Variant report

Variant	esv3445258
Chromosome Location	chr2:132999981-133002479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 362 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62163993	chr2:132999982-132999983	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62163994	chr2:132999984-132999985	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201318510	chr2:132999985-132999986	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199928663	chr2:132999990-132999991	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373396761	chr2:132999991-132999992	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75610927	chr2:133000009-133000010	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79896395	chr2:133000010-133000011	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145303158	chr2:133000011-133000012	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80065722	chr2:133000019-133000020	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148952229	chr2:133000025-133000026	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568331164	chr2:133000026-133000027	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62163995	chr2:133000029-133000030	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79048839	chr2:133000032-133000033	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78028967	chr2:133000036-133000037	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56226090	chr2:133000054-133000055	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78807755	chr2:133000056-133000057	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78354628	chr2:133000065-133000066	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139541714	chr2:133000066-133000067	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77572793	chr2:133000068-133000069	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75383167	chr2:133000087-133000088	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200710202	chr2:133000097-133000098	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139038264	chr2:133000115-133000116	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34604734	chr2:133000119-133000120	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397870674	chr2:133000120-133000121	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201991742	chr2:133000137-133000138	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552513345	chr2:133000141-133000142	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201138273	chr2:133000156-133000157	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199828438	chr2:133000168-133000169	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117959344	chr2:133000178-133000179	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147137106	chr2:133000187-133000188	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199730898	chr2:133000191-133000192	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200850383	chr2:133000199-133000200	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369958152	chr2:133000201-133000202	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs574116377	chr2:133000202-133000203	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs62163996	chr2:133000210-133000211	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs199585883	chr2:133000217-133000218	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs200576691	chr2:133000224-133000225	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs62163997	chr2:133000231-133000232	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12612555	chr2:133000234-133000235	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112154476	chr2:133000236-133000237	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112832574	chr2:133000239-133000240	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572517323	chr2:133000251-133000252	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs201442721	chr2:133000254-133000255	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557002333	chr2:133000261-133000262	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs12623260	chr2:133000265-133000266	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs574279382	chr2:133000274-133000275	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544874780	chr2:133000275-133000276	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112575415	chr2:133000302-133000303	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs78335720	chr2:133000311-133000312	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs76798272	chr2:133000343-133000344	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
12	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr2:132996600-133003400	Weak transcription	NHEK	skin
15	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr2:132998200-133000200	ZNF genes & repeats	Fetal Brain Male	brain
18	chr2:132998800-133000400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
19	chr2:132999800-133000000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:132999800-133000000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr2:132999800-133000000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr2:132999800-133000000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:132999800-133000000	ZNF genes & repeats	Brain Angular Gyrus	brain
24	chr2:132999800-133000000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
25	chr2:132999800-133000000	ZNF genes & repeats	A549	lung
26	chr2:132999800-133000000	ZNF genes & repeats	Hela-S3	cervix
27	chr2:132999800-133000200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:132999800-133000200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr2:132999800-133000200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:132999800-133000200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr2:132999800-133000200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:132999800-133000200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:132999800-133000200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr2:132999800-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:132999800-133000200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr2:132999800-133000200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
39	chr2:132999800-133000200	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr2:132999800-133000200	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr2:132999800-133000200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr2:132999800-133000200	ZNF genes & repeats	Fetal Heart	heart
43	chr2:132999800-133000200	ZNF genes & repeats	Left Ventricle	heart
44	chr2:132999800-133000200	ZNF genes & repeats	Ovary	ovary
45	chr2:132999800-133000200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr2:132999800-133000200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr2:132999800-133000200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
48	chr2:132999800-133000200	ZNF genes & repeats	Small Intestine	intestine
49	chr2:132999800-133000200	ZNF genes & repeats	Stomach Mucosa	stomach
50	chr2:132999800-133000200	Strong transcription	K562	blood

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