Variant report

Variant	esv3340648
Chromosome Location	chr2:64206963-64207495
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	chr2:64205616..64208065-chr2:64244741..64246328,2	K562	blood:

Variant related genes	Relation type
ENSG00000143952	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74800073	chr2:64207015-64207016	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148509121	chr2:64207016-64207017	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180873034	chr2:64207057-64207058	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376833884	chr2:64207065-64207066	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187186398	chr2:64207165-64207166	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558651560	chr2:64207222-64207223	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192154291	chr2:64207244-64207245	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142198142	chr2:64207261-64207262	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540247286	chr2:64207297-64207298	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373542033	chr2:64207311-64207312	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76180346	chr2:64207373-64207374	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575537848	chr2:64207376-64207377	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6731442	chr2:64207379-64207380	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375672384	chr2:64207409-64207410	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542962627	chr2:64207427-64207428	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6546043	chr2:64207445-64207446	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease

Variant related diseases (count:63)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
3	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
5	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
7	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:64175600-64213000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:64177600-64212600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:64178200-64211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:64186800-64216200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:64187600-64210200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:64187600-64211400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:64187800-64210200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:64187800-64211200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:64188000-64210000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:64190000-64212000	Weak transcription	Stomach Mucosa	stomach
20	chr2:64190000-64212800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:64192400-64207600	Strong transcription	HepG2	liver
22	chr2:64194000-64243200	Weak transcription	NHLF	lung
23	chr2:64196400-64212400	Weak transcription	Colonic Mucosa	Colon
24	chr2:64197600-64209200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:64198400-64209800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:64198400-64210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:64198400-64211400	Weak transcription	NH-A	brain
28	chr2:64198400-64211800	Weak transcription	HSMMtube	muscle
29	chr2:64198400-64213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:64198600-64212600	Weak transcription	Fetal Heart	heart
31	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
32	chr2:64198800-64212200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:64199000-64212200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:64199000-64212800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:64199600-64207400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:64199800-64208400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:64200000-64208400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:64201400-64211600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:64201800-64209000	Weak transcription	Hela-S3	cervix
40	chr2:64202200-64210200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:64202800-64208600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:64203200-64207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:64203200-64212600	Weak transcription	K562	blood
45	chr2:64203200-64228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:64203400-64207000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:64203400-64207600	Weak transcription	Fetal Intestine Large	intestine
48	chr2:64203400-64208400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:64203400-64208600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:64203400-64209400	Weak transcription	Muscle Satellite Cultured Cells	--

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