Variant report

Variant	nsv945673
Chromosome Location	chr1:227799341-227819395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227803218..227804951-chr1:227810975..227813465,2	MCF-7	breast:
2	chr1:227797816..227799614-chr1:227803015..227804639,2	MCF-7	breast:
3	chr1:227803218..227804951-chr1:227810975..227813465,2	MCF-7	breast:
4	chr1:227797816..227799614-chr1:227803015..227804639,2	MCF-7	breast:
5	chr1:227798107..227799678-chr1:227830599..227832461,2	K562	blood:
6	chr1:227749534..227751612-chr1:227801658..227804167,2	K562	blood:
7	chr1:227797075..227799559-chr1:227811537..227814521,3	MCF-7	breast:
8	chr1:227797075..227799559-chr1:227811537..227814521,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181450	chromatin interactions

Extended variants
information (count: 711 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570646515	chr1:227799363-227799364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534880370	chr1:227799381-227799382	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79218994	chr1:227799447-227799448	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192015764	chr1:227799478-227799479	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529585539	chr1:227799549-227799550	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182620470	chr1:227799572-227799573	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186901751	chr1:227799578-227799579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545736557	chr1:227799612-227799613	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575040188	chr1:227799663-227799664	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192379835	chr1:227799670-227799671	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557693100	chr1:227799706-227799707	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139327866	chr1:227799738-227799739	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572753234	chr1:227799783-227799784	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201261342	chr1:227799862-227799863	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541683816	chr1:227799868-227799869	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114957026	chr1:227799910-227799911	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530298389	chr1:227799935-227799936	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139990361	chr1:227799946-227799947	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565905191	chr1:227799990-227799991	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143461638	chr1:227800001-227800002	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377482472	chr1:227800027-227800028	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531067141	chr1:227800069-227800070	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2132369	chr1:227800084-227800085	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547697733	chr1:227800100-227800101	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565890535	chr1:227800104-227800105	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6688145	chr1:227800160-227800161	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs528502197	chr1:227800185-227800186	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546840608	chr1:227800195-227800196	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79237624	chr1:227800200-227800201	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535266153	chr1:227800201-227800202	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550398953	chr1:227800206-227800207	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533656675	chr1:227800246-227800247	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568718738	chr1:227800305-227800306	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539098812	chr1:227800324-227800325	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184278672	chr1:227800443-227800444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572762012	chr1:227800450-227800451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533585341	chr1:227800517-227800518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553609297	chr1:227800566-227800567	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575260031	chr1:227800571-227800572	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564056948	chr1:227800610-227800611	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79624812	chr1:227800637-227800638	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190390927	chr1:227800657-227800658	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532585043	chr1:227800680-227800681	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146264597	chr1:227800694-227800695	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139156743	chr1:227800717-227800718	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564441183	chr1:227800728-227800729	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75153493	chr1:227800771-227800772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193300949	chr1:227800779-227800780	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562005330	chr1:227800821-227800822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529110309	chr1:227800828-227800829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Acute lymphoblastic leukemia	21098271	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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227774800-227805000	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:227781200-227800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:227784000-227799600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:227790800-227801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:227791000-227799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:227791400-227799600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:227791400-227801000	Weak transcription	Psoas Muscle	Psoas
10	chr1:227792600-227799600	Weak transcription	Thymus	Thymus
11	chr1:227794400-227804400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:227794600-227800000	Weak transcription	Right Ventricle	heart
13	chr1:227794600-227802000	Weak transcription	Placenta	Placenta
14	chr1:227794600-227808600	Weak transcription	Left Ventricle	heart
15	chr1:227795200-227801200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:227795200-227807000	Weak transcription	Fetal Heart	heart
17	chr1:227796200-227807200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:227796600-227799600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:227796800-227801600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:227796800-227806000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:227797400-227799800	Weak transcription	HSMMtube	muscle
22	chr1:227797400-227803400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:227797600-227799400	Weak transcription	Brain Substantia Nigra	brain
24	chr1:227797600-227804800	ZNF genes & repeats	Fetal Stomach	stomach
25	chr1:227797800-227800400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:227797800-227800400	ZNF genes & repeats	Dnd41	blood
27	chr1:227797800-227804800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:227797800-227805800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr1:227797800-227806400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr1:227797800-227807200	ZNF genes & repeats	Fetal Brain Female	brain
31	chr1:227798000-227799400	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr1:227798000-227799600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:227798000-227799800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr1:227798000-227800600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:227798000-227800600	Weak transcription	HUVEC	blood vessel
36	chr1:227798000-227800800	ZNF genes & repeats	Fetal Lung	lung
37	chr1:227798000-227804200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:227798000-227806400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr1:227798200-227799600	Strong transcription	Gastric	stomach
40	chr1:227798200-227799800	ZNF genes & repeats	Liver	Liver
41	chr1:227798200-227800000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:227798200-227800800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr1:227798200-227801200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:227798200-227801400	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr1:227798200-227806800	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr1:227798200-227806800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr1:227798200-227806800	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr1:227798200-227808000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:227798400-227799600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr1:227798400-227801000	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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