Variant report

Variant	esv3435339
Chromosome Location	chrX:91427773-91539017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9855045..9855826-chrX:91519740..91520548,2	MCF-7	breast:
2	chr3:35446947..35447534-chrX:91467188..91467880,2	MCF-7	breast:
3	chrX:91499241..91501193-chrX:91506650..91509117,2	K562	blood:
4	chrX:91499241..91501193-chrX:91506650..91509117,2	K562	blood:

Extended variants
information (count: 1418 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1418 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193242706	chrX:91449854-91449855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6618904	chrX:91450178-91450179	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184453503	chrX:91450351-91450352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370552433	chrX:91450368-91450369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73526506	chrX:91450528-91450529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370750918	chrX:91450565-91450566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140845624	chrX:91450614-91450615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187292929	chrX:91450632-91450633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191760844	chrX:91450707-91450708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183849132	chrX:91450715-91450716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6615340	chrX:91450768-91450769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189485243	chrX:91450939-91450940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527930050	chrX:91451023-91451024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180676682	chrX:91451043-91451044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75531606	chrX:91451082-91451083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184442825	chrX:91451131-91451132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190531189	chrX:91451209-91451210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181868575	chrX:91451428-91451429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59569107	chrX:91451523-91451524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186189169	chrX:91451536-91451537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374592794	chrX:91451679-91451680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17274218	chrX:91451731-91451732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190503495	chrX:91451816-91451817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4606233	chrX:91451875-91451876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6618905	chrX:91451915-91451916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552855503	chrX:91451995-91451996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181309075	chrX:91452008-91452009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201059657	chrX:91452272-91452273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376449494	chrX:91452277-91452278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549871988	chrX:91452311-91452312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186168886	chrX:91452347-91452348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55995324	chrX:91452598-91452599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57062035	chrX:91452851-91452852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5942150	chrX:91452896-91452897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191415165	chrX:91452940-91452941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112834934	chrX:91452963-91452964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5942151	chrX:91453026-91453027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35412454	chrX:91453155-91453156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187802236	chrX:91453158-91453159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375499882	chrX:91453204-91453205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372456862	chrX:91453231-91453232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147040653	chrX:91453238-91453239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78596768	chrX:91453266-91453267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183143691	chrX:91453283-91453284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141502641	chrX:91453291-91453292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6618906	chrX:91453333-91453334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148083122	chrX:91453433-91453434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570676739	chrX:91453452-91453453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5984906	chrX:91453535-91453536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187422606	chrX:91453765-91453766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:91449800-91450000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chrX:91449800-91450200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:91450000-91461600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chrX:91456200-91458600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chrX:91458400-91459000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chrX:91458400-91459000	Enhancers	Hela-S3	cervix
7	chrX:91458400-91459800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chrX:91458600-91459200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chrX:91458800-91459600	Enhancers	H9 Cell Line	embryonic stem cell
10	chrX:91458800-91464000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chrX:91459000-91463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chrX:91459800-91464800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chrX:91463800-91465000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chrX:91464000-91464800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chrX:91464800-91465200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chrX:91464800-91467800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chrX:91464800-91469000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chrX:91465000-91465800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chrX:91465200-91465800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chrX:91465800-91466000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chrX:91465800-91466600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chrX:91466000-91468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chrX:91466600-91467000	Enhancers	Hela-S3	cervix
24	chrX:91466600-91467800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chrX:91467000-91468400	Weak transcription	Hela-S3	cervix
26	chrX:91467800-91470000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chrX:91467800-91471000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chrX:91468200-91469600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chrX:91468200-91470200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chrX:91468400-91469800	Enhancers	Hela-S3	cervix
31	chrX:91468600-91469800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chrX:91469000-91470000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chrX:91469000-91470000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chrX:91469000-91470200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chrX:91470200-91481200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chrX:91471000-91481000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chrX:91477600-91477800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chrX:91478000-91480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chrX:91479800-91480600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chrX:91480400-91481000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chrX:91480600-91481600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chrX:91480600-91482200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chrX:91480800-91481000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chrX:91481000-91481800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chrX:91481000-91482200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chrX:91481000-91482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chrX:91481000-91486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chrX:91481200-91482200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chrX:91481600-91482200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chrX:91481600-91482400	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links