Variant report

Variant	esv3414095
Chromosome Location	chr2:132998742-133001410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 377 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:377 , 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	rs146037482	chr2:132998742-132998743	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs75945798	chr2:132998756-132998757	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370289819	chr2:132998759-132998760	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62163978	chr2:132998770-132998771	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546815110	chr2:132998772-132998773	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568297360	chr2:132998778-132998779	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375284521	chr2:132998779-132998780	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148423483	chr2:132998784-132998785	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188391432	chr2:132998785-132998786	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535595625	chr2:132998798-132998799	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs78903675	chr2:132998800-132998801	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75090516	chr2:132998801-132998802	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77175017	chr2:132998805-132998806	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs76034047	chr2:132998806-132998807	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs77997122	chr2:132998808-132998809	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76405042	chr2:132998814-132998815	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79931128	chr2:132998818-132998819	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112409373	chr2:132998821-132998822	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143257928	chr2:132998822-132998823	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77817429	chr2:132998823-132998824	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181217246	chr2:132998827-132998828	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200231931	chr2:132998830-132998831	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs367893734	chr2:132998832-132998833	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs78360181	chr2:132998837-132998838	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77799340	chr2:132998841-132998842	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78882319	chr2:132998842-132998843	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201029913	chr2:132998846-132998847	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs76940696	chr2:132998848-132998849	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74598152	chr2:132998851-132998852	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs76272794	chr2:132998860-132998861	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150663139	chr2:132998861-132998862	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs77684013	chr2:132998866-132998867	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs375285474	chr2:132998871-132998872	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79276283	chr2:132998874-132998875	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs78494637	chr2:132998875-132998876	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs80242253	chr2:132998876-132998877	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75816873	chr2:132998877-132998878	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs77647096	chr2:132998879-132998880	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs113706965	chr2:132998881-132998882	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs80061336	chr2:132998883-132998884	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs368317987	chr2:132998885-132998886	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs200467091	chr2:132998887-132998888	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186508858	chr2:132998890-132998891	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372344927	chr2:132998895-132998896	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375399845	chr2:132998896-132998897	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs150222179	chr2:132998899-132998900	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs367705674	chr2:132998900-132998901	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75779563	chr2:132998903-132998904	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs77328491	chr2:132998908-132998909	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199743051	chr2:132998912-132998913	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:106 , 50 per page) page: 1 2 3

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	chr2:132996200-132999000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr2:132996200-132999200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr2:132996200-133000200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr2:132996200-133000200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr2:132996200-133000400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:132996200-133000400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:132996200-133000600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr2:132996200-133000600	ZNF genes & repeats	Liver	Liver
14	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr2:132996600-132999800	Weak transcription	A549	lung
17	chr2:132996600-132999800	Weak transcription	NHLF	lung
18	chr2:132996600-133003400	Weak transcription	NHEK	skin
19	chr2:132996800-132999800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:132996800-132999800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:132997400-132998800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:132997600-132999800	Weak transcription	K562	blood
23	chr2:132997800-132999800	Weak transcription	Ovary	ovary
24	chr2:132998200-132999000	Active TSS	Aorta	Aorta
25	chr2:132998200-132999600	Weak transcription	Right Atrium	heart
26	chr2:132998200-133000200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:132998200-133000200	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr2:132998200-133000200	ZNF genes & repeats	Fetal Brain Male	brain
29	chr2:132998400-132998800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
30	chr2:132998400-132998800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr2:132998400-132999000	ZNF genes & repeats	HUVEC	blood vessel
32	chr2:132998400-132999800	Weak transcription	NH-A	brain
33	chr2:132998600-132999800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:132998600-132999800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:132998600-132999800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:132998600-132999800	Weak transcription	Hela-S3	cervix
37	chr2:132998800-133000400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
38	chr2:132999000-132999800	Weak transcription	Aorta	Aorta
39	chr2:132999000-132999800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:132999000-132999800	Weak transcription	HUVEC	blood vessel
41	chr2:132999800-133000000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:132999800-133000000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr2:132999800-133000000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr2:132999800-133000000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:132999800-133000000	ZNF genes & repeats	Brain Angular Gyrus	brain
46	chr2:132999800-133000000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
47	chr2:132999800-133000000	ZNF genes & repeats	A549	lung
48	chr2:132999800-133000000	ZNF genes & repeats	Hela-S3	cervix
49	chr2:132999800-133000200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:132999800-133000200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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