Variant report

Variant	nsv1014789
Chromosome Location	chr1:186178238-186223721
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
2	chr1:185649957..185650829-chr1:186181415..186182551,4	MCF-7	breast:
3	chr1:186193196..186195433-chr12:120730117..120732240,2	MCF-7	breast:
4	chr1:185782229..185782806-chr1:186181471..186182170,3	K562	blood:
5	chr1:186121917..186122845-chr1:186201039..186202141,3	MCF-7	breast:
6	chr1:185689629..185690434-chr1:186181457..186182167,3	K562	blood:
7	chr1:186204908..186205565-chr20:39591185..39591862,2	MCF-7	breast:
8	chr1:186209219..186212126-chr1:186214924..186216938,2	MCF-7	breast:
9	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
10	chr1:186209219..186212126-chr1:186214924..186216938,2	MCF-7	breast:
11	chr1:185966106..185968754-chr1:186180743..186183363,2	MCF-7	breast:
12	chr1:186163396..186166003-chr1:186180456..186181975,2	K562	blood:
13	chr1:185689319..185692155-chr1:186180753..186183476,2	MCF-7	breast:
14	chr1:186213600..186214443-chr6:94574723..94575337,2	MCF-7	breast:
15	chr1:186124541..186125379-chr1:186181423..186182257,5	MCF-7	breast:
16	chr1:185967238..185968214-chr1:186181474..186182740,8	MCF-7	breast:
17	chr1:186215823..186217650-chr1:186219942..186222008,2	K562	blood:
18	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
19	chr1:186195416..186198253-chr1:186344477..186346582,2	K562	blood:
20	chr1:186124564..186125385-chr1:186181815..186182420,2	K562	blood:
21	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
22	chr1:186193990..186196724-chr1:186199808..186201349,2	K562	blood:
23	chr1:186215823..186217650-chr1:186219942..186222008,2	K562	blood:
24	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
25	chr1:186122447..186124643-chr1:186176305..186178573,4	MCF-7	breast:
26	chr1:185782255..185783272-chr1:186181370..186182154,4	MCF-7	breast:
27	chr1:186124449..186125420-chr1:186181461..186182598,6	MCF-7	breast:
28	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
29	chr1:186187914..186190760-chr1:186196544..186198970,2	MCF-7	breast:
30	chr1:186177265..186179469-chr1:186180273..186181904,2	MCF-7	breast:
31	chr1:186156618..186158956-chr1:186211856..186214828,2	MCF-7	breast:
32	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
33	chr1:186196478..186198082-chr1:186200897..186203093,2	MCF-7	breast:
34	chr1:186120755..186125088-chr1:186200720..186204325,6	MCF-7	breast:
35	chr1:186196248..186199242-chr1:186200494..186202096,2	K562	blood:
36	chr1:186197416..186201292-chr1:186202438..186207046,5	K562	blood:
37	chr1:185689440..185690198-chr1:186181442..186182506,4	MCF-7	breast:
38	chr1:185689564..185690516-chr1:186181513..186182292,3	MCF-7	breast:
39	chr1:185284673..185286716-chr1:186197993..186200205,2	MCF-7	breast:
40	chr1:185702828..185703339-chr1:186181550..186182148,2	MCF-7	breast:
41	chr1:186197416..186202525-chr1:186202904..186206868,5	K562	blood:
42	chr1:185967197..185968048-chr1:186181571..186182366,3	MCF-7	breast:
43	chr1:185782674..185783372-chr1:186181707..186182270,2	MCF-7	breast:
44	chr1:186048997..186051706-chr1:186197290..186199226,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200795	chromatin interactions
ENSG00000143341	chromatin interactions
ENSG00000157181	chromatin interactions
ENSG00000116679	chromatin interactions
ENSG00000047410	chromatin interactions

Extended variants
information (count: 1269 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13375677	chr1:186178238-186178239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12058225	chr1:186178364-186178365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571094125	chr1:186178399-186178400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563578616	chr1:186178414-186178415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs78102838	chr1:186178446-186178447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78552686	chr1:186178454-186178455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148850526	chr1:186178644-186178645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537339791	chr1:186178674-186178675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113559995	chr1:186178708-186178709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546699710	chr1:186178746-186178747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571691657	chr1:186178761-186178762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116617937	chr1:186178764-186178765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550786811	chr1:186178806-186178807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146595395	chr1:186178812-186178813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536455707	chr1:186178828-186178829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112713067	chr1:186178836-186178837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367709823	chr1:186178853-186178854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189008180	chr1:186178874-186178875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533756355	chr1:186178881-186178882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141350544	chr1:186178936-186178937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371462148	chr1:186179016-186179017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181358111	chr1:186179022-186179023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376680334	chr1:186179026-186179027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77079340	chr1:186179028-186179029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186514600	chr1:186179036-186179037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190937166	