivalent Enhancer	Placenta	Placenta
18	chrX:153878000-153878400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chrX:153878000-153878600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chrX:153878000-153878600	Enhancers	HUVEC	blood vessel
21	chrX:153878000-153879600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chrX:153878200-153878400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chrX:153878200-153878600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chrX:153878200-153878600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
25	chrX:153878400-153878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chrX:153878600-153881200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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