Variant report

Variant	nsv879856
Chromosome Location	chr4:121697932-121737767
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	CEBPB	chr4:121704092-121704827	IMR90	lung:	n/a	chr4:121704325-121704338 chr4:121704325-121704338 chr4:121704196-121704209
2	CTCF	chr4:121730840-121730990	WI-38	lung:	n/a	n/a
3	CTCF	chr4:121730760-121730910	HEEpiC	esophagus:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
4	CTCF	chr4:121730620-121730770	HFF	foreskin:	n/a	n/a
5	CTCF	chr4:121730900-121731050	BE2_C	brain:	n/a	n/a
6	CTCF	chr4:121730756-121730951	K562	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
7	CTCF	chr4:121730739-121730963	HUVEC	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
8	CTCF	chr4:121730676-121731029	GM12878	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
9	CTCF	chr4:121730780-121730930	HMEC	breast:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
10	CTCF	chr4:121730780-121730930	GM12870	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
11	CTCF	chr4:121730680-121730830	HVMF	connective:	n/a	n/a
12	CTCF	chr4:121730740-121730890	HEK293	kidney:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
13	CTCF	chr4:121730720-121730870	BJ	skin:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
14	CTCF	chr4:121730760-121730910	GM12871	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
15	CTCF	chr4:121730760-121730910	HCFaa	heart:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
16	CTCF	chr4:121730720-121730870	Hela-S3	cervix:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
17	CTCF	chr4:121730740-121730890	AG04450	lung:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
18	CTCF	chr4:121730720-121730870	HRE	kidney:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
19	CTCF	chr4:121730802-121730914	GM10248	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
20	CTCF	chr4:121730720-121730870	HA-sp	spinal cord:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
21	CTCF	chr4:121730700-121730850	RPTEC	kidney:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
22	CTCF	chr4:121730720-121730870	HPF	lung:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
23	CTCF	chr4:121730820-121730970	HUVEC	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
24	CTCF	chr4:121730800-121730950	MCF-7	breast:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
25	CTCF	chr4:121730700-121730850	BJ	skin:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
26	CTCF	chr4:121730740-121730890	HCPEpiC	choroid plexus:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
27	CTCF	chr4:121730780-121730930	GM12875	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
28	CTCF	chr4:121730760-121730910	HCT-116	colon:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
29	CTCF	chr4:121730780-121730930	HVMF	connective:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
30	CTCF	chr4:121730800-121730950	HEK293	kidney:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
31	CTCF	chr4:121730776-121730859	Lung_OC	lung:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
32	CTCF	chr4:121730786-121730889	Kidney_OC	kidney:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
33	CTCF	chr4:121730780-121730930	AG09319	gingival:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
34	CTCF	chr4:121730760-121730910	GM12873	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
35	CTCF	chr4:121730800-121730950	HMF	breast:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
36	CTCF	chr4:121730800-121730950	HRE	kidney:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
37	CTCF	chr4:121730720-121730870	AG04449	skin:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
38	CTCF	chr4:121730688-121730999	K562	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
39	CTCF	chr4:121730740-121730890	GM12875	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
40	CTCF	chr4:121730740-121730890	HBMEC	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
41	CTCF	chr4:121730740-121730890	GM12864	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
42	CTCF	chr4:121730760-121730910	AG10803	skin:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
43	CTCF	chr4:121730720-121730870	K562	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
44	CTCF	chr4:121730900-121731050	NHLF	lung:	n/a	n/a
45	CTCF	chr4:121730720-121730870	NHDF-neo	bronchial:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
46	CTCF	chr4:121730780-121730930	HPAF	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
47	CTCF	chr4:121730809-121730874	GM13977	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
48	CTCF	chr4:121730760-121730910	GM12867	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
49	CTCF	chr4:121730720-121730870	HL-60	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
50	CTCF	chr4:121730840-121730990	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121396849..121398573-chr4:121700140..121702182,2	K562	blood:

Variant related genes	Relation type
PRDM5	TF binding region
RNU6-550P	TF binding region

