Variant report

Variant	nsv548144
Chromosome Location	chr1:168573174-168574182
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:168572459..168573424-chr1:169317442..169318283,3	MCF-7	breast:
2	chr1:168572840..168573443-chr1:169680986..169681557,2	MCF-7	breast:
3	chr1:168572596..168573422-chr1:169103197..169103848,3	MCF-7	breast:
4	chr1:168572846..168573369-chr1:168606389..168607281,2	MCF-7	breast:
5	chr1:168572487..168573340-chr1:169680905..169681683,2	K562	blood:
6	chr1:168572454..168573380-chr1:169317397..169317940,2	K562	blood:
7	chr1:168572446..168573392-chr1:169317346..169318310,9	MCF-7	breast:
8	chr1:168408971..168409658-chr1:168572873..168573377,2	MCF-7	breast:
9	chr1:168572452..168573406-chr1:169319144..169320245,3	MCF-7	breast:
10	chr1:168572929..168574536-chr1:169075342..169076920,2	MCF-7	breast:
11	chr1:168572944..168574727-chr1:169074415..169077052,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143153	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12042962	chr1:168573174-168573175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs988725	chr1:168573193-168573194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538298976	chr1:168573195-168573196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550024090	chr1:168573207-168573208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144956042	chr1:168573221-168573222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1158108	chr1:168573232-168573233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146820600	chr1:168573238-168573239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386636566	chr1:168573246-168573247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572791816	chr1:168573247-168573248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184589364	chr1:168573258-168573259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114129604	chr1:168573269-168573270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112904970	chr1:168573270-168573271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544259587	chr1:168573319-168573320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34693081	chr1:168573327-168573328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114809803	chr1:168573367-168573368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375105447	chr1:168573368-168573369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114575861	chr1:168573412-168573413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532716830	chr1:168573447-168573448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115757195	chr1:168573487-168573488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560705062	chr1:168573503-168573504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565100399	chr1:168573504-168573505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140489113	chr1:168573566-168573567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543355057	chr1:168573596-168573597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150357068	chr1:168573605-168573606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573386980	chr1:168573608-168573609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188695188	chr1:168573647-168573648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374476023	chr1:168573665-168573666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192114873	chr1:168573678-168573679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571635854	chr1:168573746-168573747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184663824	chr1:168573771-168573772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs386636567	chr1:168573787-168573788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12063028	chr1:168573789-168573790	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566333404	chr1:168573872-168573873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533795916	chr1:168573877-168573878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555257438	chr1:168573951-168573952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs59928423	chr1:168573955-168573956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567225177	chr1:168573956-168573957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs397970884	chr1:168573965-168573966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138032684	chr1:168574003-168574004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149547091	chr1:168574014-168574015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs541314078	chr1:168574024-168574025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200897942	chr1:168574082-168574083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577652674	chr1:168574098-168574099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545169325	chr1:168574115-168574116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554369120	chr1:168574127-168574128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565674803	chr1:168574150-168574151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543316828	chr1:168574162-168574163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Retinoblastoma	19183342	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
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168568600-168578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:168569200-168582600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:168569600-168578600	Weak transcription	Left Ventricle	heart
4	chr1:168569600-168582400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:168569800-168578400	Weak transcription	Fetal Heart	heart
6	chr1:168570800-168578400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:168572600-168573200	Enhancers	Brain Hippocampus Middle	brain
8	chr1:168572600-168573200	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:168572600-168573200	Enhancers	A549	lung
10	chr1:168572800-168573200	Enhancers	Ovary	ovary
11	chr1:168572800-168573200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:168572800-168573400	Enhancers	Colon Smooth Muscle	Colon
13	chr1:168572800-168574200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:168573000-168573200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:168573000-168573200	Enhancers	Psoas Muscle	Psoas
16	chr1:168573000-168573200	Enhancers	Right Atrium	heart
17	chr1:168573000-168573200	Enhancers	Small Intestine	intestine
18	chr1:168573000-168573200	Enhancers	Hela-S3	cervix
19	chr1:168573000-168573400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:168573000-168573400	Enhancers	Right Ventricle	heart
21	chr1:168573000-168573400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:168573000-168573600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:168573200-168573800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:168573200-168574600	Weak transcription	Small Intestine	intestine
25	chr1:168573200-168576000	Weak transcription	Psoas Muscle	Psoas
26	chr1:168573200-168578000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:168573200-168582200	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:168573400-168576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:168573400-168578000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:168573400-168578800	Weak transcription	Right Ventricle	heart
31	chr1:168573600-168576000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:168573800-168574800	Enhancers	Rectal Smooth Muscle	rectum

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