Variant report

Variant	nsv965612
Chromosome Location	chr5:147692551-147695193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:147693958-147694039	K562	blood:	n/a	n/a
2	CEBPB	chr5:147693752-147694130	Hela-S3	cervix:	n/a	chr5:147693935-147693946
3	CEBPB	chr5:147693767-147694117	HepG2	liver:	n/a	chr5:147693935-147693946
4	CEBPB	chr5:147693747-147694128	K562	blood:	n/a	chr5:147693935-147693946
5	CEBPB	chr5:147693674-147694243	HCT-116	colon:	n/a	chr5:147693935-147693946
6	CEBPB	chr5:147693824-147694081	IMR90	lung:	n/a	chr5:147693935-147693946
7	CEBPB	chr5:147693770-147694061	K562	blood:	n/a	chr5:147693935-147693946
8	CEBPB	chr5:147693814-147694035	H1-hESC	embryonic stem cell:	n/a	chr5:147693935-147693946
9	CEBPB	chr5:147693771-147694106	A549	lung:	n/a	chr5:147693935-147693946
10	CEBPB	chr5:147693709-147694233	MCF-7	breast:	n/a	chr5:147693935-147693946
11	CEBPB	chr5:147693674-147694173	MCF-7	breast:	n/a	chr5:147693935-147693946
12	CTCF	chr5:147693840-147693990	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr5:147693886-147693951	LNCaP	prostate:	n/a	n/a
14	CTCF	chr5:147693868-147693964	K562	blood:	n/a	n/a
15	CTCF	chr5:147693880-147694030	HRE	kidney:	n/a	n/a
16	CTCF	chr5:147693760-147693910	Caco-2	colon:	n/a	n/a
17	CTCF	chr5:147693800-147693950	HRE	kidney:	n/a	n/a
18	CTCF	chr5:147693815-147694061	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:147693760-147693910	NHEK	skin:	n/a	n/a
20	CTCF	chr5:147693837-147693972	Medullo	brain:	n/a	n/a
21	CTCF	chr5:147693848-147694027	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr5:147693820-147693970	HMEC	breast:	n/a	n/a
23	CTCF	chr5:147693840-147693990	NHEK	skin:	n/a	n/a
24	CTCF	chr5:147693777-147694062	K562	blood:	n/a	n/a
25	CTCF	chr5:147693800-147693950	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:147693860-147694033	NHEK	skin:	n/a	n/a
27	CTCF	chr5:147693800-147693950	SAEC	small airway:	n/a	n/a
28	CTCF	chr5:147693893-147694012	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:147693820-147693970	HepG2	liver:	n/a	n/a
30	CTCF	chr5:147693859-147694034	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:147693480-147693630	SAEC	small airway:	n/a	n/a
32	CTCF	chr5:147693880-147694030	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:147693680-147693830	RPTEC	kidney:	n/a	n/a
34	CTCF	chr5:147693840-147693990	HepG2	liver:	n/a	n/a
35	CTCF	chr5:147693840-147693990	GM06990	blood:	n/a	n/a
36	CTCF	chr5:147693707-147694150	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:147693764-147694166	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:147693685-147694178	HCT-116	colon:	n/a	n/a
39	CTCF	chr5:147693680-147693830	GM12875	blood:	n/a	n/a
40	CTCF	chr5:147693880-147694025	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:147693860-147694010	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr5:147693933-147693971	MCF-7	breast:	n/a	n/a
43	FOS	chr5:147693896-147694098	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr5:147693824-147694075	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr5:147693878-147694057	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr5:147693824-147694053	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr5:147693793-147694078	MCF10A-Er-Src	breast:	n/a	n/a
48	RAD21	chr5:147693715-147694123	HCT-116	colon:	n/a	n/a
49	RAD21	chr5:147693812-147694044	SK-N-SH_RA	brain:	n/a	n/a
50	RAD21	chr5:147693830-147694052	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:147693779-147693829	HCM	heart:	n/a
2	chr5:147693779-147693829	HRE	kidney:	n/a
3	chr5:147693779-147693829	HEEpiC	esophagus:	n/a
4	chr5:147693779-147693829	AoSMC	blood vessel:	n/a
5	chr5:147693779-147693829	A549	lung:	n/a
6	chr5:147693779-147693829	H1-hESC	embryonic stem cell:	embryo
7	chr5:147693779-147693829	SK-N-MC	brain:	n/a
8	chr5:147693779-147693829	GM12891	blood:	n/a
9	chr5:147693779-147693829	SAEC	small airway:	n/a
10	chr5:147693779-147693829	AG10803	skin:	n/a
11	chr5:147693779-147693829	HRPEpiC	eye:	n/a
12	chr5:147693779-147693829	HAEpiC	amniotic membrane:	n/a
13	chr5:147693779-147693829	IMR90	lung:	fetal
14	chr5:147693779-147693829	PFSK-1	brain:	n/a
15	chr5:147693779-147693829	LNCaP	prostate:	n/a
16	chr5:147693779-147693829	NHDF-neo	bronchial:	n/a
17	chr5:147693779-147693829	AG04449	skin:	fetal
18	chr5:147693779-147693829	Caco-2	colon:	n/a
19	chr5:147693779-147693829	HIPEpiC	eye:	n/a
20	chr5:147693779-147693829	ECC-1	luminal epithelium:	n/a
21	chr5:147693779-147693829	HepG2	liver:	n/a
22	chr5:147693779-147693829	GM19239	blood:	n/a
23	chr5:147693779-147693829	BE2_C	brain:	n/a
24	chr5:147693779-147693829	HCF	heart:	n/a
25	chr5:147693779-147693829	GM12878	blood:	n/a
26	chr5:147693779-147693829	HNPCEpiC	eye:	n/a
27	chr5:147693779-147693829	SK-N-SH_RA	brain:	n/a
28	chr5:147693779-147693829	U87	brain:	n/a
29	chr5:147693779-147693829	BJ	skin:	n/a
30	chr5:147693779-147693829	HL-60	blood:	n/a
31	chr5:147693779-147693829	HCT-116	colon:	n/a
32	chr5:147693779-147693829	AG09309	skin:	n/a
33	chr5:147693779-147693829	HRCEpiC	kidney:	n/a
34	chr5:147693779-147693829	MCF10A-Er-Src	breast:	n/a
35	chr5:147693779-147693829	CMK	blood:	n/a
36	chr5:147693779-147693829	NHBE	bronchial:	n/a
37	chr5:147693779-147693829	K562	blood:	n/a
38	chr5:147693779-147693829	SK-N-SH	brain:	n/a
39	chr5:147693779-147693829	HMEC	breast:	n/a
40	chr5:147693779-147693829	NT2-D1	testis:	n/a
41	chr5:147693779-147693829	ovcar-3	ovarian:	n/a
42	chr5:147693779-147693829	SKMC	muscle:	n/a
43	chr5:147693779-147693829	PrEC	prostate:	n/a
44	chr5:147693779-147693829	HCPEpiC	choroid plexus:	n/a
45	chr5:147693779-147693829	ProgFib	skin:	n/a
46	chr5:147693779-147693829	T-47D	breast:	n/a
47	chr5:147693779-147693829	NH-A	brain:	n/a
48	chr5:147693779-147693829	AG09319	gingival:	n/a
49	chr5:147693779-147693829	NB4	blood:	n/a
50	chr5:147693779-147693829	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147693682..147694524-chr5:147754020..147754809,2	MCF-7	breast:
2	chr5:147692078..147693866-chr5:147761440..147764078,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINK7-1	chr5:147692937-147694042	NONHSAT104444
2	lnc-SPINK7-1	chr5:147693663-147694071	NONHSAT104445
3	lnc-SPINK7-1	chr5:147692937-147692962	NONHSAT104445
4	lnc-SPINK7-1	chr5:147693506-147693787	ENSG00000254282.1

