Variant report

Variant	esv1842822
Chromosome Location	chr2:148505544-148542682
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	chr2:148505485..148507558-chr2:148536653..148539405,2	K562	blood:
2	chr2:148505485..148507558-chr2:148536653..148539405,2	K562	blood:

Extended variants
information (count: 877 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12691767	chr2:148505544-148505545	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73964104	chr2:148505554-148505555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116076384	chr2:148505568-148505569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183342901	chr2:148505605-148505606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531666480	chr2:148505632-148505633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557705043	chr2:148505637-148505638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549346886	chr2:148505691-148505692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75189447	chr2:148505692-148505693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535144877	chr2:148505709-148505710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547102005	chr2:148505744-148505745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533869699	chr2:148505760-148505761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565812779	chr2:148505770-148505771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189254732	chr2:148505800-148505801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559138978	chr2:148505821-148505822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72867132	chr2:148505833-148505834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs199820415	chr2:148505843-148505844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7595433	chr2:148505844-148505845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74819164	chr2:148505849-148505850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556892936	chr2:148505926-148505927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7607970	chr2:148505928-148505929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141386458	chr2:148505979-148505980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560381097	chr2:148505982-148505983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7581569	chr2:148505995-148505996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529015562	chr2:148513610-148513611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57342444	chr2:148513682-148513683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548468595	chr2:148513707-148513708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188822563	chr2:148513771-148513772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368328646	chr2:148513820-148513821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181332672	chr2:148513852-148513853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559288396	chr2:148513894-148513895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571201640	chr2:148513903-148513904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185974880	chr2:148513938-148513939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190798691	chr2:148513945-148513946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574809135	chr2:148513990-148513991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542324827	chr2:148514004-148514005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559856554	chr2:148514012-148514013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115305169	chr2:148514086-148514087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527425085	chr2:148514124-148514125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545641637	chr2:148514141-148514142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372269834	chr2:148514208-148514209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564032849	chr2:148514232-148514233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531536979	chr2:148514237-148514238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150502177	chr2:148514280-148514281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74653872	chr2:148514361-148514362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561748832	chr2:148514383-148514384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560777124	chr2:148514433-148514434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183899570	chr2:148514463-148514464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547469226	chr2:148514468-148514469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139523712	chr2:148514494-148514495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375294454	chr2:148514505-148514506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148504800-148505600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:148505000-148506000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:148513600-148514000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:148513600-148514600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:148513600-148514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:148513600-148515000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:148513600-148515400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:148513600-148515800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:148513800-148514000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:148513800-148514400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:148513800-148514600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:148513800-148515000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:148514000-148514600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:148514000-148515200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:148514200-148515000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:148514600-148515200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:148515000-148515200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr2:148515000-148515800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:148515200-148515400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:148515200-148516800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:148516800-148517800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:148517800-148518200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:148518200-148518800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:148518200-148519000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:148518200-148519200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:148518400-148519200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:148518600-148519400	Enhancers	Fetal Intestine Small	intestine
28	chr2:148518800-148519000	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:148518800-148519200	Enhancers	Fetal Intestine Large	intestine
30	chr2:148519200-148524000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:148524000-148524800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:148524800-148525600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:148530800-148531800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:148531000-148531800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:148531200-148531400	Enhancers	Pancreas	Pancrea
36	chr2:148531200-148531600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:148531200-148531800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:148531200-148532200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:148531600-148534400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:148534400-148535000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:148535000-148540400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:148539000-148539600	Enhancers	Brain Germinal Matrix	brain
43	chr2:148539000-148539800	Enhancers	Fetal Brain Male	brain
44	chr2:148539000-148541000	Enhancers	HSMMtube	muscle
45	chr2:148539600-148539800	Enhancers	Ovary	ovary
46	chr2:148539600-148540000	Enhancers	HSMM	muscle
47	chr2:148539600-148540200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:148539600-148540600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:148539600-148540800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:148539800-148540400	Enhancers	Psoas Muscle	Psoas

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