Variant report

Variant	nsv966885
Chromosome Location	chr7:128212815-128256300
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	ARID3A	chr7:128236826-128237205	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:128249179-128249211	K562	blood:	n/a	n/a
3	BATF	chr7:128249040-128249396	GM12878	blood:	n/a	n/a
4	CBX3	chr7:128248956-128249619	K562	blood:	n/a	n/a
5	CEBPB	chr7:128237452-128237652	IMR90	lung:	n/a	chr7:128237507-128237518 chr7:128237480-128237491
6	CEBPB	chr7:128215373-128215559	K562	blood:	n/a	n/a
7	CEBPB	chr7:128250289-128250470	IMR90	lung:	n/a	n/a
8	CEBPB	chr7:128237459-128237583	HepG2	liver:	n/a	chr7:128237507-128237518 chr7:128237480-128237491
9	CEBPB	chr7:128220859-128221190	IMR90	lung:	n/a	chr7:128221057-128221068
10	CEBPB	chr7:128237404-128237632	MCF-7	breast:	n/a	chr7:128237507-128237518 chr7:128237480-128237491
11	CEBPB	chr7:128215356-128215597	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr7:128215390-128215586	K562	blood:	n/a	n/a
13	CEBPB	chr7:128249205-128249377	K562	blood:	n/a	n/a
14	CEBPB	chr7:128215391-128215634	MCF-7	breast:	n/a	n/a
15	CEBPB	chr7:128237455-128237571	A549	lung:	n/a	chr7:128237507-128237518 chr7:128237480-128237491
16	CEBPB	chr7:128237402-128237499	K562	blood:	n/a	chr7:128237480-128237491
17	CTCF	chr7:128225620-128225770	A549	lung:	n/a	n/a
18	CTCF	chr7:128249200-128249350	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr7:128248840-128248990	HFF	foreskin:	n/a	n/a
20	CTCF	chr7:128249079-128249265	A549	lung:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
21	CTCF	chr7:128248860-128249010	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr7:128213060-128213210	GM12869	blood:	n/a	n/a
23	CTCF	chr7:128248873-128249599	SK-N-SH	brain:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
24	CTCF	chr7:128249200-128249350	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr7:128249180-128249330	HMEC	breast:	n/a	n/a
26	CTCF	chr7:128248840-128248990	RPTEC	kidney:	n/a	n/a
27	CTCF	chr7:128249200-128249350	RPTEC	kidney:	n/a	n/a
28	CTCF	chr7:128249083-128249254	GM19239	blood:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
29	CTCF	chr7:128249016-128249439	Spleen_OC	spleen:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
30	CTCF	chr7:128249180-128249430	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr7:128246346-128246377	GM13976	blood:	n/a	n/a
32	CTCF	chr7:128249120-128249270	GM12865	blood:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
33	CTCF	chr7:128249200-128249350	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr7:128249120-128249270	GM12873	blood:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
35	CTCF	chr7:128248860-128249010	K562	blood:	n/a	n/a
36	CTCF	chr7:128248840-128248990	HPF	lung:	n/a	n/a
37	CTCF	chr7:128249240-128249390	A549	lung:	n/a	n/a
38	CTCF	chr7:128248860-128249010	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr7:128249200-128249350	GM12874	blood:	n/a	n/a
40	CTCF	chr7:128249044-128249297	LNCaP	prostate:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
41	CTCF	chr7:128249200-128249350	WI-38	lung:	n/a	n/a
42	CTCF	chr7:128229502-128229537	GM10248	blood:	n/a	n/a
43	CTCF	chr7:128248460-128248610	AG09319	gingival:	n/a	n/a
44	CTCF	chr7:128249200-128249350	NHLF	lung:	n/a	n/a
45	CTCF	chr7:128249180-128249330	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr7:128249151-128249184	MCF-7	breast:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249167-128249183 chr7:128249169-128249182
47	CTCF	chr7:128249062-128249294	ProgFib	skin:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
48	CTCF	chr7:128249160-128249310	AoAF	blood vessel:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182
49	CTCF	chr7:128248840-128248990	GM12865	blood:	n/a	n/a
50	CTCF	chr7:128249036-128249331	GM12878	blood:	n/a	chr7:128249169-128249182 chr7:128249171-128249181 chr7:128249166-128249184 chr7:128249168-128249189 chr7:128249167-128249183 chr7:128249169-128249182

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128115467..128118009-chr7:128236497..128238346,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71F2-7	chr7:128244104-128244312	expReg_chr7_9764_+

