Variant report

Variant	nsv826931
Chromosome Location	chr1:228112465-228113009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228111067..228112932-chr1:228117820..228119468,2	MCF-7	breast:
2	chr1:228110564..228113344-chr1:228642639..228644578,2	K562	blood:
3	chr1:228099351..228102310-chr1:228112933..228115119,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1418422	chr1:228112465-228112466	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556842352	chr1:228112466-228112467	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs553818256	chr1:228112515-228112516	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs537162977	chr1:228112518-228112519	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376214092	chr1:228112552-228112553	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558318811	chr1:228112553-228112554	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs576547233	chr1:228112573-228112574	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576815698	chr1:228112596-228112597	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572285568	chr1:228112623-228112624	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs554478864	chr1:228112699-228112700	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs28665607	chr1:228112716-228112717	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559906062	chr1:228112726-228112727	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs115903339	chr1:228112732-228112733	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs561169824	chr1:228112760-228112761	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs574888340	chr1:228112762-228112763	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs945701	chr1:228112776-228112777	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs565224684	chr1:228112823-228112824	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs374047888	chr1:228112825-228112826	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs189605908	chr1:228112827-228112828	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs377053859	chr1:228112862-228112863	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs373090373	chr1:228112934-228112935	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs111538484	chr1:228112961-228112962	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs543038916	chr1:228113001-228113002	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228098600-228117600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
3	chr1:228099400-228122400	Weak transcription	HSMM	muscle
4	chr1:228103800-228113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:228103800-228117000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:228105200-228112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:228106600-228121400	Weak transcription	Psoas Muscle	Psoas
8	chr1:228107800-228134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:228108200-228113000	Weak transcription	Colonic Mucosa	Colon
10	chr1:228108200-228113600	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr1:228109000-228113400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:228109200-228113600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:228109200-228117800	Weak transcription	Pancreas	Pancrea
14	chr1:228109600-228112800	Weak transcription	HMEC	breast
15	chr1:228109600-228132000	Weak transcription	Gastric	stomach
16	chr1:228109800-228112600	Weak transcription	Esophagus	oesophagus
17	chr1:228109800-228112800	Weak transcription	Right Ventricle	heart
18	chr1:228109800-228117800	Weak transcription	Lung	lung
19	chr1:228109800-228134000	Weak transcription	Right Atrium	heart
20	chr1:228110000-228114000	Genic enhancers	Fetal Stomach	stomach
21	chr1:228110400-228113000	Enhancers	Fetal Lung	lung
22	chr1:228111000-228129800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:228111200-228113000	Strong transcription	Ovary	ovary
24	chr1:228111200-228116400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:228111200-228117000	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:228111600-228114200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:228112000-228113000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:228112000-228113400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:228112000-228115200	Enhancers	Spleen	Spleen
30	chr1:228112000-228115400	Genic enhancers	Stomach Smooth Muscle	stomach
31	chr1:228112200-228112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:228112200-228112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:228112200-228112600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:228112200-228113800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:228112200-228114000	Enhancers	Fetal Heart	heart
36	chr1:228112200-228114000	Enhancers	Fetal Muscle Leg	muscle
37	chr1:228112200-228115200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:228112200-228115200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:228112400-228112600	Enhancers	Brain Germinal Matrix	brain
40	chr1:228112400-228113000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:228112400-228113000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:228112400-228113400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:228112400-228114400	Enhancers	Colon Smooth Muscle	Colon
44	chr1:228112600-228112800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:228112600-228113000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:228112600-228113000	Bivalent Enhancer	Placenta	Placenta
47	chr1:228112600-228113400	Enhancers	Esophagus	oesophagus
48	chr1:228112800-228113000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:228112800-228113200	Enhancers	HMEC	breast
50	chr1:228112800-228113400	Enhancers	Right Ventricle	heart

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