Variant report

Variant	nsv438150
Chromosome Location	chrX:109635217-109640055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chrX:109633892..109639812-chrX:109645953..109649648,6	MCF-7	breast:
2	chrX:109421031..109422719-chrX:109637799..109640538,2	K562	blood:
3	chrX:109415894..109419327-chrX:109639284..109641304,3	MCF-7	breast:
4	chrX:109637443..109639454-chrX:109642435..109645799,3	K562	blood:
5	chrX:109638358..109640423-chrX:109641072..109643231,2	MCF-7	breast:
6	chrX:109556301..109564965-chrX:109638412..109651371,20	MCF-7	breast:
7	chrX:109639728..109642664-chrX:109644405..109645994,2	K562	blood:
8	chrX:109632843..109635409-chrX:109636308..109639551,3	K562	blood:
9	chrX:109560266..109562217-chrX:109637723..109640288,4	K562	blood:
10	chrX:109632843..109635409-chrX:109636308..109639551,3	K562	blood:
11	chrX:109626748..109629484-chrX:109635802..109638311,2	MCF-7	breast:
12	chrX:109633842..109636110-chrX:109643324..109646183,3	K562	blood:
13	chrX:109638240..109640846-chrX:109647005..109649037,2	K562	blood:
14	chrX:109638040..109640744-chrX:109642591..109644789,3	K562	blood:
15	chrX:109552644..109554445-chrX:109632738..109635319,2	K562	blood:
16	chrX:109640026..109642203-chrX:109643261..109646358,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101935	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2209183	chrX:109635217-109635218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191497944	chrX:109635266-109635267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368564433	chrX:109635416-109635417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377409601	chrX:109635501-109635502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184155686	chrX:109635531-109635532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5942917	chrX:109635532-109635533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2209182	chrX:109635555-109635556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200291348	chrX:109635643-109635644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2224818	chrX:109635688-109635689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5985465	chrX:109635762-109635763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188120065	chrX:109636093-109636094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372338892	chrX:109636152-109636153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576757540	chrX:109636325-109636326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146772330	chrX:109636450-109636451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575449892	chrX:109636529-109636530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147946848	chrX:109636610-109636611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191418813	chrX:109636830-109636831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185612304	chrX:109636859-109636860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190283502	chrX:109636966-109636967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182457478	chrX:109637196-109637197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12387996	chrX:109637212-109637213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12392782	chrX:109637396-109637397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12389230	chrX:109637415-109637416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542703297	chrX:109637419-109637420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370609763	chrX:109637422-109637423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186585147	chrX:109637584-109637585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141675254	chrX:109637621-109637622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34701779	chrX:109637660-109637661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150125159	chrX:109637721-109637722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112425348	chrX:109637731-109637732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs60537533	chrX:109637772-109637773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189077894	chrX:109637809-109637810	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181260792	chrX:109637852-109637853	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185848366	chrX:109637887-109637888	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189772413	chrX:109638023-109638024	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35225178	chrX:109638141-109638142	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35914794	chrX:109638188-109638189	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182681036	chrX:109638303-109638304	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12394312	chrX:109638474-109638475	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113909458	chrX:109638582-109638583	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191840000	chrX:109638627-109638628	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184083572	chrX:109638701-109638702	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374918596	chrX:109638756-109638757	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12389753	chrX:109638792-109638793	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187360402	chrX:109638797-109638798	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs61356387	chrX:109638840-109638841	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192265219	chrX:109638907-109638908	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182477734	chrX:109638926-109638927	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371420888	chrX:109638970-109638971	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142682211	chrX:109639007-109639008	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
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

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109626400-109638000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chrX:109634400-109635800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chrX:109635000-109636000	Weak transcription	K562	blood
4	chrX:109635000-109638200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chrX:109635800-109636400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chrX:109636000-109642200	Enhancers	K562	blood
7	chrX:109636200-109636400	Enhancers	HSMMtube	muscle
8	chrX:109636400-109637800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chrX:109636400-109637800	Weak transcription	HSMMtube	muscle
10	chrX:109636800-109637000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chrX:109636800-109637200	Enhancers	Ovary	ovary
12	chrX:109637200-109637600	Weak transcription	Ovary	ovary
13	chrX:109637200-109638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chrX:109637400-109637600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chrX:109637400-109639200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chrX:109637600-109638200	Enhancers	Ovary	ovary
17	chrX:109637600-109638400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chrX:109637600-109642000	Enhancers	HMEC	breast
19	chrX:109637800-109638400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chrX:109637800-109638400	Enhancers	NHEK	skin
21	chrX:109637800-109639000	Enhancers	Placenta	Placenta
22	chrX:109637800-109639200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chrX:109637800-109640000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chrX:109637800-109640200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chrX:109637800-109640600	Enhancers	Muscle Satellite Cultured Cells	--
26	chrX:109637800-109640600	Enhancers	HSMMtube	muscle
27	chrX:109637800-109641400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chrX:109637800-109641400	Enhancers	NHDF-Ad	bronchial
29	chrX:109637800-109641600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chrX:109637800-109641600	Enhancers	HSMM	muscle
31	chrX:109637800-109641800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chrX:109638000-109638800	Enhancers	NH-A	brain
33	chrX:109638000-109639200	Enhancers	Placenta Amnion	Placenta Amnion
34	chrX:109638000-109639200	Enhancers	NHLF	lung
35	chrX:109638000-109639800	Enhancers	Osteobl	bone
36	chrX:109638000-109640600	Enhancers	Fetal Intestine Large	intestine
37	chrX:109638000-109640800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chrX:109638000-109641400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chrX:109638000-109641400	Enhancers	Hela-S3	cervix
40	chrX:109638200-109638600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chrX:109638200-109641800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chrX:109638400-109639200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chrX:109638400-109639800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chrX:109638400-109640000	Bivalent Enhancer	NHEK	skin
45	chrX:109638400-109643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chrX:109639000-109641400	Enhancers	Esophagus	oesophagus
47	chrX:109639200-109639800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chrX:109639200-109640200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chrX:109639200-109640800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chrX:109639800-109640200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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