Variant related genes	Relation type
ENSG00000213280	TF binding region
ENSG00000165055	chromatin interactions

Extended variants
information (count: 1587 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111989605	chr7:128212833-128212834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544762844	chr7:128212894-128212895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537643337	chr7:128212933-128212934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572081091	chr7:128212940-128212941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542386791	chr7:128212960-128212961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187489518	chr7:128212964-128212965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2956681	chr7:128212966-128212967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531376068	chr7:128212996-128212997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2956682	chr7:128212998-128212999	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs193280359	chr7:128213000-128213001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532866837	chr7:128213004-128213005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183802453	chr7:128213009-128213010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9691989	chr7:128213014-128213015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150663916	chr7:128213040-128213041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536947941	chr7:128213066-128213067	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542438249	chr7:128213083-128213084	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548431308	chr7:128213084-128213085	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368469427	chr7:128213122-128213123	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs569709708	chr7:128213123-128213124	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs537000821	chr7:128213380-128213381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4377902	chr7:128213448-128213449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552721146	chr7:128213503-128213504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552161479	chr7:128213523-128213524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138917760	chr7:128213530-128213531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538569721	chr7:128213537-128213538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553912508	chr7:128213573-128213574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62483349	chr7:128213579-128213580	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs536336925	chr7:128213625-128213626	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76807262	chr7:128213634-128213635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs187511634	chr7:128213661-128213662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6467183	chr7:128213662-128213663	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs201656111	chr7:128213706-128213707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564891718	chr7:128213712-128213713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192080453	chr7:128213789-128213790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2956683	chr7:128213804-128213805	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148246427	chr7:128213821-128213822	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372796446	chr7:128213823-128213824	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541393013	chr7:128213851-128213852	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559885975	chr7:128213861-128213862	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112585585	chr7:128213884-128213885	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139837161	chr7:128213885-128213886	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193292464	chr7:128213927-128213928	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548766732	chr7:128213935-128213936	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs6467184	chr7:128213956-128213957	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs529974820	chr7:128213957-128213958	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530927418	chr7:128213958-128213959	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs546854901	chr7:128213966-128213967	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560151256	chr7:128214000-128214001	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2956684	chr7:128214055-128214056	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552124610	chr7:128214057-128214058	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
T-cell prolymphocytic leukemia	19278963	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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1257 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172600-128214800	Weak transcription	Gastric	stomach
2	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
3	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
4	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
5	chr7:128173600-128214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:128173800-128214800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:128174000-128220600	Weak transcription	NHLF	lung
9	chr7:128174000-128231800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:128174000-128232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:128175400-128231800	Weak transcription	Left Ventricle	heart
12	chr7:128176000-128214800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:128177600-128231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:128179200-128231800	Weak transcription	Esophagus	oesophagus
15	chr7:128181800-128231800	Weak transcription	Aorta	Aorta
16	chr7:128183000-128214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:128183400-128214800	Weak transcription	HUVEC	blood vessel
18	chr7:128183600-128214800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:128187400-128214800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:128187400-128214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:128187600-128213800	Weak transcription	Osteobl	bone
22	chr7:128187600-128214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:128187600-128232000	Weak transcription	NH-A	brain
24	chr7:128187800-128214800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:128188000-128213800	Weak transcription	Brain Anterior Caudate	brain
26	chr7:128188000-128213800	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:128188000-128214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:128188000-128214800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:128188000-128215000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:128188000-128215000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:128188000-128220800	Weak transcription	NHEK	skin
32	chr7:128188000-128232800	Weak transcription	Fetal Brain Female	brain
33	chr7:128188200-128215000	Weak transcription	Hela-S3	cervix
34	chr7:128188200-128229800	Weak transcription	HSMM	muscle
35	chr7:128188400-128214800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:128188400-128230800	Weak transcription	Primary T cells from cord blood	blood
37	chr7:128188400-128231200	Weak transcription	Pancreas	Pancrea
38	chr7:128188600-128213800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:128188800-128231800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:128189200-128220400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:128190600-128220400	Weak transcription	NHDF-Ad	bronchial
42	chr7:128191200-128226000	Weak transcription	Ovary	ovary
43	chr7:128191400-128220600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:128191400-128232000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:128191600-128215000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:128191800-128213600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:128197800-128241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:128199400-128231800	Weak transcription	HSMMtube	muscle
49	chr7:128199800-128214200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:128199800-128214200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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