Variant report

Variant	esv3693425
Chromosome Location	chr2:142184803-142239599
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142223533..142226548-chr2:142266133..142269163,3	MCF-7	breast:
2	chr2:142217841..142219887-chr2:142221118..142223354,2	K562	blood:
3	chr2:142189797..142191376-chr2:142887481..142889712,2	MCF-7	breast:
4	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:
5	chr2:142186559..142188286-chr2:142189244..142191803,2	MCF-7	breast:
6	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:
7	chr2:142219246..142221471-chr2:142222872..142224953,3	MCF-7	breast:
8	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:
9	chr2:142219246..142221471-chr2:142222872..142224953,3	MCF-7	breast:
10	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:
11	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:
12	chr2:142217841..142219887-chr2:142221118..142223354,2	K562	blood:
13	chr2:142186559..142188286-chr2:142189244..142191803,2	MCF-7	breast:
14	chr2:142176781..142180982-chr2:142186884..142191096,4	MCF-7	breast:
15	chr2:142225007..142227143-chr2:142273674..142276575,2	MCF-7	breast:
16	chr2:142223846..142226689-chr2:142887518..142889461,2	MCF-7	breast:
17	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 1829 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1829 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4277466	chr2:142189830-142189831	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533129644	chr2:142189836-142189837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547417760	chr2:142189852-142189853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567320476	chr2:142189853-142189854	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372942465	chr2:142189881-142189882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556629954	chr2:142189894-142189895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576412935	chr2:142189992-142189993	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538849500	chr2:142190025-142190026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558751108	chr2:142190051-142190052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146633463	chr2:142190099-142190100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75364421	chr2:142190114-142190115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560905584	chr2:142190117-142190118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111689282	chr2:142190128-142190129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139001385	chr2:142190170-142190171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140243420	chr2:142190171-142190172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74364907	chr2:142190174-142190175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77533387	chr2:142190175-142190176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199571892	chr2:142190178-142190179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148810303	chr2:142190211-142190212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142459988	chr2:142190225-142190226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75764074	chr2:142190288-142190289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184586530	chr2:142190291-142190292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565117776	chr2:142190323-142190324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528027791	chr2:142190334-142190335	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547677162	chr2:142190351-142190352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200275807	chr2:142190361-142190362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567582339	chr2:142190363-142190364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200974119	chr2:142190372-142190373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539919444	chr2:142190375-142190376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530109373	chr2:142190379-142190380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549879088	chr2:142190399-142190400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199926843	chr2:142190414-142190415	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570150450	chr2:142190425-142190426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538743966	chr2:142190428-142190429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558832770	chr2:142190459-142190460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10199890	chr2:142190468-142190469	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187913410	chr2:142190519-142190520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151290433	chr2:142190520-142190521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574614754	chr2:142190566-142190567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs4300778	chr2:142190573-142190574	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191828881	chr2:142190587-142190588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553529879	chr2:142190599-142190600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111790056	chr2:142190653-142190654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150106155	chr2:142190668-142190669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147804652	chr2:142190674-142190675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565180842	chr2:142190687-142190688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113410575	chr2:142190709-142190710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561647902	chr2:142190748-142190749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62167992	chr2:142190757-142190758	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557795611	chr2:142190759-142190760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142194400-142194800	Enhancers	Brain Substantia Nigra	brain
2	chr2:142194800-142195600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:142195600-142196400	Enhancers	Brain Hippocampus Middle	brain
4	chr2:142195600-142196400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:142195600-142196400	Enhancers	Brain Substantia Nigra	brain
6	chr2:142196400-142197600	Enhancers	NH-A	brain
7	chr2:142196400-142199200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:142196600-142205800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:142205000-142205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:142205200-142206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:142205400-142206400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:142205800-142206200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:142205800-142206400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:142205800-142206800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:142206000-142206400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:142206200-142206600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:142206400-142208200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:142206600-142207000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:142206600-142212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:142206800-142212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:142207000-142212200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:142212000-142212200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:142212200-142212400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:142212200-142213200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:142212200-142213800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:142212400-142212600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:142212400-142213200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:142212600-142213400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:142212600-142213800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:142212600-142213800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:142212600-142213800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:142212800-142213800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:142212800-142214200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:142213000-142213800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:142213000-142213800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:142213200-142213400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr2:142213200-142213800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:142213200-142213800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:142213200-142214000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:142213400-142213800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr2:142213400-142213800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:142213600-142213800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:142213800-142214200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr2:142213800-142215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:142217200-142217400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:142220600-142221000	Enhancers	Brain Angular Gyrus	brain
47	chr2:142221600-142221800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:142221800-142225800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:142225000-142226000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr2:142225000-142227000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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