Variant report

Variant	nsv981569
Chromosome Location	chr7:108143507-108152160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:108143693-108143705	GM12878	blood:	n/a	n/a
2	CREB1	chr7:108143899-108144274	GM12878	blood:	n/a	n/a
3	CUX1	chr7:108143746-108144419	GM12878	blood:	n/a	n/a
4	ELK1	chr7:108143671-108144049	GM12878	blood:	n/a	n/a
5	EP300	chr7:108143873-108144357	GM12878	blood:	n/a	n/a
6	EP300	chr7:108151042-108151295	GM12878	blood:	n/a	n/a
7	FOS	chr7:108145231-108145265	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXP2	chr7:108143922-108144241	SK-N-MC	brain:	n/a	n/a
9	IRF3	chr7:108143756-108143771	GM12878	blood:	n/a	n/a
10	MAFF	chr7:108145580-108145659	HepG2	liver:	n/a	chr7:108145599-108145617
11	MAX	chr7:108143667-108143696	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:108143808-108144311	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr7:108151067-108151269	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:108144184-108144269	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:108146663-108146732	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:108143897-108144315	Raji	blood:	n/a	n/a
17	POLR2A	chr7:108144014-108144170	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:108150669-108150886	GM12878	blood:	n/a	n/a
19	POU2F2	chr7:108143718-108144196	GM12878	blood:	n/a	chr7:108143965-108143978
20	POU2F2	chr7:108143852-108144086	GM12891	blood:	n/a	chr7:108143965-108143978
21	POU2F2	chr7:108143841-108144148	GM12878	blood:	n/a	chr7:108143965-108143978
22	SP1	chr7:108151056-108151317	GM12878	blood:	n/a	n/a
23	STAT3	chr7:108144169-108144274	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr7:108144239-108144345	MCF10A-Er-Src	breast:	n/a	n/a
25	TBP	chr7:108143837-108144424	GM12878	blood:	n/a	n/a
26	WRNIP1	chr7:108144077-108144436	GM12878	blood:	n/a	n/a
27	ZBTB33	chr7:108150655-108150971	K562	blood:	n/a	n/a
28	ZBTB33	chr7:108150990-108151438	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:108141868..108144556-chr7:108210151..108212215,2	MCF-7	breast:
2	chr7:108141263..108144048-chr7:108145824..108147368,2	K562	blood:
3	chr7:108143422..108146244-chr7:108213317..108215644,2	K562	blood:
4	chr7:108143447..108146507-chr7:108154602..108157266,3	MCF-7	breast:
5	chr7:108151422..108153185-chr7:108165229..108166886,2	K562	blood:
6	chr7:108152047..108154125-chr7:108156232..108158415,2	K562	blood:
7	chr7:108150467..108154049-chr7:108165742..108167801,3	K562	blood:
8	chr7:108150847..108152425-chr7:108209137..108210657,2	K562	blood:
9	chr7:108140209..108142096-chr7:108144749..108147683,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THAP5-1	chr7:108150668-108151827	NONHSAT122736
2	lnc-THAP5-1	chr7:108151344-108151826	NONHSAT122737

