Variant report

Variant	nsv8190
Chromosome Location	chr7:101973370-101999576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:572)
CpG islands
(count:367)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:101982483-101982724	GM12878	blood:	n/a	n/a
2	BATF	chr7:101995463-101995686	GM12878	blood:	n/a	n/a
3	BATF	chr7:101977330-101977583	GM12878	blood:	n/a	n/a
4	BATF	chr7:101997851-101998066	GM12878	blood:	n/a	n/a
5	BATF	chr7:101983890-101984191	GM12878	blood:	n/a	n/a
6	BATF	chr7:101997012-101997266	GM12878	blood:	n/a	n/a
7	BATF	chr7:101980953-101981449	GM12878	blood:	n/a	n/a
8	BATF	chr7:101999193-101999814	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:101981186-101981393	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:101997984-101998246	GM12878	blood:	n/a	n/a
11	BCL11A	chr7:101982462-101982707	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:101983901-101984172	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:101975878-101976049	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:101999465-101999748	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:101981081-101981468	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:101987225-101987383	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:101996913-101997326	GM12878	blood:	n/a	n/a
18	BCL11A	chr7:101983656-101983848	GM12878	blood:	n/a	n/a
19	BCL11A	chr7:101982419-101982753	GM12878	blood:	n/a	n/a
20	BCL11A	chr7:101994622-101994770	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:101983613-101984160	GM12878	blood:	n/a	n/a
22	BCL11A	chr7:101987793-101988042	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:101990402-101990553	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:101992379-101992526	GM12878	blood:	n/a	n/a
25	BCL11A	chr7:101997514-101997663	GM12878	blood:	n/a	n/a
26	BCL11A	chr7:101975677-101976058	GM12878	blood:	n/a	n/a
27	BCL11A	chr7:101999319-101999808	GM12878	blood:	n/a	n/a
28	BCL11A	chr7:101977204-101977363	GM12878	blood:	n/a	n/a
29	BHLHE40	chr7:101997473-101997748	HepG2	liver:	n/a	n/a
30	CEBPB	chr7:101983558-101984402	GM12878	blood:	n/a	n/a
31	CTCF	chr7:101997753-101998150	A549	lung:	n/a	n/a
32	CTCF	chr7:101997746-101998188	A549	lung:	n/a	n/a
33	CTCF	chr7:101997858-101998132	A549	lung:	n/a	n/a
34	CTCF	chr7:101996643-101998335	A549	lung:	n/a	n/a
35	CTCF	chr7:101997822-101998077	K562	blood:	n/a	n/a
36	CTCF	chr7:101997852-101998187	K562	blood:	n/a	n/a
37	CTCF	chr7:101981269-101981350	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr7:101977759-101977827	GM20000	blood:	n/a	n/a
39	CTCF	chr7:101989161-101989360	K562	blood:	n/a	n/a
40	CTCF	chr7:101997828-101998046	K562	blood:	n/a	n/a
41	CTCF	chr7:101997964-101998028	GM13976	blood:	n/a	n/a
42	EBF1	chr7:101981076-101981587	GM12878	blood:	n/a	n/a
43	EBF1	chr7:101986078-101986364	GM12878	blood:	n/a	chr7:101986223-101986234
44	EBF1	chr7:101984450-101984741	GM12878	blood:	n/a	n/a
45	EBF1	chr7:101983478-101984267	GM12878	blood:	n/a	chr7:101983745-101983756
46	EBF1	chr7:101999409-101999781	GM12878	blood:	n/a	n/a
47	EBF1	chr7:101997857-101998282	GM12878	blood:	n/a	n/a
48	EBF1	chr7:101996974-101997274	GM12878	blood:	n/a	n/a
49	EBF1	chr7:101987902-101988163	GM12878	blood:	n/a	n/a
50	EBF1	chr7:101986234-101986240	GM12878	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101999041-101999091	NB4	blood:	n/a
2	chr7:101999041-101999091	NB4	blood:	n/a
3	chr7:101986487-101986537	Caco-2	colon:	n/a
4	chr7:101989034-101989084	MCF10A-Er-Src	breast:	n/a
5	chr7:101989013-101989063	HRPEpiC	eye:	n/a
6	chr7:101989013-101989063	NT2-D1	testis:	n/a
7	chr7:101989034-101989084	SKMC	muscle:	n/a
8	chr7:101989013-101989063	AG04450	lung:	fetal
9	chr7:101991189-101991239	HIPEpiC	eye:	n/a
10	chr7:101989034-101989084	AG04449	skin:	fetal
11	chr7:101989013-101989063	AG04449	skin:	fetal
12	chr7:101999041-101999091	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:101986487-101986537	BJ	skin:	n/a
14	chr7:101998514-101998564	AG09319	gingival:	n/a
15	chr7:101986487-101986537	IMR90	lung:	fetal
16	chr7:101998514-101998564	A549	lung:	n/a
17	chr7:101986487-101986537	AG04450	lung:	fetal
18	chr7:101986487-101986537	HRPEpiC	eye:	n/a
19	chr7:101989034-101989084	NH-A	brain:	n/a
20	chr7:101998514-101998564	AG04449	skin:	fetal
21	chr7:101999041-101999091	SK-N-SH	brain:	n/a
22	chr7:101991189-101991239	K562	blood:	n/a
23	chr7:101991189-101991239	AG04449	skin:	fetal
