Variant report

Variant	esv3429041
Chromosome Location	chrX:74693577-74695775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 44 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566748995	chrX:74693993-74693994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs190123579	chrX:74694007-74694008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149114597	chrX:74694015-74694016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182169871	chrX:74694026-74694027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5937387	chrX:74694038-74694039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6647132	chrX:74694044-74694045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372625758	chrX:74694089-74694090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533863065	chrX:74694103-74694104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187710770	chrX:74694111-74694112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5937388	chrX:74694186-74694187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140265840	chrX:74694257-74694258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201272364	chrX:74694282-74694283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72630743	chrX:74694283-74694284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144491542	chrX:74694285-74694286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112795812	chrX:74694287-74694288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193231351	chrX:74694303-74694304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34287731	chrX:74694305-74694306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397895539	chrX:74694307-74694308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200654835	chrX:74694351-74694352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115991754	chrX:74694359-74694360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12385600	chrX:74694376-74694377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11093532	chrX:74694378-74694379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200793794	chrX:74694382-74694383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552412680	chrX:74694383-74694384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58408859	chrX:74694393-74694394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375925139	chrX:74694408-74694409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373671284	chrX:74694409-74694410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558414183	chrX:74694614-74694615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12381560	chrX:74694615-74694616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370065666	chrX:74694620-74694621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375578336	chrX:74694650-74694651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184538088	chrX:74694658-74694659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60769791	chrX:74694755-74694756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191923240	chrX:74694756-74694757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371214668	chrX:74694811-74694812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184419513	chrX:74694819-74694820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374274345	chrX:74694851-74694852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189296465	chrX:74694854-74694855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180990574	chrX:74694858-74694859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371974055	chrX:74694889-74694890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375127318	chrX:74695092-74695093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201152772	chrX:74695138-74695139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35679433	chrX:74695161-74695162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187054227	chrX:74695220-74695221	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12839727	chrX:74695257-74695258	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189364187	chrX:74695430-74695431	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181377923	chrX:74695452-74695453	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556379366	chrX:74695546-74695547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186018154	chrX:74695651-74695652	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190040962	chrX:74695719-74695720	Weak transcription ZNF genes & repeats Strong 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	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74667400-74701400	Weak transcription	Aorta	Aorta
2	chrX:74688400-74697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chrX:74689400-74695400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chrX:74690600-74694200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chrX:74691000-74697400	Weak transcription	Primary hematopoietic stem cells	blood
6	chrX:74691400-74695200	Weak transcription	Dnd41	blood
7	chrX:74691600-74699800	Weak transcription	Left Ventricle	heart
8	chrX:74692600-74694200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chrX:74692800-74693600	ZNF genes & repeats	Fetal Brain Male	brain
10	chrX:74692800-74694000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chrX:74692800-74694200	ZNF genes & repeats	Fetal Kidney	kidney
12	chrX:74692800-74694200	ZNF genes & repeats	Fetal Lung	lung
13	chrX:74693200-74693600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chrX:74693400-74695000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:74693400-74706600	Weak transcription	Ovary	ovary
16	chrX:74693600-74696000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chrX:74694000-74694200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chrX:74694200-74695200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chrX:74694200-74695200	Weak transcription	Fetal Kidney	kidney
20	chrX:74694200-74696800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chrX:74695000-74695400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chrX:74695000-74696800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chrX:74695200-74695400	ZNF genes & repeats	Fetal Kidney	kidney
24	chrX:74695200-74695600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chrX:74695200-74695800	Strong transcription	Dnd41	blood
26	chrX:74695400-74696000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chrX:74695600-74697000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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