Variant report

Variant	nsv916918
Chromosome Location	chrX:79966539-79989648
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	CEBPB	chrX:79971765-79972063	HepG2	liver:	n/a	chrX:79971899-79971910
2	CEBPB	chrX:79985983-79986225	IMR90	lung:	n/a	n/a
3	CEBPB	chrX:79971787-79972130	A549	lung:	n/a	chrX:79971899-79971910
4	CEBPB	chrX:79971816-79972070	K562	blood:	n/a	chrX:79971899-79971910
5	CEBPB	chrX:79971775-79972084	IMR90	lung:	n/a	chrX:79971899-79971910
6	CTCF	chrX:79983883-79983959	GM10266	blood:	n/a	n/a
7	CTCF	chrX:79975819-79975845	GM10248	blood:	n/a	n/a
8	CTCF	chrX:79980522-79980552	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chrX:79976903-79976992	GM20000	blood:	n/a	n/a
10	E2F4	chrX:79985960-79986160	MCF10A-Er-Src	breast:	n/a	n/a
11	ELK1	chrX:79975788-79975817	Hela-S3	cervix:	n/a	n/a
12	ELK1	chrX:79987969-79987986	Hela-S3	cervix:	n/a	n/a
13	FOS	chrX:79974086-79974352	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chrX:79974050-79974357	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chrX:79974045-79974345	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA3	chrX:79970441-79970940	SK-N-SH	brain:	n/a	chrX:79970692-79970701
17	GATA3	chrX:79980745-79980945	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chrX:79979181-79979258	SH-SY5Y	brain:	n/a	n/a
19	IRF1	chrX:79971964-79972019	K562	blood:	n/a	n/a
20	JUN	chrX:79976780-79977031	HepG2	liver:	n/a	chrX:79976873-79976886 chrX:79976874-79976883
21	JUND	chrX:79976715-79977032	HepG2	liver:	n/a	chrX:79976874-79976883
22	MXI1	chrX:79972512-79972569	GM12878	blood:	n/a	n/a
23	MYC	chrX:79973031-79973209	MCF10A-Er-Src	breast:	n/a	n/a
24	NR2F2	chrX:79968694-79969226	K562	blood:	n/a	n/a
25	NR2F2	chrX:79968767-79969044	K562	blood:	n/a	n/a
26	PAX5	chrX:79967662-79967924	GM12878	blood:	n/a	n/a
27	PAX5	chrX:79967647-79967977	GM12878	blood:	n/a	n/a
28	PAX5	chrX:79967769-79967943	GM12878	blood:	n/a	n/a
29	POLR2A	chrX:79974332-79974357	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chrX:79983895-79984058	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chrX:79969800-79970037	ProgFib	skin:	n/a	n/a
32	POLR2A	chrX:79981490-79981559	ProgFib	skin:	n/a	n/a
33	POLR2A	chrX:79981141-79981785	PFSK-1	brain:	n/a	n/a
34	POLR2A	chrX:79979254-79979323	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chrX:79988102-79988277	ProgFib	skin:	n/a	n/a
36	POLR2A	chrX:79966425-79966606	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chrX:79988645-79988764	ProgFib	skin:	n/a	n/a
38	POLR2A	chrX:79979171-79979251	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chrX:79985834-79985888	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chrX:79975688-79975857	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chrX:79978898-79978948	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chrX:79983477-79983525	HUVEC	blood vessel:	n/a	n/a
43	RFX5	chrX:79974468-79974545	K562	blood:	n/a	n/a
44	STAT3	chrX:79979203-79979367	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chrX:79976152-79976226	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chrX:79970863-79971044	MCF10A-Er-Src	breast:	n/a	n/a
47	TBP	chrX:79978346-79978415	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:79987929..79989580-chrX:79990479..79992508,2	K562	blood:
2	chrX:79983222..79984949-chrX:79986691..79988254,2	MCF-7	breast:
3	chrX:79983222..79984949-chrX:79986691..79988254,2	MCF-7	breast:

Variant related genes	Relation type
BRWD3	TF binding region

Extended variants
information (count: 346 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62605572	chrX:79966555-79966556	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs73225401	chrX:79966556-79966557	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190150621	chrX:79966582-79966583	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs151174125	chrX:79966596-79966597	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561487806	chrX:79966626-79966627	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181871971	chrX:79966873-79966874	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs186463689	chrX:79966958-79966959	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528660786	chrX:79966997-79966998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs73225402	chrX:79967104-79967105	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs146822367	chrX:79967319-79967320	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368861463	chrX:79967403-79967404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189331034	chrX:79967533-79967534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs6622358	chrX:79967635-79967636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373042116	chrX:79967779-79967780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs3132168	chrX:79967793-79967794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369387520	chrX:79967836-79967837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6622359	chrX:79967895-79967896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376137184	chrX:79968072-79968073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6622360	chrX:79968089-79968090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567938743	chrX:79968102-79968103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371074790	chrX:79968167-79968168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373283036	chrX:79968177-79968178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553179559	chrX:79968221-79968222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7886875	chrX:79968284-79968285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370332815	chrX:79968440-79968441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79958326	chrX:79968554-79968555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76294110	chrX:79968612-79968613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374340324	chrX:79968677-79968678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368153475	chrX:79968712-79968713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370593341	chrX:79968717-79968718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375714071	chrX:79968829-79968830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190963259	chrX:79968915-79968916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183166562	chrX:79968950-79968951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6616698	chrX:79968999-79969000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186514559	chrX:79969123-79969124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371489448	chrX:79969137-79969138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191580426	chrX:79969138-79969139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182750390	chrX:79969162-79969163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79527295	chrX:79969167-79969168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201232963	chrX:79969195-79969196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192390730	chrX:79969307-79969308	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540936730	chrX:79969385-79969386	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs141897695	chrX:79969461-79969462	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183169667	chrX:79969539-79969540	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147113308	chrX:79969607-79969608	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187716237	chrX:79969614-79969615	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192694219	chrX:79969625-79969626	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs138301385	chrX:79969657-79969658	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs149564749	chrX:79970121-79970122	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184962244	chrX:79970239-79970240	Weak transcription Strong transcription ZNF genes & repeats	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
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
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79926200-79978000	Weak transcription	NH-A	brain
2	chrX:79930800-79987600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chrX:79931000-79971000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chrX:79931000-79982800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chrX:79931200-79985600	Weak transcription	A549	lung
6	chrX:79932800-79984800	Weak transcription	Brain Anterior Caudate	brain
7	chrX:79933000-79972200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chrX:79933400-79972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chrX:79933400-79984600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chrX:79934600-79975200	Weak transcription	GM12878-XiMat	blood
11	chrX:79935400-79986800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chrX:79936000-79977600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chrX:79936200-79980800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chrX:79936600-80000200	Weak transcription	Small Intestine	intestine
15	chrX:79937000-79982000	Weak transcription	HSMMtube	muscle
16	chrX:79937000-80003600	Weak transcription	Fetal Lung	lung
17	chrX:79940200-79972600	Weak transcription	Fetal Kidney	kidney
18	chrX:79942600-79977600	Weak transcription	HSMM	muscle
19	chrX:79943800-79984800	Weak transcription	Brain Germinal Matrix	brain
20	chrX:79944000-79969800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chrX:79947200-79975400	Weak transcription	Pancreas	Pancrea
22	chrX:79950200-79971400	Weak transcription	Spleen	Spleen
23	chrX:79950200-79980000	Weak transcription	Esophagus	oesophagus
24	chrX:79950400-79971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chrX:79950400-80001600	Weak transcription	Placenta	Placenta
26	chrX:79950600-79968400	Weak transcription	Aorta	Aorta
27	chrX:79950600-79978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chrX:79950600-80012000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chrX:79950800-79974600	Weak transcription	Gastric	stomach
30	chrX:79950800-79977200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chrX:79950800-79977800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chrX:79950800-79978000	Weak transcription	Fetal Muscle Trunk	muscle
33	chrX:79950800-79979200	Weak transcription	Thymus	Thymus
34	chrX:79950800-79979400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chrX:79950800-79981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chrX:79950800-79984200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chrX:79950800-80008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chrX:79951000-79977800	Weak transcription	Fetal Intestine Large	intestine
39	chrX:79951200-79987600	Weak transcription	Osteobl	bone
40	chrX:79951400-79979000	Weak transcription	Adipose Nuclei	Adipose
41	chrX:79951600-79969600	Weak transcription	Duodenum Mucosa	Duodenum
42	chrX:79951600-79979800	Weak transcription	Stomach Smooth Muscle	stomach
43	chrX:79951600-79989400	Weak transcription	Brain Hippocampus Middle	brain
44	chrX:79951600-80006000	Weak transcription	Primary B cells from cord blood	blood
45	chrX:79952000-79972000	Weak transcription	Primary hematopoietic stem cells	blood
46	chrX:79953200-79986800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chrX:79953400-79969800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chrX:79953400-80007600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chrX:79953800-79969800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chrX:79954000-79970800	Weak transcription	Primary T cells from cord blood	blood

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