chr1:186179056-186179057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145146652	chr1:186179062-186179063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182636758	chr1:186179084-186179085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542798911	chr1:186179085-186179086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78736258	chr1:186179122-186179123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573430845	chr1:186179131-186179132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540637985	chr1:186179200-186179201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80048697	chr1:186179215-186179216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187310528	chr1:186179271-186179272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61829757	chr1:186179287-186179288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139022894	chr1:186179302-186179303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570492499	chr1:186179314-186179315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190764943	chr1:186179326-186179327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76334284	chr1:186179375-186179376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553398822	chr1:186179376-186179377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548381075	chr1:186179380-186179381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72711759	chr1:186179396-186179397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183191410	chr1:186179401-186179402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140734685	chr1:186179412-186179413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570401337	chr1:186179438-186179439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150396752	chr1:186179496-186179497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551566623	chr1:186179501-186179502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187480256	chr1:186179502-186179503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11806534	chr1:186179503-186179504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559769426	chr1:186179545-186179546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	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
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186161800-186182000	Weak transcription	Aorta	Aorta
2	chr1:186174000-186178400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:186175400-186178400	Enhancers	Fetal Lung	lung
4	chr1:186175400-186181600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:186175800-186181400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:186176200-186178400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:186176400-186178400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:186176600-186178400	Enhancers	NHDF-Ad	bronchial
9	chr1:186176800-186178400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:186177000-186178400	Enhancers	HMEC	breast
11	chr1:186177000-186178400	Enhancers	NHLF	lung
12	chr1:186177600-186178400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:186178000-186178400	Enhancers	NHEK	skin
14	chr1:186178000-186179800	Weak transcription	Adipose Nuclei	Adipose
15	chr1:186178000-186182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:186178200-186178400	Enhancers	Fetal Stomach	stomach
17	chr1:186178200-186182800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:186178400-186181600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:186178400-186181600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:186178400-186181600	Weak transcription	Fetal Lung	lung
21	chr1:186178400-186181600	Weak transcription	HMEC	breast
22	chr1:186178400-186181600	Weak transcription	NHDF-Ad	bronchial
23	chr1:186178400-186182000	Weak transcription	NHLF	lung
24	chr1:186178400-186183000	Weak transcription	NHEK	skin
25	chr1:186178800-186179800	Enhancers	Spleen	Spleen
26	chr1:186181400-186181800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:186181400-186181800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:186181400-186182000	Enhancers	HUVEC	blood vessel
29	chr1:186181600-186181800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:186181600-186181800	Enhancers	Adipose Nuclei	Adipose
31	chr1:186181600-186182000	Enhancers	Fetal Lung	lung
32	chr1:186181600-186182200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:186181600-186182200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:186181600-186182200	Enhancers	A549	lung
35	chr1:186181600-186182200	Enhancers	NHDF-Ad	bronchial
36	chr1:186181600-186183600	Enhancers	HMEC	breast
37	chr1:186181600-186184600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:186182000-186182200	Enhancers	Aorta	Aorta
39	chr1:186182000-186182400	Enhancers	NHLF	lung
40	chr1:186182200-186182600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:186182400-186183600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:186182600-186182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:186182800-186183400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:186182800-186183600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:186183000-186183400	Enhancers	NHEK	skin
46	chr1:186184600-186189000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:186187800-186188800	Enhancers	Primary B cells from peripheral blood	blood
48	chr1:186188600-186189400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:186188600-186189600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:186188800-186190200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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