Variant report

Variant	esv16609
Chromosome Location	chr2:64088361-64089955
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:64089750..64092603-chr2:64092679..64094462,2	MCF-7	breast:
2	chr2:63714664..63715551-chr2:64088116..64089010,2	MCF-7	breast:
3	chr2:64087116..64089164-chr2:64092966..64094614,2	K562	blood:
4	chr2:63918719..63919714-chr2:64088104..64089017,6	K562	blood:
5	chr2:64066782..64070718-chr2:64080924..64091365,11	MCF-7	breast:
6	chr2:64078188..64080568-chr2:64088415..64090856,2	MCF-7	breast:
7	chr2:63925927..63926628-chr2:64088095..64088826,2	K562	blood:
8	chr2:63918869..63919742-chr2:64088240..64089096,3	MCF-7	breast:
9	chr2:63925946..63926752-chr2:64088066..64088909,2	MCF-7	breast:
10	chr2:64067087..64069553-chr2:64087095..64089852,2	MCF-7	breast:
11	chr2:63918879..63919960-chr2:64088096..64089552,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169764	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547460031	chr2:64088382-64088383	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556616751	chr2:64088388-64088389	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184290789	chr2:64088403-64088404	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72891027	chr2:64088439-64088440	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372688515	chr2:64088470-64088471	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77783768	chr2:64088493-64088494	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147144965	chr2:64088528-64088529	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572251090	chr2:64088558-64088559	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545557547	chr2:64088571-64088572	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564242440	chr2:64088583-64088584	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372641996	chr2:64088588-64088589	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187088106	chr2:64088614-64088615	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538645691	chr2:64088658-64088659	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192513482	chr2:64088695-64088696	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111882608	chr2:64088764-64088765	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184435486	chr2:64088777-64088778	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34304544	chr2:64088821-64088822	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550965403	chr2:64088822-64088823	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549903738	chr2:64088830-64088831	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566951530	chr2:64088833-64088834	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569775227	chr2:64088835-64088836	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs398042457	chr2:64088837-64088838	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534435744	chr2:64088856-64088857	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377082521	chr2:64088858-64088859	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570926665	chr2:64088870-64088871	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538305342	chr2:64088965-64088966	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555238142	chr2:64088975-64088976	Strong transcription Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538344414	chr2:64089032-64089033	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557957859	chr2:64089055-64089056	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556554973	chr2:64089064-64089065	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574926444	chr2:64089097-64089098	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535380461	chr2:64089112-64089113	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199500945	chr2:64089122-64089123	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116533921	chr2:64089145-64089146	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572131764	chr2:64089159-64089160	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545948371	chr2:64089199-64089200	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144860822	chr2:64089211-64089212	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190424380	chr2:64089218-64089219	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553791901	chr2:64089241-64089242	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561339182	chr2:64089281-64089282	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528905528	chr2:64089306-64089307	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542139346	chr2:64089307-64089308	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs3934536	chr2:64089373-64089374	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs193210147	chr2:64089388-64089389	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557423407	chr2:64089432-64089433	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148548893	chr2:64089435-64089436	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542933976	chr2:64089459-64089460	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571064708	chr2:64089470-64089471	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531831117	chr2:64089476-64089477	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184420911	chr2:64089485-64089486	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
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
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64070200-64103000	Weak transcription	Gastric	stomach
2	chr2:64077000-64089000	Weak transcription	Fetal Brain Male	brain
3	chr2:64077000-64100200	Weak transcription	Ovary	ovary
4	chr2:64078000-64108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:64081800-64089800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:64081800-64100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:64082200-64089600	Weak transcription	Stomach Mucosa	stomach
8	chr2:64082200-64091400	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr2:64082200-64092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:64082200-64100200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:64082200-64110000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:64082600-64088800	Strong transcription	HepG2	liver
13	chr2:64082600-64089400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:64083000-64089400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:64083000-64089600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr2:64083000-64123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:64083000-64129200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:64083200-64089600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:64083200-64089600	Strong transcription	NH-A	brain
20	chr2:64083200-64090200	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:64083200-64091600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:64083200-64092000	Strong transcription	Fetal Lung	lung
23	chr2:64083200-64097800	Weak transcription	Right Atrium	heart
24	chr2:64083200-64110200	Weak transcription	Small Intestine	intestine
25	chr2:64083200-64110600	Weak transcription	Pancreas	Pancrea
26	chr2:64083400-64088400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:64083400-64089600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:64083400-64091600	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr2:64083600-64088400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:64083600-64088400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:64083600-64088800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:64083600-64089600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:64083600-64092000	Strong transcription	Placenta	Placenta
34	chr2:64083600-64095400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:64083800-64089000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:64083800-64089400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:64084000-64088400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr2:64084000-64092000	Strong transcription	Adipose Nuclei	Adipose
39	chr2:64084000-64095600	Genic enhancers	Dnd41	blood
40	chr2:64084200-64094000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:64084600-64100000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:64084800-64088800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:64084800-64092800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:64085000-64088400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:64085000-64089800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:64085000-64090400	Strong transcription	Thymus	Thymus
47	chr2:64085000-64092600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:64085200-64088400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:64085200-64089000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:64085400-64088800	Weak transcription	HSMMtube	muscle

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