Variant report

Variant	nsv970978
Chromosome Location	chr7:152501553-152515063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:152503501-152504137	K562	blood:	n/a	n/a
2	CEBPB	chr7:152501866-152502071	IMR90	lung:	n/a	n/a
3	CEBPB	chr7:152501834-152502193	K562	blood:	n/a	n/a
4	CEBPB	chr7:152503876-152504092	K562	blood:	n/a	n/a
5	CTCF	chr7:152511170-152511191	Medullo	brain:	n/a	n/a
6	CTCF	chr7:152511163-152511243	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr7:152511102-152511267	ProgFib	skin:	n/a	n/a
8	CTCF	chr7:152511057-152511290	MCF-7	breast:	n/a	n/a
9	CTCF	chr7:152511137-152511217	GM10248	blood:	n/a	n/a
10	CTCF	chr7:152510701-152510730	Fibrobl	skin:	n/a	n/a
11	CTCF	chr7:152511016-152511286	K562	blood:	n/a	n/a
12	CTCF	chr7:152511068-152511259	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr7:152511158-152511270	GM10266	blood:	n/a	n/a
14	CTCF	chr7:152511091-152511268	HepG2	liver:	n/a	n/a
15	CTCF	chr7:152511046-152511284	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:152511123-152511220	NHEK	skin:	n/a	n/a
17	CTCF	chr7:152510978-152511247	K562	blood:	n/a	n/a
18	CTCF	chr7:152511106-152511248	LNCaP	prostate:	n/a	n/a
19	CTCF	chr7:152511074-152511268	A549	lung:	n/a	n/a
20	CTCF	chr7:152511043-152511286	Fibrobl	skin:	n/a	n/a
21	CTCF	chr7:152510923-152511328	K562	blood:	n/a	n/a
22	CTCF	chr7:152511068-152511284	MCF-7	breast:	n/a	n/a
23	CTCF	chr7:152511048-152511260	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:152511050-152511284	MCF-7	breast:	n/a	n/a
25	CTCF	chr7:152511170-152511257	GM12878	blood:	n/a	n/a
26	CTCF	chr7:152511067-152511270	GM19239	blood:	n/a	n/a
27	CTCF	chr7:152511053-152511290	Gliobla	brain:	n/a	n/a
28	CTCF	chr7:152511163-152511238	GM13976	blood:	n/a	n/a
29	CTCF	chr7:152511072-152511276	K562	blood:	n/a	n/a
30	CTCF	chr7:152511059-152511295	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:152511069-152511268	GM12891	blood:	n/a	n/a
32	CTCF	chr7:152511094-152511294	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr7:152511075-152511312	LNCaP	prostate:	n/a	n/a
34	CTCF	chr7:152511078-152511262	GM12892	blood:	n/a	n/a
35	CTCF	chr7:152511086-152511260	GM19238	blood:	n/a	n/a
36	CTCF	chr7:152511083-152511253	GM19240	blood:	n/a	n/a
37	E2F4	chr7:152503796-152503821	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr7:152503724-152504030	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr7:152503678-152504038	SK-N-SH_RA	brain:	n/a	n/a
40	FOS	chr7:152503584-152504028	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr7:152503663-152504028	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr7:152503809-152503987	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr7:152503659-152504029	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL2	chr7:152509816-152510205	HepG2	liver:	n/a	n/a
45	FOSL2	chr7:152511041-152511296	HepG2	liver:	n/a	n/a
46	FOXA1	chr7:152509739-152510143	HepG2	liver:	n/a	n/a
47	GATA2	chr7:152510032-152510282	K562	blood:	n/a	n/a
48	GATA2	chr7:152502124-152502453	K562	blood:	n/a	n/a
49	HEY1	chr7:152500876-152501597	K562	blood:	n/a	n/a
50	HEY1	chr7:152503762-152504217	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ACTR3B	TF binding region

Extended variants
information (count: 512 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556832466	chr7:152501563-152501564	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578228281	chr7:152501600-152501601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371071726	chr7:152501675-152501676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188308082	chr7:152501677-152501678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397843476	chr7:152501688-152501689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539462759	chr7:152501691-152501692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560846769	chr7:152501738-152501739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572710304	chr7:152501751-152501752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540264788	chr7:152501777-152501778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561626737	chr7:152501792-152501793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139896057	chr7:152501797-152501798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180819761	chr7:152501807-152501808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112987224	chr7:152501814-152501815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544121357	chr7:152501819-152501820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562312043	chr7:152501824-152501825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11773902	chr7:152501825-152501826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368286163	chr7:152501841-152501842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11760209	chr7:152501876-152501877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370897022	chr7:152501885-152501886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566798191	chr7:152501903-152501904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533937139	chr7:152501919-152501920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139749899	chr7:152501920-152501921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567640242	chr7:152501937-152501938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538309668	chr7:152501951-152501952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185477560	chr7:152501967-152501968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11766953	chr7:152501978-152501979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs55912729	chr7:152502071-152502072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201859613	chr7:152502089-152502090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554163104	chr7:152502105-152502106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572747709	chr7:152502123-152502124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112642685	chr7:152502136-152502137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561689570	chr7:152502193-152502194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs202216140	chr7:152502195-152502196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528624857	chr7:152502197-152502198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546724775	chr7:152502228-152502229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543854388	chr7:152502235-152502236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2531014	chr7:152502429-152502430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112408520	chr7:152502443-152502444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562249335	chr7:152502460-152502461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532951548	chr7:152502494-152502495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551598463	chr7:152502514-152502515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560165273	chr7:152502525-152502526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527615812	chr7:152502561-152502562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549024811	chr7:152502565-152502566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567637158	chr7:152502587-152502588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191257136	chr7:152502595-152502596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550258891	chr7:152502599-152502600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571812651	chr7:152502612-152502613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111693676	chr7:152502679-152502680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73728856	chr7:152502707-152502708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152482800-152518600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:152486800-152515000	Weak transcription	Fetal Intestine Small	intestine
3	chr7:152488400-152517800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:152488800-152545600	Weak transcription	Primary T cells from cord blood	blood
5	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
6	chr7:152491200-152517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:152491600-152520200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:152493000-152501800	Weak transcription	Psoas Muscle	Psoas
9	chr7:152493000-152518600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:152493200-152517200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:152493200-152517600	Weak transcription	Pancreas	Pancrea
12	chr7:152493200-152518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:152494400-152517400	Weak transcription	Lung	lung
14	chr7:152494800-152517600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:152497000-152517600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:152497600-152549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:152498200-152501600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:152498400-152515800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:152498400-152516000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:152498400-152517600	Weak transcription	Right Ventricle	heart
21	chr7:152498400-152528200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:152498400-152556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:152498600-152516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:152498600-152520000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:152498600-152526800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:152498800-152501600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:152498800-152502800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:152498800-152515600	Weak transcription	Left Ventricle	heart
30	chr7:152498800-152517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:152498800-152518600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:152498800-152518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:152498800-152520000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:152498800-152520600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:152498800-152539600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:152499000-152501600	Weak transcription	Fetal Lung	lung
37	chr7:152499000-152501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:152499000-152517800	Weak transcription	Ovary	ovary
39	chr7:152499200-152501600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:152499200-152546800	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:152499600-152502200	Weak transcription	HSMM	muscle
42	chr7:152499800-152520200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:152500000-152501600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:152500000-152502000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr7:152500600-152517200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:152500600-152517200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:152500600-152520000	Weak transcription	Fetal Intestine Large	intestine
48	chr7:152500600-152556000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:152500800-152517400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:152501000-152516000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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