Variant report

Variant	esv3354641
Chromosome Location	chrX:74603980-74643202
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	CTCF	chrX:74638693-74638768	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chrX:74612852-74612937	GM20000	blood:	n/a	n/a
3	CTCF	chrX:74604295-74604318	GM10266	blood:	n/a	n/a
4	CTCF	chrX:74616143-74616257	GM20000	blood:	n/a	n/a
5	CTCF	chrX:74614296-74614408	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chrX:74616961-74616989	ProgFib	skin:	n/a	n/a
7	CTCF	chrX:74626447-74626519	GM10266	blood:	n/a	n/a
8	CTCF	chrX:74612850-74612904	Medullo	brain:	n/a	n/a
9	CTCF	chrX:74641540-74641690	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chrX:74606400-74606433	LNCaP	prostate:	n/a	n/a
11	CTCF	chrX:74613146-74613205	GM13976	blood:	n/a	n/a
12	CTCF	chrX:74619530-74619619	ProgFib	skin:	n/a	n/a
13	E2F4	chrX:74626316-74626503	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA2	chrX:74627492-74628036	A549	lung:	n/a	n/a
15	KAP1	chrX:74607665-74608059	HEK293	kidney:	n/a	n/a
16	MAFK	chrX:74641785-74642055	HepG2	liver:	n/a	n/a
17	MAZ	chrX:74641752-74641794	GM12878	blood:	n/a	n/a
18	MYC	chrX:74618723-74618778	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chrX:74620825-74620981	GM12878	blood:	n/a	n/a
20	MYC	chrX:74608762-74608858	HUVEC	blood vessel:	n/a	n/a
21	NR2F2	chrX:74627695-74628016	K562	blood:	n/a	n/a
22	NR2F2	chrX:74627680-74627980	K562	blood:	n/a	n/a
23	NRF1	chrX:74636778-74636804	GM12878	blood:	n/a	n/a
24	POLR2A	chrX:74606230-74606429	ProgFib	skin:	n/a	n/a
25	POLR2A	chrX:74633946-74634146	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chrX:74613822-74613833	ProgFib	skin:	n/a	n/a
27	POLR2A	chrX:74604908-74605040	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chrX:74609149-74609219	A549	lung:	n/a	n/a
29	POLR2A	chrX:74622687-74622711	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chrX:74625301-74625332	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chrX:74630401-74630439	ProgFib	skin:	n/a	n/a
32	POLR2A	chrX:74637773-74637944	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chrX:74608133-74608288	MCF10A-Er-Src	breast:	n/a	n/a
34	RFX5	chrX:74625446-74625633	K562	blood:	n/a	n/a
35	SETDB1	chrX:74607636-74608108	U2OS	brain:	n/a	n/a
36	SPI1	chrX:74617923-74618087	K562	blood:	n/a	n/a
37	STAT3	chrX:74625787-74626005	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chrX:74634187-74634230	MCF10A-Er-Src	breast:	n/a	n/a
39	WRNIP1	chrX:74617868-74617896	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RPL21P134	TF binding region

Extended variants
information (count: 625 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:625 , 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	rs190623921	chrX:74604075-74604076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182882613	chrX:74604157-74604158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372449270	chrX:74604212-74604213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188150775	chrX:74604219-74604220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191240787	chrX:74604267-74604268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149944011	chrX:74604304-74604305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145994023	chrX:74604504-74604505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372495482	chrX:74604672-74604673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182641316	chrX:74604711-74604712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200113912	chrX:74604726-74604727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186974821	chrX:74604801-74604802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200644877	chrX:74604882-74604883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192494010	chrX:74605082-74605083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185048646	chrX:74605269-74605270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187447465	chrX:74605281-74605282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139644826	chrX:74605299-74605300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192054001	chrX:74605442-74605443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185242916	chrX:74605443-74605444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144314720	chrX:74605517-74605518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189694170	chrX:74605521-74605522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78910278	chrX:74605527-74605528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2224753	chrX:74605732-74605733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181296505	chrX:74605751-74605752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148719089	chrX:74605778-74605779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184449874	chrX:74605857-74605858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188302674	chrX:74605938-74605939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181826645	chrX:74605986-74605987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2146768	chrX:74606020-74606021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115660058	chrX:74606022-74606023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186374650	chrX:74606155-74606156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190973025	chrX:74606209-74606210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181650107	chrX:74606222-74606223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186792350	chrX:74606277-74606278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191236021	chrX:74606279-74606280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183179616	chrX:74606293-74606294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111632672	chrX:74606337-74606338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534461384	chrX:74606344-74606345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2209048	chrX:74606464-74606465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147723466	chrX:74606571-74606572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186732925	chrX:74606641-74606642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189965029	chrX:74606645-74606646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182374130	chrX:74606704-74606705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73220078	chrX:74606751-74606752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145893137	chrX:74606831-74606832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77529282	chrX:74607142-74607143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76134581	chrX:74607203-74607204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143433539	chrX:74607377-74607378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187765529	chrX:74607716-74607717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193110003	chrX:74607805-74607806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148072238	chrX:74607840-74607841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
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
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	21611746	CNVD
Breast cancer	21364760	CNVD
Premature ovarian failure	20952765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74601600-74608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chrX:74602400-74606800	Weak transcription	Fetal Kidney	kidney
3	chrX:74607200-74607800	Weak transcription	Fetal Kidney	kidney
4	chrX:74608400-74610000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chrX:74608600-74609200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chrX:74609000-74615600	Weak transcription	Fetal Kidney	kidney
7	chrX:74609200-74611400	Weak transcription	Ovary	ovary
8	chrX:74610000-74617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chrX:74613600-74614400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chrX:74615600-74617400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chrX:74615800-74621400	Weak transcription	Fetal Lung	lung
12	chrX:74616600-74619200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chrX:74617200-74631200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chrX:74617400-74619400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chrX:74617600-74618000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chrX:74617600-74618800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chrX:74617800-74619600	ZNF genes & repeats	Fetal Stomach	stomach
18	chrX:74618000-74618600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chrX:74618200-74618400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chrX:74618600-74619800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chrX:74619200-74619400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chrX:74619400-74622000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chrX:74619800-74620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chrX:74620600-74621400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chrX:74621200-74622000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chrX:74621400-74622200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chrX:74622200-74624000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chrX:74622600-74622800	ZNF genes & repeats	Ovary	ovary
29	chrX:74622800-74636800	Weak transcription	Ovary	ovary
30	chrX:74624000-74624800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chrX:74624800-74628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chrX:74624800-74639000	Weak transcription	Brain Germinal Matrix	brain
33	chrX:74628200-74630000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chrX:74629000-74629200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chrX:74629000-74629200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chrX:74629200-74636600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chrX:74629200-74641400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chrX:74629200-74652400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chrX:74630000-74642000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chrX:74630800-74631200	ZNF genes & repeats	Fetal Lung	lung
41	chrX:74631200-74643600	Weak transcription	Fetal Lung	lung
42	chrX:74634200-74647800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chrX:74634800-74644200	Weak transcription	Fetal Brain Female	brain
44	chrX:74636200-74637000	Weak transcription	Fetal Kidney	kidney
45	chrX:74636600-74637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chrX:74636800-74637800	Strong transcription	Ovary	ovary
47	chrX:74637200-74651000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chrX:74637800-74643600	Weak transcription	Ovary	ovary
49	chrX:74641400-74642000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chrX:74641600-74642200	Weak transcription	Primary hematopoietic stem cells	blood

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