Variant report

Variant	nsv584323
Chromosome Location	chr2:212731514-212783175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212770483..212772288-chr2:212787078..212789337,2	MCF-7	breast:
2	chr2:212762927..212764849-chr2:212767314..212769070,2	MCF-7	breast:
3	chr2:212744009..212744725-chr2:213042131..213043046,2	MCF-7	breast:
4	chr2:212762927..212764849-chr2:212767314..212769070,2	MCF-7	breast:
5	chr2:212742372..212744206-chr2:213400637..213402216,2	MCF-7	breast:
6	chr2:212750930..212753692-chr2:212781524..212783089,2	MCF-7	breast:
7	chr2:212750930..212753692-chr2:212781524..212783089,2	MCF-7	breast:

Extended variants
information (count: 1099 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77854795	chr2:212732254-212732255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186532746	chr2:212732286-212732287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201022480	chr2:212732288-212732289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566609881	chr2:212732369-212732370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76042725	chr2:212732416-212732417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34790114	chr2:212732459-212732460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558645311	chr2:212732530-212732531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76358006	chr2:212732535-212732536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79475114	chr2:212732536-212732537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569185746	chr2:212732568-212732569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16847131	chr2:212732582-212732583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563461632	chr2:212732609-212732610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113055582	chr2:212732616-212732617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554838498	chr2:212732624-212732625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574689739	chr2:212732654-212732655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190470572	chr2:212732710-212732711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553976956	chr2:212732712-212732713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577133646	chr2:212732722-212732723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183011558	chr2:212732726-212732727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562455218	chr2:212732732-212732733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11903172	chr2:212732735-212732736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78374979	chr2:212732741-212732742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561606879	chr2:212732778-212732779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532324785	chr2:212732779-212732780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16847136	chr2:212732780-212732781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546902912	chr2:212732797-212732798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532873424	chr2:212732821-212732822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116387855	chr2:212732837-212732838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532567358	chr2:212732842-212732843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551016751	chr2:212732883-212732884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569293609	chr2:212732898-212732899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187690770	chr2:212732911-212732912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372876627	chr2:212732943-212732944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562965865	chr2:212732946-212732947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190978270	chr2:212732947-212732948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568457917	chr2:212732959-212732960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534053310	chr2:212732979-212732980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554111548	chr2:212733012-212733013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577073110	chr2:212733062-212733063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530490789	chr2:212733101-212733102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567861840	chr2:212733114-212733115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556222449	chr2:212733124-212733125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374298527	chr2:212733132-212733133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576087840	chr2:212733146-212733147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13002674	chr2:212733164-212733165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116653201	chr2:212733203-212733204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182436717	chr2:212733257-212733258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142270905	chr2:212733303-212733304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540475137	chr2:212733318-212733319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112838479	chr2:212733338-212733339	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212732200-212734200	Enhancers	HUVEC	blood vessel
2	chr2:212732400-212733000	Enhancers	Osteobl	bone
3	chr2:212732400-212733400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:212732600-212733200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:212732600-212733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:212732600-212733400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr2:212732600-212733400	Enhancers	GM12878-XiMat	blood
8	chr2:212732600-212733400	Enhancers	Hela-S3	cervix
9	chr2:212732600-212734400	Enhancers	Fetal Heart	heart
10	chr2:212732800-212733600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:212734200-212741800	Weak transcription	HUVEC	blood vessel
12	chr2:212740000-212740600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:212740600-212741800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:212741800-212742000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:212741800-212742400	Enhancers	HUVEC	blood vessel
16	chr2:212745600-212746000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:212745600-212746800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:212745800-212746200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:212745800-212746400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:212746000-212746800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:212751600-212752600	Enhancers	Fetal Heart	heart
22	chr2:212753800-212754200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:212759600-212764800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:212760000-212760800	Enhancers	Fetal Muscle Leg	muscle
25	chr2:212760800-212766000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:212763000-212763200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:212763200-212763400	Enhancers	Fetal Kidney	kidney
28	chr2:212763200-212764600	Enhancers	Fetal Heart	heart
29	chr2:212763400-212764600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:212763600-212764800	Weak transcription	Fetal Kidney	kidney
31	chr2:212764400-212764600	Enhancers	Brain Germinal Matrix	brain
32	chr2:212764600-212764800	Active TSS	Psoas Muscle	Psoas
33	chr2:212764600-212765000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:212764600-212765000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:212764600-212765000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr2:212764600-212765200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:212764600-212765200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:212764600-212765400	Flanking Active TSS	Fetal Heart	heart
39	chr2:212764800-212765000	Flanking Active TSS	Psoas Muscle	Psoas
40	chr2:212764800-212765200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:212764800-212765200	Active TSS	Brain Angular Gyrus	brain
42	chr2:212764800-212765200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr2:212764800-212765200	Active TSS	Brain Cingulate Gyrus	brain
44	chr2:212764800-212765200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr2:212764800-212765200	Active TSS	Brain Substantia Nigra	brain
46	chr2:212764800-212765200	Enhancers	Fetal Kidney	kidney
47	chr2:212764800-212765200	Active TSS	Right Ventricle	heart
48	chr2:212764800-212765200	Active TSS	Stomach Smooth Muscle	stomach
49	chr2:212764800-212765600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:212764800-212766000	Weak transcription	Brain Germinal Matrix	brain

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