Variant report

Variant	esv3425534
Chromosome Location	chrX:103844356-103888961
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:103885200..103888414-chrX:103889374..103892009,3	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192656320	chrX:103844363-103844364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35769134	chrX:103844373-103844374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184943340	chrX:103844376-103844377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189873303	chrX:103844415-103844416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192102331	chrX:103844586-103844587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184543926	chrX:103844676-103844677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189277092	chrX:103844731-103844732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142608597	chrX:103844753-103844754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34360237	chrX:103844840-103844841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182021000	chrX:103844862-103844863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185030706	chrX:103844903-103844904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556752168	chrX:103845198-103845199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534226166	chrX:103845336-103845337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189530353	chrX:103845344-103845345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5917104	chrX:103845360-103845361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181186188	chrX:103845385-103845386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36072388	chrX:103845484-103845485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186574117	chrX:103845653-103845654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191423912	chrX:103845801-103845802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183012136	chrX:103845822-103845823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186279600	chrX:103846393-103846394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59305787	chrX:103846401-103846402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375657183	chrX:103846510-103846511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190948133	chrX:103846631-103846632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183521582	chrX:103846688-103846689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73521400	chrX:103846778-103846779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192757057	chrX:103846782-103846783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182780525	chrX:103846809-103846810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188292923	chrX:103846870-103846871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191841271	chrX:103846891-103846892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147761252	chrX:103847009-103847010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184311161	chrX:103847029-103847030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6523787	chrX:103847161-103847162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189035807	chrX:103847228-103847229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192371529	chrX:103847301-103847302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35600770	chrX:103847505-103847506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5916808	chrX:103847638-103847639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138317743	chrX:103847695-103847696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149621223	chrX:103847790-103847791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371234464	chrX:103855811-103855812	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs181444208	chrX:103855845-103855846	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs139527751	chrX:103855901-103855902	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs185185161	chrX:103856001-103856002	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs149881924	chrX:103856029-103856030	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs190112632	chrX:103856119-103856120	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs189234314	chrX:103861400-103861401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143315265	chrX:103861492-103861493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181179191	chrX:103861501-103861502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6616542	chrX:103861529-103861530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75904372	chrX:103861544-103861545	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	21509527	CNVD
Multiple myeloma	17550852	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Pelizaeus-Merzbacher disease	18923514	CNVD
Pelizaeus-Merzbacher disease	22241247	CNVD
Cervical cancer	21062161	CNVD
Myxofibrosarcoma	16751306	CNVD
Pelizaeus-Merzbacher disease	22470819	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:103843400-103847000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chrX:103843400-103847000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chrX:103843800-103846600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chrX:103846600-103847600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chrX:103847000-103847200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chrX:103847000-103847800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:103855800-103856200	Bivalent Enhancer	Lung	lung
8	chrX:103861400-103861800	Enhancers	HMEC	breast
9	chrX:103861800-103862200	Weak transcription	HMEC	breast
10	chrX:103862200-103864800	Enhancers	HMEC	breast
11	chrX:103862400-103863000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chrX:103862400-103864200	Enhancers	NHEK	skin
13	chrX:103862600-103864200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chrX:103862600-103864400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chrX:103862800-103863200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chrX:103863000-103863400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chrX:103863400-103863600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chrX:103863400-103864200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chrX:103864200-103866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chrX:103864200-103866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chrX:103864200-103866000	Weak transcription	NHEK	skin
22	chrX:103864400-103866000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chrX:103864800-103866000	Weak transcription	HMEC	breast
24	chrX:103866000-103866400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chrX:103866000-103866600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chrX:103866000-103867000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chrX:103866000-103867000	Enhancers	HMEC	breast
28	chrX:103866000-103867400	Enhancers	NHEK	skin

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