Variant report

Variant	nsv468138
Chromosome Location	chr1:216736138-216762158
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216739958..216740765-chr1:216915802..216916535,2	MCF-7	breast:
2	chr1:216739850..216740707-chr1:216769423..216770025,2	MCF-7	breast:
3	chr1:216740049..216740610-chr1:217507843..217508439,2	MCF-7	breast:
4	chr1:216483926..216484436-chr1:216740017..216740785,2	MCF-7	breast:
5	chr1:216739906..216740741-chr1:216915729..216916621,3	MCF-7	breast:
6	chr1:216480349..216481313-chr1:216739870..216740593,2	MCF-7	breast:
7	chr1:216734438..216737180-chr1:216741885..216744740,3	MCF-7	breast:
8	chr1:216755828..216757414-chr1:216760890..216762450,2	MCF-7	breast:
9	chr1:216479663..216480513-chr1:216739675..216740627,3	MCF-7	breast:
10	chr1:216734438..216737180-chr1:216741885..216744740,3	MCF-7	breast:
11	chr1:216483841..216485069-chr1:216739823..216740961,7	MCF-7	breast:
12	chr1:216755828..216757414-chr1:216760890..216762450,2	MCF-7	breast:

No data

Extended variants
information (count: 1010 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7546236	chr1:216736138-216736139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561489566	chr1:216736145-216736146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572111575	chr1:216736169-216736170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556040310	chr1:216736193-216736194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11572785	chr1:216736206-216736207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533604045	chr1:216736225-216736226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550376852	chr1:216736377-216736378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563995084	chr1:216736478-216736479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529578884	chr1:216736554-216736555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180744820	chr1:216736587-216736588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143498031	chr1:216736619-216736620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577374486	chr1:216736652-216736653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535014335	chr1:216736668-216736669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75474741	chr1:216736685-216736686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146742553	chr1:216736695-216736696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186045634	chr1:216736701-216736702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555909761	chr1:216736714-216736715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575945948	chr1:216736716-216736717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544816960	chr1:216736767-216736768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537778483	chr1:216736771-216736772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535320479	chr1:216736825-216736826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139355998	chr1:216736866-216736867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557370585	chr1:216736897-216736898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577795631	chr1:216736907-216736908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571989347	chr1:216736946-216736947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577410135	chr1:216736947-216736948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544897485	chr1:216736954-216736955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375248390	chr1:216736967-216736968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371525663	chr1:216736968-216736969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564056802	chr1:216736980-216736981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144093087	chr1:216736998-216736999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115568532	chr1:216737040-216737041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150966211	chr1:216737071-216737072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529614643	chr1:216737109-216737110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542996145	chr1:216737112-216737113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10863255	chr1:216737203-216737204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11572784	chr1:216737204-216737205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11572783	chr1:216737217-216737218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376614595	chr1:216737227-216737228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190551699	chr1:216737228-216737229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140764439	chr1:216737236-216737237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549573333	chr1:216737248-216737249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182253428	chr1:216737256-216737257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374629980	chr1:216737276-216737277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555409045	chr1:216737280-216737281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565943122	chr1:216737282-216737283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573015322	chr1:216737311-216737312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557703502	chr1:216737334-216737335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577824765	chr1:216737368-216737369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543498793	chr1:216737369-216737370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216708800-216744600	Weak transcription	Left Ventricle	heart
2	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
3	chr1:216734200-216736600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:216735800-216738800	Weak transcription	Fetal Heart	heart
5	chr1:216735800-216755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:216736400-216736600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:216736600-216736800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:216736600-216736800	Enhancers	Fetal Muscle Leg	muscle
9	chr1:216736800-216743400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:216736800-216744400	Weak transcription	Psoas Muscle	Psoas
11	chr1:216738800-216739600	Enhancers	Fetal Heart	heart
12	chr1:216739200-216744600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:216739600-216740000	Enhancers	Brain Germinal Matrix	brain
14	chr1:216739600-216740000	Enhancers	Fetal Brain Male	brain
15	chr1:216739600-216748800	Weak transcription	Fetal Heart	heart
16	chr1:216739800-216742200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:216739800-216757200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:216740400-216742600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:216741600-216741800	Enhancers	Stomach Smooth Muscle	stomach
20	chr1:216744600-216744800	Enhancers	Left Ventricle	heart
21	chr1:216744800-216764600	Weak transcription	Left Ventricle	heart
22	chr1:216748800-216750400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:216748800-216750800	Enhancers	Fetal Heart	heart
24	chr1:216749200-216750000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:216749200-216750200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:216749400-216750000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:216749400-216750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:216749800-216750200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:216750000-216754800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:216750000-216755000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:216750400-216757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:216750800-216754000	Weak transcription	Fetal Heart	heart
33	chr1:216752200-216752400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:216752400-216754800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:216754000-216754400	Enhancers	Fetal Lung	lung
36	chr1:216754000-216755200	Enhancers	Fetal Heart	heart
37	chr1:216754800-216755000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:216754800-216756400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:216755000-216755200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:216755000-216755800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:216755000-216756400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:216755200-216767800	Weak transcription	Fetal Heart	heart
43	chr1:216755800-216756600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:216756200-216758200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:216756600-216761800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:216756800-216757400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr1:216757000-216757200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr1:216757200-216761400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:216757400-216773600	Weak transcription	Fetal Intestine Small	intestine
50	chr1:216761400-216761600	Enhancers	Pancreatic Islets	Pancreatic Islet

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