Variant report

Variant	nsv917070
Chromosome Location	chrX:77250619-77294719
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:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:77154804..77156498-chrX:77275417..77277236,2	MCF-7	breast:
2	chrX:75499119..75500013-chrX:77279958..77280736,2	K562	blood:
3	chrX:77165649..77166434-chrX:77279943..77280808,5	MCF-7	breast:
4	chrX:77165450..77167011-chrX:77279937..77280889,12	MCF-7	breast:
5	chrX:77285841..77288705-chrX:77290926..77293069,3	MCF-7	breast:
6	chrX:77164463..77167095-chrX:77284287..77285862,2	MCF-7	breast:
7	chrX:77040121..77042552-chrX:77285390..77286999,2	MCF-7	breast:
8	chr10:11799709..11800460-chrX:77279944..77280508,2	K562	blood:
9	chrX:77262120..77263891-chrX:77267020..77269535,2	K562	blood:
10	chrX:77263570..77265987-chrX:77271725..77274130,2	K562	blood:
11	chrX:77150766..77152768-chrX:77280557..77283082,2	MCF-7	breast:
12	chrX:77285841..77288705-chrX:77290926..77293069,3	MCF-7	breast:
13	chrX:77263570..77265987-chrX:77271725..77274130,2	K562	blood:
14	chrX:77153159..77156073-chrX:77281305..77283544,2	MCF-7	breast:
15	chrX:77165056..77166786-chrX:77252829..77255558,2	K562	blood:
16	chrX:77262120..77263891-chrX:77267020..77269535,2	K562	blood:
17	chrX:77163838..77167539-chrX:77275299..77277613,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGK1-3	chrX:77261614-77261936	expReg_chrX_4933_+
2	lnc-PGK1-2	chrX:77263703-77263995	expReg_chrX_4934_+

No data

Variant related genes	Relation type
ENSG00000131174	chromatin interactions
ENSG00000165240	chromatin interactions
ENSG00000248503	chromatin interactions
ENSG00000085224	chromatin interactions
ENSG00000102158	chromatin interactions

Extended variants
information (count: 553 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202015525	chrX:77250668-77250669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201736830	chrX:77250670-77250671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201585427	chrX:77250672-77250673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5959963	chrX:77250799-77250800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201585016	chrX:77250800-77250801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143673420	chrX:77250804-77250805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185542032	chrX:77250921-77250922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200665987	chrX:77250960-77250961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190785865	chrX:77251204-77251205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369157929	chrX:77251390-77251391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372198945	chrX:77251463-77251464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180797497	chrX:77251530-77251531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7884871	chrX:77251533-77251534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183716164	chrX:77251558-77251559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188428513	chrX:77251708-77251709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181237932	chrX:77251915-77251916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567519017	chrX:77252032-77252033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201007187	chrX:77252278-77252279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185690314	chrX:77252448-77252449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142480879	chrX:77252503-77252504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190497907	chrX:77252548-77252549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145928430	chrX:77252633-77252634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182146430	chrX:77252669-77252670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138783760	chrX:77252707-77252708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142806619	chrX:77252811-77252812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187144055	chrX:77252907-77252908	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113180803	chrX:77253062-77253063	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs138095977	chrX:77253089-77253090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149451923	chrX:77253186-77253187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs377531034	chrX:77253418-77253419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs371399085	chrX:77253490-77253491	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528113921	chrX:77253491-77253492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571388888	chrX:77253648-77253649	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371146030	chrX:77253970-77253971	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147478494	chrX:77254006-77254007	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs140031139	chrX:77254008-77254009	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374530062	chrX:77254013-77254014	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs377355446	chrX:77254015-77254016	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201999500	chrX:77254023-77254024	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs2234934	chrX:77254028-77254029	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373783936	chrX:77254034-77254035	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142919670	chrX:77254053-77254054	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs192424860	chrX:77254101-77254102	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143907597	chrX:77254154-77254155	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367977602	chrX:77254190-77254191	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs370638326	chrX:77254228-77254229	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs3833942	chrX:77254264-77254265	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541435866	chrX:77254265-77254266	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374499840	chrX:77254266-77254267	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112508476	chrX:77254267-77254268	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Acute myeloid leukemia	20729466	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
Breast cancer	21611746	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:77218000-77253800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chrX:77218200-77289000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chrX:77224000-77268200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chrX:77229200-77302200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chrX:77233600-77252200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chrX:77240400-77251200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chrX:77242000-77253600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chrX:77242400-77300600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chrX:77245400-77290800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chrX:77245600-77256400	Weak transcription	Primary T cells from cord blood	blood
11	chrX:77252200-77253200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chrX:77252800-77255200	Weak transcription	Dnd41	blood
13	chrX:77253200-77275200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chrX:77253600-77254200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chrX:77253600-77254400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chrX:77253600-77254400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chrX:77253800-77254000	Enhancers	Spleen	Spleen
18	chrX:77253800-77254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chrX:77253800-77258400	Weak transcription	Fetal Intestine Small	intestine
20	chrX:77254000-77254200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chrX:77254000-77293200	Weak transcription	Spleen	Spleen
22	chrX:77254400-77261200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chrX:77254400-77267600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chrX:77257200-77270000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chrX:77257400-77303200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chrX:77260200-77303600	Weak transcription	Right Ventricle	heart
27	chrX:77261000-77275000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chrX:77261200-77261800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chrX:77261600-77262000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chrX:77261600-77262600	ZNF genes & repeats	Liver	Liver
31	chrX:77261800-77271000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chrX:77262600-77300200	Weak transcription	Liver	Liver
33	chrX:77262800-77279800	Weak transcription	Fetal Lung	lung
34	chrX:77263400-77309800	Weak transcription	Left Ventricle	heart
35	chrX:77264200-77274800	Weak transcription	Fetal Kidney	kidney
36	chrX:77264600-77303800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chrX:77267000-77300400	Weak transcription	Primary hematopoietic stem cells	blood
38	chrX:77267000-77302200	Weak transcription	Primary B cells from cord blood	blood
39	chrX:77267600-77272400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chrX:77268200-77269400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chrX:77269200-77303800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chrX:77269400-77294400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chrX:77269600-77293800	Weak transcription	Primary B cells from peripheral blood	blood
44	chrX:77269600-77301800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chrX:77269800-77272400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chrX:77269800-77280600	Weak transcription	Brain Hippocampus Middle	brain
47	chrX:77270600-77273400	Weak transcription	GM12878-XiMat	blood
48	chrX:77270600-77279800	Weak transcription	Fetal Stomach	stomach
49	chrX:77271000-77271800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chrX:77271000-77274200	Weak transcription	Duodenum Mucosa	Duodenum

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