Variant report

Variant	esv2602939
Chromosome Location	chr4:102247164-102248757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102244312..102246286-chr4:102248183..102250301,2	K562	blood:
2	chr4:102248729..102250846-chr4:102268529..102271038,2	K562	blood:
3	chr4:102242973..102245664-chr4:102246576..102249048,2	MCF-7	breast:
4	chr4:102238335..102240230-chr4:102246275..102248377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254531	chromatin interactions
ENSG00000138814	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 74 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147831846	chr4:102247175-102247176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2850372	chr4:102247191-102247192	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs541000911	chr4:102247197-102247198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553017315	chr4:102247210-102247211	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577836739	chr4:102247211-102247212	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7664396	chr4:102247217-102247218	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6820863	chr4:102247241-102247242	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530719988	chr4:102247254-102247255	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6532925	chr4:102247272-102247273	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376764561	chr4:102247304-102247305	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562194604	chr4:102247337-102247338	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575146317	chr4:102247347-102247348	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368604776	chr4:102247438-102247439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547740979	chr4:102247466-102247467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375545321	chr4:102247566-102247567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566253057	chr4:102247586-102247587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533401086	chr4:102247611-102247612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180812318	chr4:102247676-102247677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62322612	chr4:102247677-102247678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs371877817	chr4:102247704-102247705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149020721	chr4:102247731-102247732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548834957	chr4:102247784-102247785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184149643	chr4:102247823-102247824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189851940	chr4:102247870-102247871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528246777	chr4:102247910-102247911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540470553	chr4:102247924-102247925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552889936	chr4:102247940-102247941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374926696	chr4:102247980-102247981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143032148	chr4:102247994-102247995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181128567	chr4:102248013-102248014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1011849	chr4:102248031-102248032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575542948	chr4:102248061-102248062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148157511	chr4:102248089-102248090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562062389	chr4:102248093-102248094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371333117	chr4:102248147-102248148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35798910	chr4:102248246-102248247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574044156	chr4:102248279-102248280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187028265	chr4:102248300-102248301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559744457	chr4:102248310-102248311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191458308	chr4:102248336-102248337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141109171	chr4:102248362-102248363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1561722	chr4:102248391-102248392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531033228	chr4:102248409-102248410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181998360	chr4:102248410-102248411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145096539	chr4:102248418-102248419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138979867	chr4:102248458-102248459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546372990	chr4:102248581-102248582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571301765	chr4:102248634-102248635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567368243	chr4:102248665-102248666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538622426	chr4:102248750-102248751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Hirschsprung''s Disease	21712996	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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102228200-102249400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:102228200-102250400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:102228600-102247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:102237400-102247200	Weak transcription	Primary T cells from cord blood	blood
5	chr4:102243200-102247600	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:102243200-102249200	Weak transcription	Adipose Nuclei	Adipose
7	chr4:102243200-102249200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:102243200-102251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:102243200-102251800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:102243400-102251000	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:102243400-102252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:102243400-102256000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:102243600-102247600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:102243600-102247600	Weak transcription	Brain Anterior Caudate	brain
15	chr4:102243600-102247800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:102243600-102251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:102243600-102256800	Weak transcription	Aorta	Aorta
18	chr4:102243800-102248800	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:102244000-102258000	Weak transcription	Brain Angular Gyrus	brain
20	chr4:102244400-102248600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:102244800-102247400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:102244800-102247800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:102244800-102248800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:102245000-102248000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:102245400-102251200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:102245400-102251600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:102245600-102249200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:102245600-102251800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:102245600-102252800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:102245600-102255000	Weak transcription	Ovary	ovary
31	chr4:102245800-102247200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:102245800-102248000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:102245800-102252000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:102246000-102247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:102246000-102247800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:102246200-102247600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:102246200-102247800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:102246400-102249600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:102246600-102247600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:102246800-102247800	Enhancers	Primary B cells from cord blood	blood
41	chr4:102246800-102249400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:102247000-102247200	Enhancers	Psoas Muscle	Psoas
43	chr4:102247000-102247400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:102247000-102247800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:102247200-102247400	Genic enhancers	Psoas Muscle	Psoas
46	chr4:102247200-102249000	Enhancers	Primary T cells from cord blood	blood
47	chr4:102247200-102251000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr4:102247400-102249200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:102247400-102249200	Weak transcription	Psoas Muscle	Psoas
50	chr4:102247400-102251600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links