Variant report

Variant	nsv999167
Chromosome Location	chr1:223607886-223643710
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223534849..223538429-chr1:223615365..223617815,4	MCF-7	breast:
2	chr1:223608260..223610550-chr1:223616264..223617958,2	MCF-7	breast:
3	chr1:223615693..223618296-chr1:223662772..223664878,2	MCF-7	breast:
4	chr1:223322245..223323048-chr1:223608788..223609563,2	MCF-7	breast:
5	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
6	chr1:223322170..223323076-chr1:223617469..223618437,3	MCF-7	breast:
7	chr1:223322186..223322942-chr1:223617607..223618444,2	MCF-7	breast:
8	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
9	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
10	chr1:223641793..223643553-chr1:223646042..223648689,3	K562	blood:
11	chr1:223605027..223607773-chr1:223615819..223618091,2	MCF-7	breast:
12	chr1:223604902..223607898-chr1:223616304..223618206,2	MCF-7	breast:
13	chr1:223305854..223308381-chr1:223616232..223619219,2	MCF-7	breast:
14	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
15	chr1:223641793..223643553-chr1:223646969..223648689,2	K562	blood:
16	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
17	chr1:223611669..223614866-chr1:223615779..223618104,3	K562	blood:
18	chr1:223607026..223608626-chr1:223610171..223611706,2	K562	blood:
19	chr1:223607026..223608626-chr1:223610171..223611706,2	K562	blood:
20	chr1:223608260..223610550-chr1:223616264..223617958,2	MCF-7	breast:
21	chr1:223594003..223597385-chr1:223616098..223619072,3	MCF-7	breast:
22	chr1:223322286..223323076-chr1:223617469..223617980,2	MCF-7	breast:
23	chr1:223611669..223614866-chr1:223615779..223618104,3	K562	blood:
24	chr1:223574260..223577674-chr1:223613937..223618124,4	MCF-7	breast:
25	chr1:223599220..223603471-chr1:223604968..223609274,4	MCF-7	breast:
26	chr1:223604902..223607898-chr1:223616304..223618206,2	MCF-7	breast:
27	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
28	chr1:223438407..223440755-chr1:223638365..223640039,2	K562	blood:
29	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
30	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
31	chr1:223536260..223537792-chr1:223642369..223644151,2	MCF-7	breast:
32	chr1:223631487..223633878-chr1:223647540..223649343,2	MCF-7	breast:
33	chr1:223643498..223645455-chr1:223648498..223650780,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143502	chromatin interactions
ENSG00000187554	chromatin interactions

Extended variants
information (count: 922 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572935360	chr1:223607905-223607906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145448850	chr1:223607917-223607918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541228179	chr1:223607945-223607946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577329228	chr1:223607967-223607968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541729158	chr1:223607976-223607977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564549537	chr1:223607995-223607996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117694536	chr1:223608018-223608019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555150405	chr1:223608029-223608030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530312224	chr1:223608058-223608059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374617839	chr1:223608069-223608070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191535999	chr1:223608070-223608071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183100026	chr1:223608082-223608083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531072775	chr1:223608099-223608100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186885562	chr1:223608112-223608113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571422936	chr1:223608184-223608185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532180341	chr1:223608191-223608192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192140962	chr1:223608251-223608252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543723072	chr1:223608260-223608261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34748370	chr1:223608264-223608265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371077787	chr1:223608278-223608279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566014398	chr1:223608312-223608313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534698899	chr1:223608339-223608340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374899169	chr1:223608442-223608443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12408198	chr1:223608443-223608444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75908179	chr1:223608449-223608450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116802882	chr1:223608496-223608497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10047135	chr1:223608504-223608505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375454014	chr1:223608517-223608518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559981502	chr1:223608519-223608520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374155598	chr1:223608535-223608536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553127244	chr1:223608590-223608591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367868021	chr1:223608712-223608713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574839701	chr1:223608724-223608725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182727521	chr1:223608736-223608737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377624295	chr1:223608762-223608763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183758516	chr1:223608798-223608799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559583765	chr1:223608831-223608832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563350599	chr1:223608860-223608861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187952334	chr1:223608887-223608888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17481706	chr1:223608888-223608889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529684407	chr1:223608898-223608899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546301667	chr1:223608907-223608908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564391066	chr1:223608974-223608975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193088194	chr1:223609013-223609014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369765729	chr1:223609033-223609034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528595562	chr1:223609035-223609036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184580699	chr1:223609053-223609054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559588198	chr1:223609057-223609058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142652637	chr1:223609064-223609065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548467067	chr1:223609066-223609067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Congenital diaphragmatic hernia	21085971	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
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223595200-223609200	Weak transcription	Right Atrium	heart
2	chr1:223603000-223609000	Weak transcription	Left Ventricle	heart
3	chr1:223603800-223609000	Weak transcription	Right Ventricle	heart
4	chr1:223604200-223608600	Weak transcription	Pancreas	Pancrea
5	chr1:223604200-223609200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:223604400-223608200	Weak transcription	Fetal Heart	heart
7	chr1:223606800-223609000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:223608200-223609600	Enhancers	Fetal Heart	heart
9	chr1:223608600-223609800	Enhancers	Pancreas	Pancrea
10	chr1:223609000-223609400	Enhancers	Adipose Nuclei	Adipose
11	chr1:223609000-223609600	Enhancers	Left Ventricle	heart
12	chr1:223609000-223609600	Enhancers	Right Ventricle	heart
13	chr1:223609200-223609400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:223609200-223609800	Enhancers	Right Atrium	heart
15	chr1:223610200-223611400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:223610200-223611600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:223616200-223616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:223616600-223617000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:223627200-223628400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:223628800-223629200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:223631800-223632000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr1:223632000-223633600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:223633600-223634400	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:223633800-223634400	Enhancers	Fetal Brain Male	brain
25	chr1:223634000-223635000	Enhancers	Pancreas	Pancrea
26	chr1:223634200-223634600	Enhancers	Gastric	stomach
27	chr1:223634200-223634600	Enhancers	Lung	lung
28	chr1:223634400-223634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:223634400-223635000	Enhancers	Fetal Brain Female	brain
30	chr1:223634400-223639000	Weak transcription	Fetal Brain Male	brain
31	chr1:223635000-223635400	Weak transcription	Fetal Brain Female	brain
32	chr1:223635000-223635400	Weak transcription	Pancreas	Pancrea
33	chr1:223635400-223635600	Enhancers	Pancreas	Pancrea
34	chr1:223635400-223636200	Enhancers	Fetal Brain Female	brain
35	chr1:223635600-223636000	Enhancers	Brain Germinal Matrix	brain
36	chr1:223635600-223642000	Weak transcription	Pancreas	Pancrea
37	chr1:223636000-223636400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:223636200-223639600	Weak transcription	Fetal Brain Female	brain
39	chr1:223636400-223636800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:223636400-223636800	Enhancers	Stomach Mucosa	stomach
41	chr1:223637800-223639200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:223639000-223641800	Enhancers	Fetal Brain Male	brain
43	chr1:223639600-223640600	Enhancers	Fetal Brain Female	brain
44	chr1:223639800-223640000	Bivalent Enhancer	Fetal Stomach	stomach
45	chr1:223639800-223640600	Enhancers	Ovary	ovary
46	chr1:223640000-223640400	Enhancers	Gastric	stomach
47	chr1:223640000-223640800	Enhancers	Esophagus	oesophagus
48	chr1:223640200-223640600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:223642000-223643000	Enhancers	Pancreas	Pancrea
50	chr1:223642200-223643200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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