No data

Variant related genes	Relation type
SPINK7	TF binding region
ENSG00000268126	TF binding region
SPINK7	CpG island
ENSG00000268126	CpG island
ENSG00000247199	chromatin interactions
ENSG00000145868	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571493359	chr5:147692551-147692552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs202051284	chr5:147692571-147692572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs34890330	chr5:147692609-147692610	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181045448	chr5:147692640-147692641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534094158	chr5:147692663-147692664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146462358	chr5:147692665-147692666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544543167	chr5:147692749-147692750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562850120	chr5:147692753-147692754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113864148	chr5:147692794-147692795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548721990	chr5:147692914-147692915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201613803	chr5:147692952-147692953	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs199509556	chr5:147692953-147692954	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs2303057	chr5:147692959-147692960	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2303056	chr5:147692967-147692968	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs55772018	chr5:147693039-147693040	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73795090	chr5:147693041-147693042	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs538829393	chr5:147693054-147693055	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs557153197	chr5:147693085-147693086	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs569176892	chr5:147693088-147693089	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs554699241	chr5:147693163-147693164	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs146656729	chr5:147693186-147693187	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs573168748	chr5:147693192-147693193	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs17719662	chr5:147693202-147693203	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558999174	chr5:147693204-147693205	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs576884197	chr5:147693231-147693232	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs149007068	chr5:147693232-147693233	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs562712926	chr5:147693253-147693254	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs530339415	chr5:147693283-147693284	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs200765822	chr5:147693324-147693325	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs543250253	chr5:147693361-147693362	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs540318856	chr5:147693374-147693375	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs1862431	chr5:147693423-147693424	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143795298	chr5:147693426-147693427	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs546420009	chr5:147693440-147693441	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs370288315	chr5:147693445-147693446	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs553760616	chr5:147693491-147693492	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs532198419	chr5:147693498-147693499	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs56729850	chr5:147693542-147693543	Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569038911	chr5:147693554-147693555	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs185512765	chr5:147693573-147693574	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs377578558	chr5:147693581-147693582	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs79608039	chr5:147693600-147693601	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs41291443	chr5:147693605-147693606	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs150152346	chr5:147693672-147693673	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs374264422	chr5:147693743-147693744	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs377723072	chr5:147693744-147693745	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs138587974	chr5:147693756-147693757	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs371400056	chr5:147693779-147693780	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs149286191	chr5:147693788-147693789	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs374858460	chr5:147693799-147693800	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147671800-147693800	Weak transcription	Left Ventricle	heart
2	chr5:147687800-147694000	Weak transcription	Fetal Heart	heart
3	chr5:147689000-147699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:147692200-147693600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:147693600-147693800	Enhancers	Esophagus	oesophagus
6	chr5:147693600-147694200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:147693600-147695000	Enhancers	Right Atrium	heart
8	chr5:147693800-147694200	Enhancers	Left Ventricle	heart
9	chr5:147693800-147695200	Enhancers	Fetal Brain Male	brain
10	chr5:147693800-147699600	Weak transcription	Esophagus	oesophagus
11	chr5:147694000-147694400	Enhancers	Fetal Heart	heart
12	chr5:147694000-147695000	Enhancers	Fetal Brain Female	brain
13	chr5:147694200-147699600	Weak transcription	Left Ventricle	heart
14	chr5:147694600-147695800	Enhancers	Ovary	ovary
15	chr5:147694800-147695000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:147695000-147696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:147695000-147699600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links