Variant report

Variant	nsv945325
Chromosome Location	chr1:225682280-225684516
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	chr1:225682780..225684982-chr1:225687181..225690046,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location
1	ENAH	hsa-miR-181a-5p	chr1:225682671-225682665
2	ENAH	hsa-miR-124-3p	chr1:225683220-225683214
3	ENAH	hsa-miR-181a-5p	chr1:225682791-225682784

Variant related genes	Relation type
ENSG00000154380	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150313735	chr1:225682295-225682296	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577473791	chr1:225682325-225682326	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541639459	chr1:225682362-225682363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35284042	chr1:225682410-225682411	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373926364	chr1:225682473-225682474	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541515780	chr1:225682498-225682499	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186996157	chr1:225682522-225682523	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144963833	chr1:225682554-225682555	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6751	chr1:225682560-225682561	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs149028026	chr1:225682591-225682592	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560946360	chr1:225682592-225682593	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544529642	chr1:225682602-225682603	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191512786	chr1:225682603-225682604	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143053194	chr1:225682626-225682627	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565177674	chr1:225682638-225682639	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182435389	chr1:225682673-225682674	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564218145	chr1:225682697-225682698	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6681254	chr1:225682702-225682703	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368781735	chr1:225682711-225682712	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138921079	chr1:225682795-225682796	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2406290	chr1:225682905-225682906	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549473929	chr1:225682935-225682936	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567794248	chr1:225682936-225682937	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373410686	chr1:225682948-225682949	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538421388	chr1:225682999-225683000	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111623462	chr1:225683004-225683005	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550251636	chr1:225683012-225683013	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571909250	chr1:225683060-225683061	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377526586	chr1:225683061-225683062	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192508375	chr1:225683081-225683082	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571679505	chr1:225683129-225683130	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs33964064	chr1:225683158-225683159	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs386369811	chr1:225683159-225683160	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375634836	chr1:225683161-225683162	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs386369812	chr1:225683178-225683179	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs59605484	chr1:225683179-225683180	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200251176	chr1:225683183-225683184	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10915842	chr1:225683211-225683212	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554634164	chr1:225683218-225683219	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576199858	chr1:225683226-225683227	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543602039	chr1:225683268-225683269	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564886019	chr1:225683285-225683286	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10915843	chr1:225683288-225683289	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35840692	chr1:225683303-225683304	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142851338	chr1:225683359-225683360	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10915844	chr1:225683369-225683370	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541301701	chr1:225683419-225683420	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201826506	chr1:225683445-225683446	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1062859	chr1:225683462-225683463	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527668308	chr1:225683465-225683466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Developmental delay	21147756	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

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225663200-225683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:225663400-225686000	Weak transcription	A549	lung
5	chr1:225666000-225696800	Weak transcription	Esophagus	oesophagus
6	chr1:225667400-225684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:225669000-225687800	Weak transcription	Placenta	Placenta
8	chr1:225669800-225696800	Weak transcription	Pancreas	Pancrea
9	chr1:225670600-225684200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:225670800-225683800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:225670800-225683800	Weak transcription	HSMMtube	muscle
12	chr1:225670800-225686400	Weak transcription	Ovary	ovary
13	chr1:225670800-225688400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:225671600-225683800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:225671600-225685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:225672000-225683600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:225672200-225685200	Weak transcription	NHDF-Ad	bronchial
18	chr1:225672200-225696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:225672200-225696800	Weak transcription	Brain Germinal Matrix	brain
20	chr1:225672400-225683800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:225672600-225683000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:225672800-225693800	Weak transcription	Left Ventricle	heart
23	chr1:225673200-225683600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:225673400-225684000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:225673600-225693800	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:225673800-225686400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:225674400-225696800	Weak transcription	Aorta	Aorta
28	chr1:225674800-225683800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:225674800-225693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:225675200-225687400	Weak transcription	Stomach Mucosa	stomach
31	chr1:225676200-225696400	Weak transcription	Gastric	stomach
32	chr1:225677000-225686600	Weak transcription	Fetal Stomach	stomach
33	chr1:225677200-225685000	Weak transcription	Fetal Brain Male	brain
34	chr1:225677200-225686400	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:225677200-225688400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:225677200-225688400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:225677200-225696000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:225677200-225696400	Weak transcription	Brain Angular Gyrus	brain
39	chr1:225677200-225696400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:225677200-225696400	Weak transcription	Brain Substantia Nigra	brain
41	chr1:225677200-225696400	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:225677200-225696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:225677200-225696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:225677200-225696600	Weak transcription	Psoas Muscle	Psoas
45	chr1:225677200-225703600	Weak transcription	Fetal Brain Female	brain
46	chr1:225677400-225686000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:225677400-225686200	Weak transcription	NHLF	lung
48	chr1:225677800-225683600	Weak transcription	Fetal Intestine Large	intestine
49	chr1:225679400-225684000	Weak transcription	Adipose Nuclei	Adipose
50	chr1:225679400-225686200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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