24	chr7:101989013-101989063	Jurkat	blood:	n/a
25	chr7:101986487-101986537	SK-N-SH	brain:	n/a
26	chr7:101999041-101999091	T-47D	breast:	n/a
27	chr7:101999041-101999091	Hepatocyte	liver:	n/a
28	chr7:101986487-101986537	ProgFib	skin:	n/a
29	chr7:101986487-101986537	AG10803	skin:	n/a
30	chr7:101999041-101999091	HRCEpiC	kidney:	n/a
31	chr7:101999041-101999091	GM12892	blood:	n/a
32	chr7:101986487-101986537	SK-N-SH_RA	brain:	n/a
33	chr7:101986487-101986537	HUVEC	blood vessel:	n/a
34	chr7:101991189-101991239	PFSK-1	brain:	n/a
35	chr7:101999041-101999091	K562	blood:	n/a
36	chr7:101991189-101991239	SK-N-SH	brain:	n/a
37	chr7:101991189-101991239	SK-N-SH_RA	brain:	n/a
38	chr7:101989034-101989084	SK-N-SH_RA	brain:	n/a
39	chr7:101989013-101989063	AoSMC	blood vessel:	n/a
40	chr7:101998514-101998564	PANC-1	pancreas:	n/a
41	chr7:101999041-101999091	PrEC	prostate:	n/a
42	chr7:101998514-101998564	BJ	skin:	n/a
43	chr7:101989013-101989063	HEK293	kidney:	embryo
44	chr7:101989034-101989084	Caco-2	colon:	n/a
45	chr7:101986487-101986537	AG04449	skin:	fetal
46	chr7:101989013-101989063	LNCaP	prostate:	n/a
47	chr7:101989034-101989084	Hela-S3	cervix:	n/a
48	chr7:101986487-101986537	H1-hESC	embryonic stem cell:	embryo
49	chr7:101991189-101991239	HEEpiC	esophagus:	n/a
50	chr7:101986487-101986537	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101965469..101968383-chr7:101972225..101973731,2	K562	blood:
2	chr7:101962260..101964912-chr7:101971375..101973484,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKRIP1-1	chr7:101993676-101993848	ENSG00000259313.1
2	lnc-PRKRIP1-1	chr7:101995384-101995807	ENSG00000259313.1

No data

Variant related genes	Relation type
PRKRIP1	TF binding region
ENSG00000170409	TF binding region
ENSG00000228546	TF binding region
ENSG00000200552	TF binding region
SPDYE6	TF binding region
PRKRIP1	CpG island
ENSG00000170409	CpG island
ENSG00000228546	CpG island
ENSG00000200552	CpG island
SPDYE6	CpG island

Extended variants
information (count: 721 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180880827	chr7:101973393-101973394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564371337	chr7:101973394-101973395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528408829	chr7:101973504-101973505	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs546750666	chr7:101973523-101973524	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
5	rs78875914	chr7:101973543-101973544	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
6	rs564307573	chr7:101973572-101973573	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
7	rs548231428	chr7:101973592-101973593	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
8	rs113177858	chr7:101973713-101973714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537013873	chr7:101973739-101973740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558719008	chr7:101973744-101973745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185933933	chr7:101973759-101973760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535056687	chr7:101973826-101973827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376150729	chr7:101973887-101973888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542591958	chr7:101973893-101973894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553523483	chr7:101973904-101973905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575044499	chr7:101973910-101973911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542442470	chr7:101973924-101973925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557062963	chr7:101973936-101973937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190266809	chr7:101973954-101973955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148262716	chr7:101973956-101973957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563952536	chr7:101973958-101973959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181190668	chr7:101973967-101973968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540115421	chr7:101973977-101973978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562019820	chr7:101973994-101973995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376342812	chr7:101974013-101974014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140415582	chr7:101974022-101974023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569801920	chr7:101974061-101974062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530943573	