Variant report

Variant	nsv594969
Chromosome Location	chr4:103781574-103783412
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	CCNT2	chr4:103782119-103782224	K562	blood:	n/a	n/a
2	CTCF	chr4:103781960-103782110	WERI-Rb-1	eye:	n/a	n/a
3	E2F6	chr4:103782194-103782326	K562	blood:	n/a	n/a
4	GATA1	chr4:103781676-103782280	PBDE	blood:	n/a	n/a
5	POLR2A	chr4:103781708-103781959	K562	blood:	n/a	n/a
6	SPI1	chr4:103783264-103783417	K562	blood:	n/a	chr4:103783394-103783407 chr4:103783382-103783391 chr4:103783380-103783393 chr4:103783337-103783344 chr4:103783395-103783408 chr4:103783336-103783345 chr4:103783334-103783347 chr4:103783397-103783406
7	SPI1	chr4:103783093-103783535	HL-60	blood:	n/a	chr4:103783394-103783407 chr4:103783382-103783391 chr4:103783380-103783393 chr4:103783337-103783344 chr4:103783395-103783408 chr4:103783336-103783345 chr4:103783334-103783347 chr4:103783397-103783406
8	SPI1	chr4:103783061-103783616	HL-60	blood:	n/a	chr4:103783394-103783407 chr4:103783382-103783391 chr4:103783380-103783393 chr4:103783337-103783344 chr4:103783395-103783408 chr4:103783336-103783345 chr4:103783334-103783347 chr4:103783397-103783406

No.	Distal block	Cell Line	Cell type
1	chr4:103781973..103785521-chr4:103788128..103792048,4	MCF-7	breast:
2	chr4:103775754..103778384-chr4:103782833..103785617,2	MCF-7	breast:
3	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:
4	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
5	chr4:103746438..103750337-chr4:103782400..103786138,6	MCF-7	breast:
6	chr4:103757925..103760228-chr4:103782951..103785960,3	K562	blood:
7	chr4:103782723..103785636-chr4:103787155..103789919,2	MCF-7	breast:
8	chr4:103782734..103784847-chr4:103785870..103787705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238948	TF binding region
ENSG00000145354	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000252739	chromatin interactions
ENSG00000109332	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs644930	chr4:103781574-103781575	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570591639	chr4:103781575-103781576	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557442913	chr4:103781579-103781580	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs397834892	chr4:103781580-103781581	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111665603	chr4:103781582-103781583	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs199981474	chr4:103781585-103781586	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2978640	chr4:103781586-103781587	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188834437	chr4:103781641-103781642	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368222837	chr4:103781687-103781688	Strong transcription Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs60527954	chr4:103781709-103781710	Strong transcription Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs540226884	chr4:103781735-103781736	Strong transcription Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs564987352	chr4:103781796-103781797	Strong transcription Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs372805631	chr4:103781825-103781826	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs550888995	chr4:103781858-103781859	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs367751435	chr4:103781870-103781871	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs180796635	chr4:103781906-103781907	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs185413185	chr4:103781994-103781995	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs529869043	chr4:103781997-103781998	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs558601772	chr4:103782016-103782017	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs548084073	chr4:103782042-103782043	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs368696005	chr4:103782059-103782060	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs576746018	chr4:103782150-103782151	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs115107681	chr4:103782151-103782152	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs190860490	chr4:103782196-103782197	Strong transcription ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs540774413	chr4:103782207-103782208	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs559361280	chr4:103782244-103782245	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs139341636	chr4:103782282-103782283	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs150015748	chr4:103782294-103782295	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs541623329	chr4:103782347-103782348	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs557605372	chr4:103782386-103782387	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs563269503	chr4:103782429-103782430	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs147701117	chr4:103782436-103782437	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs528102224	chr4:103782602-103782603	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs142416604	chr4:103782603-103782604	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs554783168	chr4:103782610-103782611	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs573001009	chr4:103782620-103782621	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs540357813	chr4:103782700-103782701	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558515365	chr4:103782707-103782708	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs182240851	chr4:103782722-103782723	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs544299649	chr4:103782727-103782728	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs76567794	chr4:103782728-103782729	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs372338560	chr4:103782762-103782763	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs529953386	chr4:103782784-103782785	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs542035932	chr4:103782794-103782795	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs74855098	chr4:103782806-103782807	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs147864202	chr4:103782813-103782814	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs552335607	chr4:103782907-103782908	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs570583799	chr4:103782911-103782912	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs17033363	chr4:103782963-103782964	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs547583069	chr4:103783008-103783009	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103750800-103788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:103765000-103783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:103765400-103788800	Weak transcription	Left Ventricle	heart
4	chr4:103768600-103781800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:103779000-103787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:103780000-103782000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr4:103780000-103788000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:103780200-103782200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:103780200-103782800	ZNF genes & repeats	Dnd41	blood
10	chr4:103780200-103789200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:103780400-103788800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:103780800-103788000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:103781000-103783000	Weak transcription	Brain Angular Gyrus	brain
14	chr4:103781000-103785000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:103781000-103788800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:103781000-103789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:103781200-103785800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:103781200-103788600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:103781400-103781800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:103781400-103782200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr4:103781400-103782400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr4:103781400-103782600	ZNF genes & repeats	Fetal Stomach	stomach
23	chr4:103781600-103781800	Active TSS	Fetal Brain Male	brain
24	chr4:103781600-103782200	ZNF genes & repeats	Liver	Liver
25	chr4:103781600-103782200	ZNF genes & repeats	Fetal Thymus	thymus
26	chr4:103781600-103782400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr4:103781600-103782400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:103781600-103782400	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr4:103781600-103782400	ZNF genes & repeats	GM12878-XiMat	blood
30	chr4:103781600-103783400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:103781800-103782000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:103781800-103782200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:103781800-103782200	ZNF genes & repeats	Aorta	Aorta
34	chr4:103781800-103782200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr4:103781800-103782200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr4:103781800-103782400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:103781800-103782400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr4:103781800-103782400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:103781800-103782400	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr4:103781800-103782600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:103781800-103783400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:103781800-103784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:103781800-103788000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:103781800-103789600	Weak transcription	Fetal Brain Male	brain
45	chr4:103782000-103782200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:103782000-103783000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr4:103782000-103788000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:103782200-103782400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr4:103782200-103782400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:103782200-103782400	Enhancers	Aorta	Aorta

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