Extended variants
information (count: 1717 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1717 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3804162	chr4:121697932-121697933	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112487677	chr4:121697943-121697944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540882376	chr4:121698006-121698007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531723085	chr4:121698140-121698141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189668187	chr4:121698170-121698171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3804163	chr4:121698199-121698200	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529213518	chr4:121698220-121698221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142408047	chr4:121698252-121698253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553916281	chr4:121698263-121698264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113580276	chr4:121698339-121698340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181473034	chr4:121698353-121698354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373140800	chr4:121698373-121698374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536473373	chr4:121698402-121698403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373558341	chr4:121698462-121698463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556433890	chr4:121698489-121698490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72921539	chr4:121698494-121698495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548997492	chr4:121698590-121698591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544946756	chr4:121698614-121698615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1511302	chr4:121698622-121698623	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76835364	chr4:121698728-121698729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539956800	chr4:121698790-121698791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186212349	chr4:121698799-121698800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560999696	chr4:121698809-121698810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115757257	chr4:121698812-121698813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113108832	chr4:121698921-121698922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559952089	chr4:121698976-121698977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563536183	chr4:121699030-121699031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532310509	chr4:121699170-121699171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138886664	chr4:121699229-121699230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550492105	chr4:121699232-121699233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3827583	chr4:121699254-121699255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34310491	chr4:121699263-121699264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149442776	chr4:121699280-121699281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192020424	chr4:121699289-121699290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539257960	chr4:121699313-121699314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28622073	chr4:121699334-121699335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144827084	chr4:121699357-121699358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183328155	chr4:121699411-121699412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3804164	chr4:121699510-121699511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75455733	chr4:121699514-121699515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558492811	chr4:121699530-121699531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139911323	chr4:121699550-121699551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143852468	chr4:121699586-121699587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368831523	chr4:121699608-121699609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3804165	chr4:121699639-121699640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575410469	chr4:121699646-121699647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77756036	chr4:121699690-121699691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189235650	chr4:121699725-121699726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368032904	chr4:121699730-121699731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140881349	chr4:121699796-121699797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
2	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
3	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
4	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
5	chr4:121673000-121705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:121673000-121722400	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:121677000-121702800	Weak transcription	Gastric	stomach
9	chr4:121677000-121707800	Weak transcription	Psoas Muscle	Psoas
10	chr4:121677200-121714000	Weak transcription	Fetal Intestine Large	intestine
11	chr4:121677200-121723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:121679600-121721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:121686000-121705200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:121689800-121703000	Weak transcription	Brain Angular Gyrus	brain
15	chr4:121690600-121715800	Weak transcription	Lung	lung
16	chr4:121690600-121719600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:121690600-121728800	Weak transcription	Fetal Intestine Small	intestine
18	chr4:121691200-121705400	Weak transcription	HSMM	muscle
19	chr4:121691200-121722200	Weak transcription	Ovary	ovary
20	chr4:121693400-121698000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr4:121693400-121703600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:121695800-121730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:121696400-121698200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr4:121697000-121698200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:121697200-121706200	Weak transcription	Pancreas	Pancrea
26	chr4:121697800-121699200	Enhancers	Fetal Lung	lung
27	chr4:121698200-121701800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:121698200-121705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:121699200-121728200	Weak transcription	Fetal Lung	lung
30	chr4:121701000-121703000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:121701200-121702600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:121701400-121707800	Weak transcription	Small Intestine	intestine
33	chr4:121701800-121703000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:121702800-121703000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:121702800-121703000	Enhancers	Gastric	stomach
36	chr4:121702800-121722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:121703000-121704400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:121703000-121712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:121703200-121704200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:121703600-121704000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:121703600-121704200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:121703600-121704400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:121703800-121704400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:121704200-121704600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:121704200-121706600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:121704400-121704800	Enhancers	Adipose Nuclei	Adipose
47	chr4:121704400-121714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:121704400-121715000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:121704400-121724600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:121704600-121705400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links