Variant report

Variant	nsv1008237
Chromosome Location	chr1:184583205-184609820
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:184595300..184598106-chr1:184610588..184612513,2	K562	blood:
2	chr1:184582601..184584129-chr1:184585212..184587470,2	K562	blood:
3	chr1:184586812..184591239-chr1:184591803..184597596,5	K562	blood:
4	chr1:184604599..184607709-chr1:184609558..184612019,3	MCF-7	breast:
5	chr1:184605092..184607430-chr1:184608808..184610449,2	MCF-7	breast:
6	chr1:184586812..184591239-chr1:184591803..184597596,5	K562	blood:
7	chr1:184580848..184583559-chr1:184594169..184597015,2	MCF-7	breast:
8	chr1:184595979..184598591-chr1:184630812..184634151,3	MCF-7	breast:
9	chr1:184595699..184596315-chr1:184604140..184605096,2	MCF-7	breast:
10	chr1:184596144..184599666-chr1:184600953..184604085,4	MCF-7	breast:
11	chr1:184605092..184607430-chr1:184608808..184610449,2	MCF-7	breast:
12	chr1:184593353..184595615-chr1:184598577..184600166,2	K562	blood:
13	chr1:184592564..184595965-chr1:184599184..184603170,4	MCF-7	breast:
14	chr1:184572317..184574654-chr1:184590193..184593113,2	MCF-7	breast:
15	chr1:184354966..184357743-chr1:184592282..184594908,2	MCF-7	breast:
16	chr1:184595106..184596755-chr1:184645371..184647352,2	MCF-7	breast:
17	chr1:184591640..184593631-chr1:184596636..184598528,2	K562	blood:
18	chr1:184605910..184608613-chr1:184618285..184620499,2	MCF-7	breast:
19	chr1:184604698..184606769-chr1:184619812..184621588,2	MCF-7	breast:
20	chr1:184579340..184581537-chr1:184590381..184593338,2	MCF-7	breast:
21	chr1:184587891..184589883-chr1:184623731..184626066,2	K562	blood:
22	chr1:184581267..184582787-chr1:184586078..184588900,2	MCF-7	breast:
23	chr1:184591640..184593631-chr1:184596636..184598528,2	K562	blood:
24	chr1:184531076..184532675-chr1:184595685..184597325,2	MCF-7	breast:
25	chr1:184591709..184594438-chr1:184612713..184614611,2	K562	blood:
26	chr1:184590514..184593302-chr1:184942375..184945219,2	K562	blood:
27	chr1:184592564..184595965-chr1:184599184..184603170,4	MCF-7	breast:
28	chr1:184582601..184584129-chr1:184585212..184587470,2	K562	blood:
29	chr1:184451846..184452711-chr1:184595560..184596402,2	MCF-7	breast:
30	chr1:184595855..184598931-chr1:184605508..184607778,3	K562	blood:
31	chr1:184596144..184599666-chr1:184600953..184604085,4	MCF-7	breast:
32	chr1:184593353..184595615-chr1:184598577..184600166,2	K562	blood:
33	chr1:184602139..184603898-chr17:57922496..57924162,2	MCF-7	breast:
34	chr1:184581306..184582992-chr1:184601033..184602907,2	MCF-7	breast:
35	chr1:184595699..184596315-chr1:184604140..184605096,2	MCF-7	breast:
36	chr1:179899158..179900985-chr1:184603757..184605765,2	MCF-7	breast:
37	chr1:184604599..184607709-chr1:184609558..184612019,3	MCF-7	breast:
38	chr1:184580848..184583559-chr1:184594169..184597015,2	MCF-7	breast:
39	chr1:184595855..184598931-chr1:184605508..184607778,3	K562	blood:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	C1orf21	hsa-miR-7-5p	chr1:184590774-184590780
2	C1orf21	hsa-miR-16-5p	chr1:184588897-184588917
3	C1orf21	hsa-miR-186-5p	chr1:184597918-184597924
4	C1orf21	hsa-miR-7-5p	chr1:184590735-184590742
5	C1orf21	hsa-miR-16-5p	chr1:184588910-184588917

Variant related genes	Relation type
ENSG00000252790	chromatin interactions
ENSG00000271387	chromatin interactions
ENSG00000116667	chromatin interactions
ENSG00000135842	chromatin interactions

