Variant report

Variant	nsv438136
Chromosome Location	chrX:66238345-66664219
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	BRCA1	chrX:66266745-66266939	GM12878	blood:	n/a	n/a
2	CEBPB	chrX:66510287-66510697	HepG2	liver:	n/a	chrX:66510351-66510364 chrX:66510352-66510363 chrX:66510528-66510539
3	CEBPB	chrX:66387904-66388222	K562	blood:	n/a	chrX:66388060-66388071
4	CEBPB	chrX:66565298-66565671	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chrX:66530195-66530402	IMR90	lung:	n/a	n/a
6	CEBPB	chrX:66566159-66566359	H1-hESC	embryonic stem cell:	n/a	chrX:66566268-66566279
7	CEBPB	chrX:66387932-66388250	A549	lung:	n/a	chrX:66388060-66388071
8	CEBPB	chrX:66567068-66567325	A549	lung:	n/a	chrX:66567225-66567238
9	CEBPB	chrX:66510341-66510659	A549	lung:	n/a	chrX:66510351-66510364 chrX:66510352-66510363 chrX:66510528-66510539
10	CEBPB	chrX:66567059-66567268	IMR90	lung:	n/a	chrX:66567225-66567238
11	CEBPB	chrX:66510306-66510617	IMR90	lung:	n/a	chrX:66510351-66510364 chrX:66510352-66510363 chrX:66510528-66510539
12	CEBPB	chrX:66296595-66296771	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chrX:66387898-66388252	IMR90	lung:	n/a	chrX:66388060-66388071
14	CEBPB	chrX:66387981-66388216	HepG2	liver:	n/a	chrX:66388060-66388071
15	CEBPB	chrX:66246185-66246310	IMR90	lung:	n/a	n/a
16	CEBPB	chrX:66320150-66320394	HepG2	liver:	n/a	n/a
17	CEBPB	chrX:66566108-66567275	HepG2	liver:	n/a	chrX:66567225-66567238 chrX:66566268-66566279
18	CEBPB	chrX:66627019-66627340	HepG2	liver:	n/a	chrX:66627169-66627180
19	CEBPB	chrX:66626995-66627356	IMR90	lung:	n/a	chrX:66627169-66627180
20	CEBPB	chrX:66566097-66566854	IMR90	lung:	n/a	chrX:66566268-66566279
21	CEBPB	chrX:66627061-66627316	Hela-S3	cervix:	n/a	chrX:66627169-66627180
22	CEBPB	chrX:66627016-66627326	A549	lung:	n/a	chrX:66627169-66627180
23	CEBPB	chrX:66387935-66388220	H1-hESC	embryonic stem cell:	n/a	chrX:66388060-66388071
24	CEBPB	chrX:66387995-66388246	Hela-S3	cervix:	n/a	chrX:66388060-66388071
25	CEBPB	chrX:66476977-66477324	IMR90	lung:	n/a	n/a
26	CEBPB	chrX:66627045-66627261	H1-hESC	embryonic stem cell:	n/a	chrX:66627169-66627180
27	CEBPB	chrX:66566547-66566844	MCF-7	breast:	n/a	n/a
28	CEBPB	chrX:66406482-66406682	IMR90	lung:	n/a	n/a
29	CEBPB	chrX:66627033-66627322	K562	blood:	n/a	chrX:66627169-66627180
30	CEBPB	chrX:66566166-66566826	A549	lung:	n/a	chrX:66566268-66566279
31	CEBPB	chrX:66296476-66296789	IMR90	lung:	n/a	n/a
32	CEBPB	chrX:66322764-66322929	IMR90	lung:	n/a	n/a
33	CEBPB	chrX:66566127-66566774	K562	blood:	n/a	chrX:66566268-66566279
34	CHD2	chrX:66313922-66314125	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chrX:66517248-66517319	GM20000	blood:	n/a	n/a
36	CTCF	chrX:66415200-66415233	GM20000	blood:	n/a	n/a
37	CTCF	chrX:66423718-66423789	GM10248	blood:	n/a	n/a
38	CTCF	chrX:66544577-66544648	Lung_OC	lung:	n/a	n/a
39	CTCF	chrX:66392698-66392797	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chrX:66484344-66484398	LNCaP	prostate:	n/a	n/a
41	CTCF	chrX:66420051-66420121	GM20000	blood:	n/a	n/a
42	CTCF	chrX:66619334-66619409	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chrX:66578697-66578746	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chrX:66579663-66579708	GM10266	blood:	n/a	n/a
45	CTCF	chrX:66383337-66383397	Medullo	brain:	n/a	n/a
46	CTCF	chrX:66411970-66412011	A549	lung:	n/a	n/a
47	CTCF	chrX:66566460-66566610	HEK293	kidney:	n/a	n/a
48	CTCF	chrX:66498497-66498559	GM10266	blood:	n/a	n/a
49	CTCF	chrX:66334743-66334777	A549	lung:	n/a	n/a
50	CTCF	chrX:66489392-66489432	Kidney_OC	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AR-2	chrX:66437304-66437355	NONHSAT137362
2	lnc-AR-2	chrX:66440519-66440670	NONHSAT137362

