Variant report

Variant	esv3345254
Chromosome Location	chr2:47648977-47649481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47641820..47643781-chr2:47648399..47651100,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542908243	chr2:47648977-47648978	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561260171	chr2:47649038-47649039	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116310429	chr2:47649055-47649056	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145597418	chr2:47649062-47649063	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115548914	chr2:47649076-47649077	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532853093	chr2:47649077-47649078	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6544988	chr2:47649081-47649082	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566296535	chr2:47649100-47649101	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533792087	chr2:47649145-47649146	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548973700	chr2:47649149-47649150	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567587742	chr2:47649179-47649180	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76606443	chr2:47649184-47649185	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371472398	chr2:47649185-47649186	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538172278	chr2:47649206-47649207	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558900680	chr2:47649210-47649211	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571510408	chr2:47649215-47649216	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577119977	chr2:47649217-47649218	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538755879	chr2:47649230-47649231	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554246033	chr2:47649231-47649232	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375287474	chr2:47649241-47649242	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181398712	chr2:47649271-47649272	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540300119	chr2:47649272-47649273	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561860638	chr2:47649300-47649301	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6741517	chr2:47649315-47649316	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554568491	chr2:47649318-47649319	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185510809	chr2:47649352-47649353	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189925051	chr2:47649353-47649354	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180712400	chr2:47649366-47649367	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138111113	chr2:47649368-47649369	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544737531	chr2:47649369-47649370	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34519172	chr2:47649389-47649390	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142613243	chr2:47649402-47649403	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562797634	chr2:47649419-47649420	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148317083	chr2:47649435-47649436	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111565149	chr2:47649436-47649437	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186539863	chr2:47649447-47649448	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542025845	chr2:47649470-47649471	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567306316	chr2:47649480-47649481	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Breast cancer	17603634	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
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
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Hereditary non-polyposis colorectal cancer	21518781	CNVD
Colorectal cancer	21518781	CNVD
Central neurocytomas	17123091	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47657400	Weak transcription	HSMMtube	muscle
2	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
4	chr2:47631600-47657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:47631800-47649000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:47631800-47649200	Weak transcription	NHEK	skin
7	chr2:47631800-47650000	Weak transcription	NHLF	lung
8	chr2:47631800-47657000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:47631800-47657400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:47631800-47657400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:47631800-47657400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:47631800-47657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:47631800-47657400	Weak transcription	Small Intestine	intestine
14	chr2:47631800-47657600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:47631800-47659400	Weak transcription	Right Atrium	heart
16	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
17	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
18	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
19	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
20	chr2:47632600-47659600	Strong transcription	Fetal Thymus	thymus
21	chr2:47632800-47649200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:47632800-47659600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:47633000-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:47633000-47659600	Strong transcription	Fetal Stomach	stomach
25	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:47634000-47654200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:47634600-47657600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:47634600-47657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:47634600-47657800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:47634800-47657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:47634800-47658800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:47634800-47659600	Strong transcription	Dnd41	blood
33	chr2:47635000-47657600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr2:47635000-47657600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:47635200-47652200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:47635600-47657800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:47636800-47650000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:47636800-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:47637000-47653000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:47637200-47650200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:47637200-47657600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:47637400-47649400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:47637400-47650400	Strong transcription	Primary T cells from cord blood	blood
44	chr2:47637600-47658000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:47637800-47657600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:47638200-47650200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:47639200-47651200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:47639200-47657200	Weak transcription	Gastric	stomach
49	chr2:47639600-47657600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:47641400-47657000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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