Variant report

Variant	esv1849248
Chromosome Location	chr4:107000462-107062671
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:107037209..107040065-chr4:107046985..107049286,2	K562	blood:
2	chr4:107000720..107002870-chr4:107005901..107008806,2	MCF-7	breast:
3	chr4:106629937..106631659-chr4:107051139..107052653,2	MCF-7	breast:
4	chr4:107023929..107026888-chr4:107039825..107042203,2	K562	blood:
5	chr4:107023929..107026888-chr4:107039825..107042203,2	K562	blood:
6	chr4:106817148..106819269-chr4:107039233..107040831,3	MCF-7	breast:
7	chr4:107000720..107002870-chr4:107005901..107008806,2	MCF-7	breast:
8	chr4:107037209..107040065-chr4:107046985..107049286,2	K562	blood:
9	chr4:107057719..107060245-chr4:107065228..107066927,2	K562	blood:
10	chr2:101487184..101487847-chr4:107019665..107020665,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138780	chromatin interactions
ENSG00000138785	chromatin interactions
ENSG00000168743	chromatin interactions

Extended variants
information (count: 2209 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2209 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11097912	chr4:107000462-107000463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs540020206	chr4:107000501-107000502	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556814141	chr4:107000514-107000515	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576580264	chr4:107000515-107000516	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60782919	chr4:107000569-107000570	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113173751	chr4:107000581-107000582	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562025171	chr4:107000640-107000641	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572395681	chr4:107000648-107000649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141357457	chr4:107000654-107000655	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560375269	chr4:107000796-107000797	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4533833	chr4:107000830-107000831	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551924777	chr4:107000857-107000858	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76746768	chr4:107000877-107000878	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62320126	chr4:107000904-107000905	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531265597	chr4:107000916-107000917	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547871255	chr4:107001021-107001022	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7689298	chr4:107001025-107001026	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs533756574	chr4:107001029-107001030	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547110611	chr4:107001056-107001057	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189621494	chr4:107001095-107001096	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181952945	chr4:107001100-107001101	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59703105	chr4:107001131-107001132	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113305499	chr4:107001187-107001188	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184738196	chr4:107001228-107001229	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555827123	chr4:107001242-107001243	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572475497	chr4:107001244-107001245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60169642	chr4:107001245-107001246	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564339378	chr4:107001246-107001247	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189163389	chr4:107001317-107001318	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541922682	chr4:107001352-107001353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113225137	chr4:107001369-107001370	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79310985	chr4:107001422-107001423	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562482719	chr4:107001438-107001439	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115179460	chr4:107001447-107001448	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181499939	chr4:107001495-107001496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561804233	chr4:107001562-107001563	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13138818	chr4:107001603-107001604	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547343446	chr4:107001604-107001605	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570357827	chr4:107001649-107001650	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574618727	chr4:107001689-107001690	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540100570	chr4:107001726-107001727	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550488618	chr4:107001730-107001731	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540528812	chr4:107001748-107001749	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570410276	chr4:107001837-107001838	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545874121	chr4:107001928-107001929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186502029	chr4:107001934-107001935	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555719192	chr4:107001955-107001956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576046685	chr4:107001961-107001962	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11932523	chr4:107001980-107001981	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs558090226	chr4:107001986-107001987	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	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
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106984000-107010200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:106985000-107011400	Weak transcription	HepG2	liver
3	chr4:106986800-107002400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:106993000-107008800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:106993200-107010000	Weak transcription	Left Ventricle	heart
6	chr4:106993400-107010400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:106993600-107002400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:106993600-107010000	Weak transcription	Right Ventricle	heart
9	chr4:106993800-107010800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:106994600-107015000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:106994800-107011600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:106995000-107004200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:106995200-107010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:106995200-107011400	Weak transcription	Colonic Mucosa	Colon
15	chr4:106995400-107004000	Weak transcription	Fetal Stomach	stomach
16	chr4:106995400-107004200	Weak transcription	Thymus	Thymus
17	chr4:106995400-107011000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:106995400-107011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:106995600-107010400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:106996000-107010800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:106996200-107003800	Weak transcription	Pancreas	Pancrea
22	chr4:106997200-107031000	Weak transcription	Psoas Muscle	Psoas
23	chr4:106997400-107004000	Weak transcription	Gastric	stomach
24	chr4:106998000-107004400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr4:106998000-107010000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:106998200-107001000	Weak transcription	Esophagus	oesophagus
27	chr4:106998200-107002200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:106998600-107002400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:106998600-107002600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr4:106998600-107004600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:106998600-107010200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:106998600-107010600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:106998600-107010800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:106999000-107002200	Weak transcription	Primary T cells from cord blood	blood
35	chr4:106999000-107002400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:106999000-107002600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:106999000-107004000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:106999000-107011000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:106999000-107011800	Weak transcription	Fetal Heart	heart
40	chr4:106999000-107012000	Weak transcription	NHDF-Ad	bronchial
41	chr4:106999200-107001400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:106999200-107002200	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:106999200-107002400	Weak transcription	Fetal Kidney	kidney
44	chr4:106999200-107010000	Weak transcription	Fetal Brain Male	brain
45	chr4:106999200-107010400	Weak transcription	HSMM	muscle
46	chr4:106999400-107001000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:106999400-107001200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:106999400-107002600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr4:106999400-107002600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:106999400-107004200	Weak transcription	Fetal Muscle Trunk	muscle

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