Variant report

Variant	esv2762467
Chromosome Location	chr4:143412932-143420262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143413858..143417605-chr4:143417638..143420686,5	MCF-7	breast:
2	chr4:143420095..143422300-chr4:143536470..143540708,3	MCF-7	breast:
3	chr4:143406582..143409502-chr4:143418900..143421549,4	MCF-7	breast:
4	chr4:143418608..143422972-chr4:143431546..143435258,5	MCF-7	breast:
5	chr4:143413858..143417605-chr4:143417638..143420686,5	MCF-7	breast:
6	chr4:143388381..143398737-chr4:143415738..143428678,26	MCF-7	breast:
7	chr4:143377636..143380466-chr4:143419571..143421151,2	MCF-7	breast:
8	chr4:143417636..143419630-chr4:143766878..143768901,2	MCF-7	breast:
9	chr4:143392241..143398966-chr4:143412985..143424496,30	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109452	chromatin interactions

Extended variants
information (count: 280 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs976563	chr4:143412932-143412933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375474995	chr4:143412971-143412972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112217221	chr4:143412987-143412988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138048557	chr4:143413008-143413009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143624463	chr4:143413085-143413086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539182490	chr4:143413088-143413089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553987391	chr4:143413103-143413104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572301251	chr4:143413131-143413132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542906736	chr4:143413181-143413182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561046648	chr4:143413215-143413216	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147229101	chr4:143413256-143413257	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543043311	chr4:143413277-143413278	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138885340	chr4:143413310-143413311	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77815447	chr4:143413327-143413328	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532058780	chr4:143413352-143413353	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200932947	chr4:143413353-143413354	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551187979	chr4:143413426-143413427	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560279295	chr4:143413431-143413432	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527902786	chr4:143413435-143413436	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549220092	chr4:143413455-143413456	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567874888	chr4:143413460-143413461	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538570211	chr4:143413504-143413505	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372520663	chr4:143413513-143413514	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367866939	chr4:143413514-143413515	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369586791	chr4:143413531-143413532	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549903395	chr4:143413564-143413565	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571642455	chr4:143413569-143413570	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539119222	chr4:143413605-143413606	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554320099	chr4:143413628-143413629	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200028567	chr4:143413629-143413630	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191857047	chr4:143413650-143413651	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536451810	chr4:143413666-143413667	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554806086	chr4:143413775-143413776	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576256600	chr4:143413786-143413787	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182202538	chr4:143413800-143413801	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564714101	chr4:143413810-143413811	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576445500	chr4:143413817-143413818	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142698148	chr4:143413832-143413833	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs57320221	chr4:143413853-143413854	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554832435	chr4:143413973-143413974	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559026532	chr4:143414010-143414011	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144426218	chr4:143414059-143414060	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527839608	chr4:143414067-143414068	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs117820883	chr4:143414068-143414069	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148433990	chr4:143414144-143414145	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142583429	chr4:143414150-143414151	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376822066	chr4:143414157-143414158	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571631132	chr4:143414176-143414177	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150530833	chr4:143414229-143414230	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547862506	chr4:143414260-143414261	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143397400-143414800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143401800-143418600	Weak transcription	Fetal Heart	heart
3	chr4:143410400-143414800	Weak transcription	HMEC	breast
4	chr4:143413200-143415400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:143413800-143414000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:143414000-143414200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:143414200-143414800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:143414600-143415200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:143414600-143416200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:143414800-143415000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:143414800-143415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:143414800-143415400	Enhancers	HMEC	breast
13	chr4:143415000-143415200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:143415400-143419000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:143418000-143418200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:143418000-143418400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:143418400-143419000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:143418400-143419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:143418600-143419200	Enhancers	Fetal Heart	heart
20	chr4:143419000-143419200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:143419200-143421200	Weak transcription	Fetal Heart	heart
22	chr4:143419600-143419800	Enhancers	Ovary	ovary
23	chr4:143419800-143420000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:143420000-143421000	Weak transcription	Ovary	ovary
25	chr4:143420200-143420400	Enhancers	Stomach Mucosa	stomach

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