Variant report

Variant	esv3378648
Chromosome Location	chr2:47546448-47549746
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47269944..47272346-chr2:47548303..47550473,2	MCF-7	breast:
2	chr2:47212569..47215623-chr2:47548901..47551029,3	K562	blood:
3	chr2:47214229..47214810-chr2:47548565..47549556,2	MCF-7	breast:
4	chr2:47212912..47216047-chr2:47549012..47553411,7	MCF-7	breast:
5	chr2:47542272..47544108-chr2:47546260..47549023,2	MCF-7	breast:
6	chr2:47147988..47149803-chr2:47547062..47549076,2	MCF-7	breast:
7	chr2:47399749..47405177-chr2:47548172..47550676,8	K562	blood:
8	chr2:47213500..47216240-chr2:47548901..47552350,5	K562	blood:
9	chr2:47538622..47541292-chr2:47546118..47547816,2	MCF-7	breast:
10	chr2:47547112..47549558-chr2:47594942..47597072,2	MCF-7	breast:
11	chr2:47397795..47408487-chr2:47544823..47553969,26	MCF-7	breast:
12	chr2:47426470..47429390-chr2:47547719..47550182,2	MCF-7	breast:
13	chr2:47395267..47408439-chr2:47533772..47553038,55	MCF-7	breast:
14	chr2:47499653..47503286-chr2:47546650..47549919,4	MCF-7	breast:
15	chr2:47194294..47196907-chr2:47548954..47551761,2	MCF-7	breast:
16	chr2:47213989..47214766-chr2:47546474..47547462,2	MCF-7	breast:
17	chr2:47381119..47383658-chr2:47547730..47550127,2	MCF-7	breast:
18	chr2:47536098..47538713-chr2:47547950..47550505,2	MCF-7	breast:
19	chr2:47392818..47394891-chr2:47546000..47548920,2	MCF-7	breast:
20	chr2:47396560..47398144-chr2:47548528..47550389,2	K562	blood:
21	chr2:47400707..47405049-chr2:47548142..47553508,10	K562	blood:
22	chr2:47121666..47124880-chr2:47548236..47550482,3	MCF-7	breast:
23	chr2:47417605..47420292-chr2:47545533..47548225,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	chromatin interactions
ENSG00000239605	chromatin interactions
ENSG00000119888	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569508978	chr2:47546456-47546457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112455301	chr2:47546578-47546579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539779799	chr2:47546584-47546585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558296518	chr2:47546610-47546611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567090787	chr2:47546623-47546624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369744892	chr2:47546635-47546636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183263322	chr2:47546647-47546648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560083672	chr2:47546652-47546653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186949970	chr2:47546695-47546696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189895470	chr2:47546696-47546697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541788067	chr2:47546698-47546699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182107831	chr2:47546700-47546701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575463305	chr2:47546728-47546729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545802704	chr2:47546759-47546760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138360972	chr2:47546782-47546783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528277604	chr2:47546799-47546800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549419002	chr2:47546813-47546814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531068260	chr2:47546826-47546827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111852249	chr2:47546832-47546833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145013863	chr2:47546862-47546863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187988840	chr2:47546954-47546955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs193217436	chr2:47546964-47546965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35136965	chr2:47547026-47547027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13416653	chr2:47547030-47547031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562755603	chr2:47547039-47547040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533647491	chr2:47547053-47547054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369152731	chr2:47547071-47547072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372681366	chr2:47547072-47547073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116049659	chr2:47547074-47547075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6734711	chr2:47547086-47547087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185298141	chr2:47547097-47547098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112739694	chr2:47547112-47547113	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377097163	chr2:47547135-47547136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs138804238	chr2:47547146-47547147	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs35995548	chr2:47547159-47547160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556891251	chr2:47547191-47547192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs10199012	chr2:47547226-47547227	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539680550	chr2:47547245-47547246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144631501	chr2:47547255-47547256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376063859	chr2:47547263-47547264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572846718	chr2:47547379-47547380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs188562644	chr2:47547387-47547388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374068921	chr2:47547454-47547455	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs377649964	chr2:47547455-47547456	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs34528498	chr2:47547460-47547461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs537573993	chr2:47547482-47547483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75789854	chr2:47547485-47547486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192792592	chr2:47547486-47547487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562852715	chr2:47547506-47547507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148047843	chr2:47547513-47547514	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Colorectal cancer	17569143	CNVD
Hereditary non-polyposis colorectal cancer	16941473	CNVD
Lynch syndrome	16541406	CNVD
Non-syndromic sensorineural hearing loss	19173287	CNVD
Hereditary non-polyposis colorectal cancer	17228328	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Lynch syndrome	20937110	CNVD
Breast cancer	20616022	CNVD
Colorectal cancer	18708397	CNVD
Endometrial cancer	18708397	CNVD
Lynch syndrome	18708397	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47534400-47550400	Weak transcription	Ovary	ovary
2	chr2:47538400-47550200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:47538400-47552600	Weak transcription	Fetal Brain Female	brain
4	chr2:47538600-47548400	Weak transcription	Fetal Stomach	stomach
5	chr2:47538600-47548800	Weak transcription	NH-A	brain
6	chr2:47538600-47550200	Weak transcription	Fetal Lung	lung
7	chr2:47538800-47550400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:47538800-47550600	Weak transcription	Lung	lung
9	chr2:47539000-47548800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:47539000-47550200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:47540600-47546800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:47540600-47548600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:47541000-47546800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:47541000-47546800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:47541000-47546800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:47541000-47548200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:47541000-47548600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:47541000-47550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:47541200-47546800	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:47541400-47546800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:47541400-47547000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:47541400-47550000	Weak transcription	Adipose Nuclei	Adipose
23	chr2:47542800-47548000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:47543000-47550000	Weak transcription	Colonic Mucosa	Colon
25	chr2:47543200-47563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:47543400-47546800	Weak transcription	A549	lung
27	chr2:47543400-47548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:47543600-47546800	Weak transcription	Fetal Intestine Large	intestine
29	chr2:47543600-47546800	Weak transcription	HepG2	liver
30	chr2:47543600-47548600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:47543600-47549400	Weak transcription	Stomach Mucosa	stomach
32	chr2:47545800-47548000	Weak transcription	Fetal Intestine Small	intestine
33	chr2:47546400-47550800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:47546600-47546800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:47546800-47547000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:47546800-47547000	Enhancers	Brain Angular Gyrus	brain
37	chr2:47546800-47547000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:47546800-47547000	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:47546800-47547200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:47546800-47547400	Enhancers	Fetal Intestine Large	intestine
41	chr2:47546800-47549000	Enhancers	Placenta	Placenta
42	chr2:47546800-47549600	Enhancers	Brain Anterior Caudate	brain
43	chr2:47546800-47549600	Enhancers	Brain Hippocampus Middle	brain
44	chr2:47546800-47550000	Enhancers	Brain Substantia Nigra	brain
45	chr2:47546800-47550200	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:47546800-47550400	Enhancers	A549	lung
47	chr2:47546800-47551200	Enhancers	HepG2	liver
48	chr2:47547000-47547200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:47547000-47547400	Weak transcription	Brain Angular Gyrus	brain
50	chr2:47547000-47549600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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