Variant report

Variant	esv3374790
Chromosome Location	chr4:93959718-94063251
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:94011050..94013417-chr4:94016647..94018231,2	MCF-7	breast:
2	chr4:94040244..94043067-chr4:94045485..94048074,2	K562	blood:
3	chr4:94011050..94013417-chr4:94016647..94018231,2	MCF-7	breast:
4	chr4:93970682..93973329-chr4:93973340..93974971,2	MCF-7	breast:
5	chr4:93970682..93973329-chr4:93973340..93974971,2	MCF-7	breast:
6	chr4:94040244..94043067-chr4:94045485..94048074,2	K562	blood:
7	chr4:93968750..93971596-chr4:93971794..93974511,2	MCF-7	breast:
8	chr4:94003469..94006047-chr4:94006139..94009104,2	K562	blood:
9	chr4:94003469..94006047-chr4:94006139..94009104,2	K562	blood:
10	chr4:94030168..94030688-chr7:58043283..58043804,2	MCF-7	breast:
11	chr4:93968750..93971596-chr4:93971794..93974511,2	MCF-7	breast:

No data

Extended variants
information (count: 3375 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3375 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562455320	chr4:93959737-93959738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577146611	chr4:93959738-93959739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188869729	chr4:93959740-93959741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570890080	chr4:93959756-93959757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528013680	chr4:93959834-93959835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541296692	chr4:93959843-93959844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559535333	chr4:93959874-93959875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181840554	chr4:93959899-93959900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567922106	chr4:93959917-93959918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536455095	chr4:93959918-93959919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187052624	chr4:93959935-93959936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530194817	chr4:93959951-93959952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370980313	chr4:93960037-93960038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141518021	chr4:93960055-93960056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539113441	chr4:93960062-93960063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375661973	chr4:93960090-93960091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559025067	chr4:93960128-93960129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189428419	chr4:93960146-93960147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541384766	chr4:93960149-93960150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553783344	chr4:93960173-93960174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573841720	chr4:93960174-93960175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147519404	chr4:93960187-93960188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562341348	chr4:93960243-93960244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560866582	chr4:93960282-93960283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138527443	chr4:93960374-93960375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544690061	chr4:93960385-93960386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181401432	chr4:93960415-93960416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531429487	chr4:93960437-93960438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527312030	chr4:93960457-93960458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565455116	chr4:93960458-93960459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549839220	chr4:93960461-93960462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547328872	chr4:93960470-93960471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185947276	chr4:93960495-93960496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368358888	chr4:93960531-93960532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549346436	chr4:93960557-93960558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190014831	chr4:93960571-93960572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539198810	chr4:93960610-93960611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552725459	chr4:93960646-93960647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183318242	chr4:93960647-93960648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186527261	chr4:93960670-93960671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554941654	chr4:93960769-93960770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573901928	chr4:93960771-93960772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547673162	chr4:93960777-93960778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555975144	chr4:93960781-93960782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565883312	chr4:93960799-93960800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544778884	chr4:93960818-93960819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564642975	chr4:93960837-93960838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572097477	chr4:93960843-93960844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536102095	chr4:93960864-93960865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191130386	chr4:93960891-93960892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
lymphocytic leukemia	21291569	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	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
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93951200-93961600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93954600-93968600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:93963800-93964600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:93964000-93964400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:93964200-93964800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:93964400-93964800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:93964800-93969200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:93964800-93971400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:93968600-93969200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:93968800-93969400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:93968800-93969400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:93968800-93969600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:93969200-93969600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:93969200-93969600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:93969200-93969600	Enhancers	Brain Anterior Caudate	brain
16	chr4:93969200-93969600	Active TSS	Brain Substantia Nigra	brain
17	chr4:93969200-93969800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:93969200-93969800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:93969200-93970200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:93969200-93971000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:93969400-93969800	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:93969400-93969800	Enhancers	Brain Hippocampus Middle	brain
23	chr4:93969400-93970000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:93969400-93970200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:93969400-93974000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:93969600-93970200	Enhancers	Brain Germinal Matrix	brain
27	chr4:93969600-93970200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:93969600-93970400	Enhancers	Brain Substantia Nigra	brain
29	chr4:93969600-93971000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:93969600-93971400	Weak transcription	Brain Anterior Caudate	brain
31	chr4:93969600-93974200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:93969600-93974200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:93969800-93970000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:93969800-93971000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:93969800-93971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:93969800-93971600	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:93969800-93972000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:93970200-93971000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:93970200-93971000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:93970200-93971200	Weak transcription	Brain Germinal Matrix	brain
41	chr4:93970200-93971800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:93970400-93970800	Weak transcription	Brain Substantia Nigra	brain
43	chr4:93970800-93971600	Enhancers	Brain Substantia Nigra	brain
44	chr4:93971000-93971400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:93971000-93971400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:93971000-93972200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:93971000-93972200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:93971000-93972400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:93971000-93973000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:93971000-93973200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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