Variant report

Variant	esv274865
Chromosome Location	chr4:148779449-148782064
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	POLR2A	chr4:148780955-148781155	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148757037..148759184-chr4:148779427..148781406,2	MCF-7	breast:
2	chr4:148773944..148776670-chr4:148779781..148781612,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP10	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182575411	chr4:148779490-148779491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75220338	chr4:148779495-148779496	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs398083620	chr4:148779502-148779503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397881300	chr4:148779503-148779504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10023057	chr4:148779548-148779549	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs368669859	chr4:148779551-148779552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572247928	chr4:148779557-148779558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371816052	chr4:148779581-148779582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545714538	chr4:148779612-148779613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551327866	chr4:148779737-148779738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571585591	chr4:148779770-148779771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576726202	chr4:148779805-148779806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547620582	chr4:148779888-148779889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7654433	chr4:148779893-148779894	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs185953999	chr4:148779940-148779941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10025684	chr4:148779974-148779975	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138717577	chr4:148779980-148779981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190848785	chr4:148780004-148780005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530415573	chr4:148780121-148780122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558567722	chr4:148780143-148780144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182615433	chr4:148780146-148780147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543357479	chr4:148780270-148780271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548641008	chr4:148780316-148780317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541112950	chr4:148780356-148780357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561535171	chr4:148780372-148780373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34375248	chr4:148780425-148780426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397703561	chr4:148780440-148780441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554328458	chr4:148780446-148780447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528894368	chr4:148780462-148780463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574479187	chr4:148780493-148780494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115281340	chr4:148780503-148780504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547678837	chr4:148780527-148780528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532257573	chr4:148780615-148780616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188129870	chr4:148780624-148780625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190328051	chr4:148780660-148780661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565277318	chr4:148780661-148780662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527723799	chr4:148780662-148780663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547777026	chr4:148780663-148780664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7664567	chr4:148780729-148780730	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs112959028	chr4:148780763-148780764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530236883	chr4:148780766-148780767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111714288	chr4:148780774-148780775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1469868	chr4:148780791-148780792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550385093	chr4:148780838-148780839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570291948	chr4:148780844-148780845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533318663	chr4:148780922-148780923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539338664	chr4:148780988-148780989	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs552946444	chr4:148780994-148780995	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs566373518	chr4:148781023-148781024	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534276536	chr4:148781037-148781038	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
2	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:148753400-148782000	Weak transcription	Gastric	stomach
4	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:148764400-148786000	Weak transcription	NH-A	brain
6	chr4:148764400-148787000	Weak transcription	NHEK	skin
7	chr4:148764600-148787800	Weak transcription	HMEC	breast
8	chr4:148766200-148782000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:148768200-148782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:148768400-148781000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
15	chr4:148769000-148782200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:148769600-148782000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:148769600-148782200	Weak transcription	Pancreas	Pancrea
18	chr4:148769600-148782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:148770000-148782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:148770200-148781600	Weak transcription	Adipose Nuclei	Adipose
21	chr4:148770200-148781800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
23	chr4:148771800-148782000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:148771800-148782200	Weak transcription	Lung	lung
25	chr4:148772000-148782200	Weak transcription	Fetal Intestine Small	intestine
26	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
27	chr4:148772200-148782000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:148772400-148785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:148772600-148782200	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:148772600-148782400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:148773000-148782200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:148773600-148782200	Weak transcription	Aorta	Aorta
33	chr4:148773600-148782200	Weak transcription	Esophagus	oesophagus
34	chr4:148773600-148782200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:148774000-148782200	Weak transcription	Left Ventricle	heart
36	chr4:148774400-148782200	Weak transcription	Right Atrium	heart
37	chr4:148775600-148782000	Weak transcription	Psoas Muscle	Psoas
38	chr4:148776200-148782000	Weak transcription	Right Ventricle	heart
39	chr4:148776200-148782200	Weak transcription	NHLF	lung
40	chr4:148776400-148782000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:148776400-148782000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:148776400-148782200	Weak transcription	Fetal Stomach	stomach
43	chr4:148776400-148787200	Weak transcription	Brain Hippocampus Middle	brain
44	chr4:148776600-148782000	Weak transcription	NHDF-Ad	bronchial
45	chr4:148776600-148782200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:148777000-148780000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:148777000-148782200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:148777000-148782200	Weak transcription	Ovary	ovary
49	chr4:148777000-148796200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine

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