Variant report

Variant	esv1007920
Chromosome Location	chr2:187427312-187437824
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187411689..187413817-chr2:187434858..187437606,2	MCF-7	breast:
2	chr2:187432930..187434820-chr2:187437011..187439461,2	MCF-7	breast:
3	chr2:187370870..187374778-chr2:187436583..187438876,3	MCF-7	breast:
4	chr2:187437479..187442784-chr2:187443924..187447436,6	MCF-7	breast:
5	chr2:187435611..187437376-chr2:187439116..187441984,2	MCF-7	breast:
6	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
7	chr2:187433275..187435459-chr2:187454415..187456337,2	MCF-7	breast:
8	chr2:187350081..187352556-chr2:187433116..187434911,2	MCF-7	breast:
9	chr2:187433203..187436265-chr2:187453472..187457114,4	K562	blood:
10	chr2:187414378..187416859-chr2:187424448..187427803,3	K562	blood:
11	chr2:187432930..187434820-chr2:187437011..187439461,2	MCF-7	breast:
12	chr2:187435550..187437375-chr2:187442844..187445371,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138448	chromatin interactions
ENSG00000065548	chromatin interactions

Extended variants
information (count: 359 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572877117	chr2:187427375-187427376	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540192663	chr2:187427430-187427431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182938142	chr2:187427432-187427433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565005319	chr2:187427484-187427485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570263316	chr2:187427519-187427520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537716949	chr2:187427535-187427536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188587620	chr2:187427591-187427592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570887418	chr2:187427618-187427619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544282098	chr2:187427640-187427641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535000142	chr2:187427678-187427679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1839879	chr2:187427732-187427733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199635818	chr2:187427752-187427753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200422497	chr2:187427753-187427754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574871121	chr2:187427806-187427807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200640341	chr2:187427820-187427821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536059423	chr2:187427833-187427834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145962877	chr2:187427864-187427865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35344702	chr2:187427911-187427912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576271126	chr2:187428002-187428003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139139713	chr2:187428050-187428051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563622003	chr2:187428091-187428092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543671196	chr2:187428096-187428097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4667106	chr2:187428110-187428111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs576473415	chr2:187428165-187428166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193262396	chr2:187428230-187428231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143817569	chr2:187428255-187428256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1597186	chr2:187428276-187428277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566390308	chr2:187428316-187428317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183423256	chr2:187428329-187428330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187350916	chr2:187428405-187428406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563879533	chr2:187428410-187428411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34687118	chr2:187428504-187428505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527695256	chr2:187428528-187428529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552938219	chr2:187428559-187428560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115769742	chr2:187428618-187428619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570802007	chr2:187428741-187428742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528541441	chr2:187428793-187428794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192206784	chr2:187428869-187428870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183911271	chr2:187428921-187428922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537987650	chr2:187428976-187428977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548456232	chr2:187428999-187429000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141690141	chr2:187429006-187429007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372799153	chr2:187429049-187429050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554486305	chr2:187429051-187429052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189896998	chr2:187429053-187429054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377711742	chr2:187429089-187429090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536841683	chr2:187429098-187429099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1839120	chr2:187429108-187429109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113322208	chr2:187429156-187429157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576681504	chr2:187429223-187429224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187420200-187434800	Weak transcription	NHEK	skin
2	chr2:187426200-187427400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:187426400-187427600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:187426600-187441200	Weak transcription	Aorta	Aorta
5	chr2:187427200-187429000	Weak transcription	HepG2	liver
6	chr2:187431000-187433600	Weak transcription	HepG2	liver
7	chr2:187433400-187434400	Weak transcription	A549	lung
8	chr2:187433600-187434600	Enhancers	HepG2	liver
9	chr2:187434400-187434600	Enhancers	A549	lung
10	chr2:187434400-187436200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:187434600-187434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:187434600-187435000	Flanking Active TSS	HepG2	liver
13	chr2:187434600-187435200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:187434600-187435400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:187434600-187435400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:187434600-187435400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:187434600-187435600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:187434600-187435800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:187434600-187435800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:187434600-187435800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:187434600-187435800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:187434600-187435800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:187434600-187435800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:187434600-187435800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:187434600-187435800	Enhancers	HUVEC	blood vessel
26	chr2:187434600-187435800	Enhancers	K562	blood
27	chr2:187434600-187435800	Enhancers	NH-A	brain
28	chr2:187434600-187436000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:187434600-187436000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:187434600-187436000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:187434600-187436000	Enhancers	Osteobl	bone
32	chr2:187434600-187436200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:187434600-187436200	Flanking Active TSS	A549	lung
34	chr2:187434600-187436400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:187434600-187436400	Enhancers	Hela-S3	cervix
36	chr2:187434600-187436800	Enhancers	Stomach Mucosa	stomach
37	chr2:187434800-187435200	Enhancers	HSMMtube	muscle
38	chr2:187434800-187435400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:187434800-187435400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:187434800-187435400	Enhancers	Fetal Intestine Small	intestine
41	chr2:187434800-187435600	Enhancers	Fetal Brain Male	brain
42	chr2:187434800-187435600	Enhancers	Placenta	Placenta
43	chr2:187434800-187435800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:187434800-187435800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:187434800-187435800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:187434800-187436000	Enhancers	Fetal Kidney	kidney
47	chr2:187434800-187436000	Enhancers	HMEC	breast
48	chr2:187434800-187438200	Enhancers	NHEK	skin
49	chr2:187435000-187435200	Enhancers	HSMM	muscle
50	chr2:187435000-187435400	Enhancers	Duodenum Mucosa	Duodenum

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