Variant report

Variant	esv3402547
Chromosome Location	chr2:179181256-179183354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr2:179181197-179181327	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr2:179182804-179182811	GM12878	blood:	n/a	n/a
3	MXI1	chr2:179181709-179181750	K562	blood:	n/a	n/a
4	POLR2A	chr2:179182878-179182959	ProgFib	skin:	n/a	n/a
5	RFX5	chr2:179181802-179181826	K562	blood:	n/a	n/a
6	RFX5	chr2:179181341-179181376	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179175553..179178378-chr2:179180184..179181905,2	K562	blood:
2	chr2:179174805..179177159-chr2:179180996..179182677,2	MCF-7	breast:
3	chr2:179182101..179184343-chr2:179194524..179196984,2	K562	blood:
4	chr2:179173279..179175264-chr2:179179066..179181987,2	K562	blood:

No data

Variant related genes	Relation type
OSBPL6	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4894007	chr2:179181257-179181258	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547176960	chr2:179181283-179181284	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565601323	chr2:179181308-179181309	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs534405406	chr2:179181313-179181314	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201332508	chr2:179181320-179181321	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557479909	chr2:179181328-179181329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190584287	chr2:179181346-179181347	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs182237826	chr2:179181349-179181350	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556941563	chr2:179181350-179181351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs4893851	chr2:179181425-179181426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542417126	chr2:179181433-179181434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370242471	chr2:179181440-179181441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572999865	chr2:179181443-179181444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545495183	chr2:179181450-179181451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370412589	chr2:179181457-179181458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184329055	chr2:179181464-179181465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189089614	chr2:179181588-179181589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7573288	chr2:179181600-179181601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372611623	chr2:179181608-179181609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4894008	chr2:179181622-179181623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576504186	chr2:179181741-179181742	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs34971056	chr2:179181785-179181786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181571678	chr2:179181806-179181807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs547022701	chr2:179181863-179181864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560735327	chr2:179182005-179182006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185270095	chr2:179182023-179182024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4894009	chr2:179182109-179182110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571027026	chr2:179182110-179182111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200443448	chr2:179182165-179182166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58865067	chr2:179182192-179182193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60762666	chr2:179182196-179182197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57163886	chr2:179182202-179182203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552681762	chr2:179182209-179182210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200253955	chr2:179182214-179182215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536622066	chr2:179182363-179182364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550554403	chr2:179182369-179182370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567190939	chr2:179182450-179182451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543275382	chr2:179182494-179182495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532418702	chr2:179182544-179182545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553019389	chr2:179182557-179182558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541307602	chr2:179182587-179182588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs993598	chr2:179182695-179182696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs368491931	chr2:179182707-179182708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13398164	chr2:179182733-179182734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs191260503	chr2:179182794-179182795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544579341	chr2:179182849-179182850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530336526	chr2:179182931-179182932	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs180738062	chr2:179182933-179182934	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186088150	chr2:179182945-179182946	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs574787771	chr2:179182954-179182955	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:179160200-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
4	chr2:179171600-179182000	Weak transcription	HSMM	muscle
5	chr2:179176200-179198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:179176400-179183400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:179180400-179183200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:179180600-179183400	Weak transcription	Psoas Muscle	Psoas
9	chr2:179180600-179183600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:179180600-179184000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:179180800-179182800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:179180800-179184400	Weak transcription	Liver	Liver
13	chr2:179181000-179188600	Weak transcription	K562	blood
14	chr2:179182400-179184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:179182400-179185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:179182600-179183800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:179182800-179183400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:179182800-179183600	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:179183200-179183800	Enhancers	Skeletal Muscle Female	skeletal muscle

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