Variant report

Variant	esv3427453
Chromosome Location	chrX:91366846-91369844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrX:91369430-91369474	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chrX:91369166-91369283	Medullo	brain:	n/a	n/a
3	CTCF	chrX:91368304-91368439	GM20000	blood:	n/a	n/a
4	CTCF	chrX:91369280-91369430	GM12867	blood:	n/a	n/a
5	CTCF	chrX:91369302-91369440	T-47D	breast:	n/a	n/a
6	HEY1	chrX:91368113-91369479	K562	blood:	n/a	n/a
7	PAX5	chrX:91368139-91368285	GM12878	blood:	n/a	n/a
8	POLR2A	chrX:91368012-91369441	GM12892	blood:	n/a	n/a
9	POLR2A	chrX:91368947-91369050	GM12878	blood:	n/a	n/a
10	POLR2A	chrX:91368419-91368667	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chrX:91368959-91369024	A549	lung:	n/a	n/a
12	POLR2A	chrX:91367244-91367413	ProgFib	skin:	n/a	n/a
13	POLR2A	chrX:91368143-91369060	GM12891	blood:	n/a	n/a
14	POLR2A	chrX:91368685-91369154	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chrX:91368016-91368322	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chrX:91369079-91369425	K562	blood:	n/a	n/a
17	POLR2A	chrX:91368628-91368671	GM12878	blood:	n/a	n/a
18	POLR2A	chrX:91368104-91369488	GM12891	blood:	n/a	n/a
19	POLR2A	chrX:91369218-91369443	GM12878	blood:	n/a	n/a
20	POLR2A	chrX:91368569-91368850	PFSK-1	brain:	n/a	n/a
21	POLR2A	chrX:91368088-91369486	GM12891	blood:	n/a	n/a
22	POLR2A	chrX:91367962-91369548	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chrX:91368151-91368996	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chrX:91368887-91369095	GM12878	blood:	n/a	n/a
25	POLR2A	chrX:91369299-91369365	MCF-7	breast:	n/a	n/a
26	POLR2A	chrX:91368472-91368759	HepG2	liver:	n/a	n/a
27	POLR2A	chrX:91368519-91368525	MCF-7	breast:	n/a	n/a
28	POLR2A	chrX:91368103-91369479	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chrX:91368004-91369504	GM12892	blood:	n/a	n/a
30	POLR2A	chrX:91368763-91368920	HepG2	liver:	n/a	n/a
31	POLR2A	chrX:91368511-91368517	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chrX:91368942-91369047	HepG2	liver:	n/a	n/a
33	POLR2A	chrX:91368103-91369472	GM12878	blood:	n/a	n/a
34	POLR2A	chrX:91369471-91369532	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chrX:91369119-91369287	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chrX:91368432-91368517	K562	blood:	n/a	n/a
37	POLR2A	chrX:91368897-91369019	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chrX:91368584-91368673	MCF-7	breast:	n/a	n/a
39	POLR2A	chrX:91368109-91369139	GM12892	blood:	n/a	n/a
40	POLR2A	chrX:91368409-91368755	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chrX:91369047-91369173	MCF-7	breast:	n/a	n/a
42	POLR2A	chrX:91369659-91369723	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chrX:91368024-91369477	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chrX:91369031-91369118	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chrX:91369280-91369393	A549	lung:	n/a	n/a
46	POLR2A	chrX:91368114-91369451	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chrX:91368160-91368324	MCF-7	breast:	n/a	n/a
48	POLR2A	chrX:91368110-91369136	GM12891	blood:	n/a	n/a
49	POLR2A	chrX:91368108-91369462	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chrX:91368538-91368671	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
EIF4A1P10	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6618862	chrX:91366856-91366857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6618863	chrX:91366972-91366973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs5984150	chrX:91367035-91367036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs5984883	chrX:91367047-91367048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5984884	chrX:91367072-91367073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs36012016	chrX:91367202-91367203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5984885	chrX:91367206-91367207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35143475	chrX:91367227-91367228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36038212	chrX:91367236-91367237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34994022	chrX:91367302-91367303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189928376	chrX:91367303-91367304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576393417	chrX:91367331-91367332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5984886	chrX:91367352-91367353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181238268	chrX:91367433-91367434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35999678	chrX:91367434-91367435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184952765	chrX:91367598-91367599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189813151	chrX:91367656-91367657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548754781	chrX:91367687-91367688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567358193	chrX:91367740-91367741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183799403	chrX:91367818-91367819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201537730	chrX:91367851-91367852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200413962	chrX:91367853-91367854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28391015	chrX:91367872-91367873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34183592	chrX:91367901-91367902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189212143	chrX:91367927-91367928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6618865	chrX:91367930-91367931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35675565	chrX:91367974-91367975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2760003	chrX:91367995-91367996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375142895	chrX:91367996-91367997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528140533	chrX:91368035-91368036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199684013	chrX:91368103-91368104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191559958	chrX:91368105-91368106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34972097	chrX:91368109-91368110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35640165	chrX:91368194-91368195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183470794	chrX:91368199-91368200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140357043	chrX:91368205-91368206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35519337	chrX:91368226-91368227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35745987	chrX:91368295-91368296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539697907	chrX:91368301-91368302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35836348	chrX:91368307-91368308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35080919	chrX:91368352-91368353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188410496	chrX:91368356-91368357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35689091	chrX:91368367-91368368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561702035	chrX:91368376-91368377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191662228	chrX:91368391-91368392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35677146	chrX:91368477-91368478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35221441	chrX:91368505-91368506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35770037	chrX:91368517-91368518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34647775	chrX:91368529-91368530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184257217	chrX:91368585-91368586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	20877625	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:91360600-91373200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chrX:91362400-91373000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chrX:91363600-91376400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chrX:91364800-91368600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chrX:91365000-91367400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chrX:91365800-91367200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chrX:91366000-91369000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chrX:91366000-91372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chrX:91366600-91368400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chrX:91367200-91374200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chrX:91368400-91369200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chrX:91368600-91369400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chrX:91369200-91388600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chrX:91369400-91369600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chrX:91369600-91372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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