chr7:101974080-101974081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552541146	chr7:101974085-101974086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570798939	chr7:101974086-101974087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535024809	chr7:101974098-101974099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150349745	chr7:101974101-101974102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527950154	chr7:101974119-101974120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568789191	chr7:101974134-101974135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536020424	chr7:101974144-101974145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185979480	chr7:101974161-101974162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2177925	chr7:101974208-101974209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545625048	chr7:101974212-101974213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201033067	chr7:101974228-101974229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544633897	chr7:101974242-101974243	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs200744833	chr7:101974292-101974293	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs202191427	chr7:101974340-101974341	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs201126426	chr7:101974343-101974344	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs2141040	chr7:101974347-101974348	Weak transcription	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs199588925	chr7:101974350-101974351	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs10717510	chr7:101974352-101974353	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs373285139	chr7:101974383-101974384	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs568289284	chr7:101974408-101974409	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs535271280	chr7:101974429-101974430	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs553507661	chr7:101974461-101974462	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101944000-101975400	Weak transcription	Right Atrium	heart
2	chr7:101968000-101975400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:101971800-101974200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:101972200-101973400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:101972600-101973400	Enhancers	GM12878-XiMat	blood
6	chr7:101972600-101973600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:101972800-101973600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:101972800-101973800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:101972800-101980800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:101973200-101973600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:101973400-101973600	Enhancers	Fetal Kidney	kidney
12	chr7:101973400-101974200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:101973400-101975200	Weak transcription	GM12878-XiMat	blood
14	chr7:101973600-101974200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:101973600-101974800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:101973800-101974000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:101973800-101974000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:101974200-101974800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:101974800-101975000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:101974800-101975000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:101975000-101976400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:101975200-101976200	Enhancers	GM12878-XiMat	blood
23	chr7:101975400-101977200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:101976200-101981000	Weak transcription	GM12878-XiMat	blood
25	chr7:101980800-101983800	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:101981000-101981800	Enhancers	GM12878-XiMat	blood
27	chr7:101981400-101981800	Enhancers	Primary B cells from cord blood	blood
28	chr7:101981800-101986000	Weak transcription	GM12878-XiMat	blood
29	chr7:101987400-102003800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:101987600-101990600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:101987600-101990600	Weak transcription	Liver	Liver
32	chr7:101987600-101990600	Weak transcription	Lung	lung
33	chr7:101987600-101990600	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links