Extended variants
information (count: 951 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:951 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535118766	chr1:184583253-184583254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16823340	chr1:184583294-184583295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs558422585	chr1:184583306-184583307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565436520	chr1:184583316-184583317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180684989	chr1:184583360-184583361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185499845	chr1:184583371-184583372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76594507	chr1:184583397-184583398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573566563	chr1:184583440-184583441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543231521	chr1:184583452-184583453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16823341	chr1:184583545-184583546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547009290	chr1:184583629-184583630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151319053	chr1:184583653-184583654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55903773	chr1:184583658-184583659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35035470	chr1:184583855-184583856	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560478838	chr1:184583865-184583866	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191004865	chr1:184583871-184583872	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140554923	chr1:184583881-184583882	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564402808	chr1:184583961-184583962	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116045142	chr1:184583978-184583979	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554592469	chr1:184584028-184584029	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573513122	chr1:184584076-184584077	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150453278	chr1:184584077-184584078	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576281493	chr1:184584124-184584125	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540971649	chr1:184584149-184584150	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542285240	chr1:184584156-184584157	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565300704	chr1:184584197-184584198	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536865347	chr1:184584199-184584200	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539049474	chr1:184584221-184584222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79784914	chr1:184584247-184584248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138625690	chr1:184584301-184584302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77327510	chr1:184584354-184584355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537295256	chr1:184584403-184584404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555561292	chr1:184584426-184584427	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs183526382	chr1:184584444-184584445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541305670	chr1:184584458-184584459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553287744	chr1:184584470-184584471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs141612235	chr1:184584484-184584485	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188299708	chr1:184584529-184584530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs541505998	chr1:184584571-184584572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145278478	chr1:184584631-184584632	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs559870638	chr1:184584639-184584640	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543609909	chr1:184584712-184584713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs137890494	chr1:184584797-184584798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574916303	chr1:184584799-184584800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191735868	chr1:184584847-184584848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542203372	chr1:184584858-184584859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559598141	chr1:184584864-184584865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371851584	chr1:184584897-184584898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551083694	chr1:184585024-184585025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183457564	chr1:184585058-184585059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184557200-184591600	Weak transcription	Aorta	Aorta
2	chr1:184559000-184588400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:184560600-184591000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:184566800-184588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:184567200-184590200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:184568400-184588600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:184569800-184588800	Weak transcription	Liver	Liver
8	chr1:184571600-184591200	Weak transcription	Fetal Intestine Large	intestine
9	chr1:184573600-184598800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:184573800-184588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:184574400-184588600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:184574800-184584000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:184574800-184589000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:184577800-184585600	Weak transcription	Right Ventricle	heart
15	chr1:184578200-184591400	Weak transcription	Lung	lung
16	chr1:184578400-184584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:184578400-184584000	Weak transcription	Spleen	Spleen
18	chr1:184578400-184584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:184578400-184586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:184578600-184584000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:184578600-184598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:184580600-184588600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:184580600-184591000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:184580600-184591400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:184580800-184584000	Weak transcription	Left Ventricle	heart
26	chr1:184580800-184584200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:184580800-184584400	Weak transcription	Brain Substantia Nigra	brain
28	chr1:184580800-184588400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:184580800-184588800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:184580800-184590200	Weak transcription	Right Atrium	heart
31	chr1:184580800-184590400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:184580800-184590600	Weak transcription	Adipose Nuclei	Adipose
33	chr1:184580800-184591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:184580800-184605000	Weak transcription	Fetal Brain Female	brain
35	chr1:184581000-184583800	Weak transcription	Fetal Lung	lung
36	chr1:184581000-184583800	Weak transcription	Fetal Stomach	stomach
37	chr1:184581000-184584000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:184581000-184584000	Weak transcription	Esophagus	oesophagus
39	chr1:184581000-184584400	Weak transcription	Brain Angular Gyrus	brain
40	chr1:184581000-184584400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:184581000-184589000	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:184581000-184589200	Weak transcription	Ovary	ovary
43	chr1:184581000-184590600	Weak transcription	Fetal Heart	heart
44	chr1:184581000-184590800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:184581000-184590800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:184581000-184590800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:184581000-184598800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:184581000-184602200	Weak transcription	Brain Germinal Matrix	brain
49	chr1:184581200-184588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:184581200-184589000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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