No data

Variant related genes	Relation type
RPL7P32	TF binding region
PNPLA8	TF binding region
ENSG00000128590	chromatin interactions
ENSG00000135241	chromatin interactions
ENSG00000177683	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:314 , 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	rs189671389	chr7:108143513-108143514	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568325117	chr7:108143527-108143528	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs527452633	chr7:108143538-108143539	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35960147	chr7:108143654-108143655	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556552939	chr7:108143763-108143764	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371178681	chr7:108143769-108143770	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs576470479	chr7:108143817-108143818	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs40849	chr7:108143827-108143828	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs192703979	chr7:108143841-108143842	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs75349033	chr7:108143862-108143863	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs185054552	chr7:108143939-108143940	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs541211673	chr7:108143943-108143944	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs541623118	chr7:108143956-108143957	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs143565397	chr7:108144017-108144018	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs189022562	chr7:108144053-108144054	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs114710019	chr7:108144090-108144091	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs563336911	chr7:108144116-108144117	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs556511960	chr7:108144117-108144118	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs574616701	chr7:108144132-108144133	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs59874306	chr7:108144146-108144147	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs532008196	chr7:108144159-108144160	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541812530	chr7:108144169-108144170	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs181697009	chr7:108144178-108144179	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs559852828	chr7:108144273-108144274	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs111911542	chr7:108144282-108144283	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs40850	chr7:108144396-108144397	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs186336300	chr7:108144410-108144411	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs116111517	chr7:108144411-108144412	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs563097429	chr7:108144468-108144469	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537303295	chr7:108144477-108144478	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs117031259	chr7:108144521-108144522	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189516316	chr7:108144547-108144548	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538634574	chr7:108144571-108144572	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559043803	chr7:108144670-108144671	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199667179	chr7:108144673-108144674	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142290406	chr7:108144674-108144675	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534910359	chr7:108144685-108144686	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75868008	chr7:108144694-108144695	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116362289	chr7:108144747-108144748	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146071875	chr7:108144808-108144809	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563806134	chr7:108144816-108144817	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180705788	chr7:108144863-108144864	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144055516	chr7:108144870-108144871	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35220845	chr7:108144878-108144879	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138663794	chr7:108144910-108144911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528143975	chr7:108144929-108144930	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548416023	chr7:108144936-108144937	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185960215	chr7:108144951-108144952	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561906353	chr7:108144958-108144959	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201553256	chr7:108144966-108144967	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108102400-108143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:108102800-108158400	Weak transcription	HSMMtube	muscle
3	chr7:108105800-108158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:108106200-108150800	Weak transcription	NHLF	lung
5	chr7:108109000-108162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:108111400-108154800	Weak transcription	NHEK	skin
7	chr7:108111800-108143600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:108113200-108157000	Weak transcription	Psoas Muscle	Psoas
9	chr7:108113800-108150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:108113800-108165800	Weak transcription	Gastric	stomach
11	chr7:108114000-108165000	Weak transcription	Colonic Mucosa	Colon
12	chr7:108114400-108160000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:108115200-108151800	Weak transcription	NHDF-Ad	bronchial
14	chr7:108117200-108150600	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:108117200-108151800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:108117800-108164200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:108119200-108157600	Weak transcription	Brain Germinal Matrix	brain
18	chr7:108119800-108144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:108119800-108144200	Weak transcription	Small Intestine	intestine
20	chr7:108119800-108151000	Weak transcription	Fetal Kidney	kidney
21	chr7:108119800-108151800	Weak transcription	Thymus	Thymus
22	chr7:108119800-108151800	Weak transcription	HMEC	breast
23	chr7:108119800-108154800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:108119800-108158200	Weak transcription	Aorta	Aorta
25	chr7:108121600-108158200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:108122000-108144200	Weak transcription	Fetal Brain Male	brain
27	chr7:108123400-108144800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:108128200-108158000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:108130000-108165000	Weak transcription	Pancreas	Pancrea
30	chr7:108130200-108162000	Weak transcription	Hela-S3	cervix
31	chr7:108130800-108165000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:108132400-108151000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:108132800-108158400	Weak transcription	A549	lung
34	chr7:108133600-108154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:108133600-108155600	Weak transcription	Fetal Heart	heart
36	chr7:108135200-108158000	Weak transcription	Right Ventricle	heart
37	chr7:108135600-108151800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:108136000-108163000	Weak transcription	HepG2	liver
39	chr7:108137200-108158200	Weak transcription	NH-A	brain
40	chr7:108137600-108150600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:108138000-108143600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:108138000-108154600	Weak transcription	K562	blood
43	chr7:108140000-108143800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:108140000-108144600	Strong transcription	Primary T cells from cord blood	blood
45	chr7:108140200-108144200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:108140200-108151000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:108140600-108157600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:108140800-108154400	Weak transcription	HUVEC	blood vessel
49	chr7:108140800-108157600	Weak transcription	Brain Substantia Nigra	brain
50	chr7:108141000-108143600	Weak transcription	Brain Anterior Caudate	brain

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