Variant report

Variant	esv3450878
Chromosome Location	chrX:56167980-56248516
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	chr8:116679637..116681502-chrX:56217108..56219174,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353698.1-1	chrX:56231406-56231479	XLOC_007992
2	lnc-AL353698.1-1	chrX:56231406-56231526	NONHSAT137261
3	lnc-AL353698.1-1	chrX:56178906-56179017	NONHSAT137261

Variant related genes	Relation type
ENSG00000104447	chromatin interactions
ALDH4A1	miRNA target sites

Extended variants
information (count: 375 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189377580	chrX:56178913-56178914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs181473025	chrX:56178934-56178935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs185812049	chrX:56179000-56179001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs184336942	chrX:56196236-56196237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189448856	chrX:56196279-56196280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372520199	chrX:56196350-56196351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62611582	chrX:56196387-56196388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534373845	chrX:56196395-56196396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181414965	chrX:56196560-56196561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149294149	chrX:56196723-56196724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185904775	chrX:56196732-56196733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4363327	chrX:56196745-56196746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189576703	chrX:56196756-56196757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144564147	chrX:56196765-56196766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186047929	chrX:56203608-56203609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370181912	chrX:56203638-56203639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373393194	chrX:56203660-56203661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192150726	chrX:56203702-56203703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184042280	chrX:56203704-56203705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186080144	chrX:56203731-56203732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190795965	chrX:56203783-56203784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544408168	chrX:56203784-56203785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183061954	chrX:56203793-56203794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186989859	chrX:56203794-56203795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192744225	chrX:56203828-56203829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138572551	chrX:56203870-56203871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568017703	chrX:56203929-56203930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141605681	chrX:56203953-56203954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182663717	chrX:56203975-56203976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367952330	chrX:56203977-56203978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535123816	chrX:56203985-56203986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150749119	chrX:56204222-56204223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4520302	chrX:56204251-56204252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184878175	chrX:56204343-56204344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188913158	chrX:56204350-56204351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572797470	chrX:56209052-56209053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191273239	chrX:56209103-56209104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184496727	chrX:56209147-56209148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368434390	chrX:56209157-56209158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190285432	chrX:56209162-56209163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142260477	chrX:56209194-56209195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193271548	chrX:56209204-56209205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5914583	chrX:56209210-56209211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185110366	chrX:56209233-56209234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146778532	chrX:56209480-56209481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189048341	chrX:56209481-56209482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181194975	chrX:56209502-56209503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185635089	chrX:56209503-56209504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372454298	chrX:56209538-56209539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188553637	chrX:56209539-56209540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	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
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD
Mental retardation	21735175	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56196200-56196600	Enhancers	Primary B cells from peripheral blood	blood
2	chrX:56196400-56196800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chrX:56203600-56204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chrX:56203800-56204000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chrX:56204200-56204400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chrX:56209000-56211200	Weak transcription	Gastric	stomach
7	chrX:56210400-56210600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chrX:56231800-56234400	Weak transcription	Ovary	ovary
9	chrX:56232000-56233600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chrX:56232200-56233000	Weak transcription	Brain Germinal Matrix	brain
11	chrX:56233000-56233600	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chrX:56233000-56233600	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chrX:56233000-56233600	ZNF genes & repeats	Fetal Lung	lung
14	chrX:56233600-56244200	Weak transcription	Brain Germinal Matrix	brain
15	chrX:56246600-56246800	Enhancers	H1 Cell Line	embryonic stem cell
16	chrX:56246800-56257600	Weak transcription	H1 Cell Line	embryonic stem cell

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