Variant related genes	Relation type
ENSG00000226280	TF binding region

Extended variants
information (count: 1220 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185356577	chrX:66262209-66262210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147366369	chrX:66262215-66262216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577721	chrX:66262221-66262222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112404051	chrX:66262225-66262226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376855115	chrX:66262302-66262303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548892729	chrX:66262340-66262341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61317685	chrX:66262401-66262402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190599163	chrX:66262423-66262424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566894719	chrX:66262509-66262510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141752465	chrX:66262659-66262660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574001	chrX:66262673-66262674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559031572	chrX:66262744-66262745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553514880	chrX:66262781-66262782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572091339	chrX:66262813-66262814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374320824	chrX:66262854-66262855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35565453	chrX:66262876-66262877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180883024	chrX:66262956-66262957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372822098	chrX:66262961-66262962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112919411	chrX:66263070-66263071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570823428	chrX:66263118-66263119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187393674	chrX:66263283-66263284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146549235	chrX:66263396-66263397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192234348	chrX:66263397-66263398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139998533	chrX:66263418-66263419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376326394	chrX:66263454-66263455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs524593	chrX:66263477-66263478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545545059	chrX:66263530-66263531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563858459	chrX:66263556-66263557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182990115	chrX:66263593-66263594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531742808	chrX:66263748-66263749	Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187282033	chrX:66263808-66263809	Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190134449	chrX:66263851-66263852	Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs182368001	chrX:66263967-66263968	Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186988892	chrX:66263998-66263999	Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs192469534	chrX:66264059-66264060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367883354	chrX:66264232-66264233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113413810	chrX:66264255-66264256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543616102	chrX:66264269-66264270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555985512	chrX:66264282-66264283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574281826	chrX:66264347-66264348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369387300	chrX:66264448-66264449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182768043	chrX:66264519-66264520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148951469	chrX:66264560-66264561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188885488	chrX:66264717-66264718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193224653	chrX:66264803-66264804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143780734	chrX:66264906-66264907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562032861	chrX:66264918-66264919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184589535	chrX:66264962-66264963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188915923	chrX:66265066-66265067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560550	chrX:66265140-66265141	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
Acute myeloid leukemia	21251322	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
Astrocytoma	22246337	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Craniofrontonasal syndrome	21572526	CNVD
Cerebellar hypoplasia	21569638	CNVD
Disorders of sex development	21048976	CNVD
Myxofibrosarcoma	16751306	CNVD
Cervical cancer	21062161	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Prostate cancer	21147910	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:66262200-66263600	Enhancers	Liver	Liver
2	chrX:66263600-66264000	Bivalent Enhancer	Adipose Nuclei	Adipose
3	chrX:66263600-66264000	Flanking Active TSS	Liver	Liver
4	chrX:66264000-66266000	Enhancers	Liver	Liver
5	chrX:66266000-66268800	Weak transcription	Liver	Liver
6	chrX:66268800-66272200	Enhancers	Liver	Liver
7	chrX:66313000-66314600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chrX:66313400-66313600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chrX:66313400-66314000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chrX:66313400-66314600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chrX:66313600-66314200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chrX:66313600-66314400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chrX:66313600-66315000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chrX:66314200-66314400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chrX:66314200-66314600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chrX:66314400-66314600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chrX:66314400-66314800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chrX:66318600-66324600	Enhancers	Liver	Liver
19	chrX:66319000-66319800	Enhancers	NHEK	skin
20	chrX:66324600-66324800	Flanking Active TSS	Liver	Liver
21	chrX:66324800-66325000	Enhancers	Liver	Liver
22	chrX:66325000-66325200	Flanking Active TSS	Liver	Liver
23	chrX:66325200-66326400	Enhancers	Liver	Liver
24	chrX:66325800-66326400	Enhancers	Ovary	ovary
25	chrX:66340200-66341000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chrX:66340400-66341000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chrX:66385600-66387600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chrX:66385800-66387400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chrX:66386000-66386800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chrX:66386200-66387000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chrX:66386400-66386600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chrX:66386600-66386800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chrX:66386800-66387400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chrX:66386800-66387600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chrX:66386800-66388000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chrX:66387600-66388000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chrX:66388000-66388200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chrX:66388000-66388400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chrX:66412000-66412400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chrX:66412000-66412400	Enhancers	H1 Cell Line	embryonic stem cell
41	chrX:66412000-66412400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chrX:66426200-66428400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chrX:66427600-66428000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chrX:66427600-66428200	Enhancers	Primary hematopoietic stem cells	blood
45	chrX:66427600-66428400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chrX:66428400-66430600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chrX:66429600-66429800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chrX:66430600-66431000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chrX:66499800-66500200	Enhancers	Liver	Liver
50	chrX:66508600-66509200	Enhancers	Ovary	ovary

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