Variant report

Variant	nsv1013538
Chromosome Location	chr1:223626487-223670776
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	chr1:223631487..223633878-chr1:223647540..223649343,2	MCF-7	breast:
2	chr1:223650833..223653582-chr1:223658153..223659681,2	K562	blood:
3	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
4	chr1:223438407..223440755-chr1:223638365..223640039,2	K562	blood:
5	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
6	chr1:223659452..223661133-chr1:223662170..223664247,2	MCF-7	breast:
7	chr1:223663192..223665002-chr1:223674014..223676550,2	K562	blood:
8	chr1:223643941..223646266-chr1:223647339..223649170,2	MCF-7	breast:
9	chr1:223641793..223643553-chr1:223646969..223648689,2	K562	blood:
10	chr1:223615693..223618296-chr1:223662772..223664878,2	MCF-7	breast:
11	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
12	chr1:223659452..223661133-chr1:223662170..223664247,2	MCF-7	breast:
13	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
14	chr1:223649109..223651921-chr1:223677870..223679943,2	K562	blood:
15	chr1:223641793..223643553-chr1:223646042..223648689,3	K562	blood:
16	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
17	chr1:223643498..223645455-chr1:223648498..223650780,2	MCF-7	breast:
18	chr1:223654765..223657553-chr1:223659918..223661675,2	K562	blood:
19	chr1:223351680..223354342-chr1:223666424..223669098,2	MCF-7	breast:
20	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
21	chr1:223536260..223537792-chr1:223642369..223644151,2	MCF-7	breast:
22	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
23	chr1:223641793..223643553-chr1:223646969..223648689,2	K562	blood:
24	chr1:223654765..223657553-chr1:223659918..223661675,2	K562	blood:
25	chr1:223643498..223645455-chr1:223648498..223650780,2	MCF-7	breast:
26	chr1:223649592..223651737-chr1:223672758..223675302,2	K562	blood:
27	chr1:223657800..223659380-chr1:223659500..223662411,2	MCF-7	breast:
28	chr1:223631487..223633878-chr1:223647540..223649343,2	MCF-7	breast:
29	chr1:223643941..223646266-chr1:223647339..223649170,2	MCF-7	breast:
30	chr1:223641793..223643553-chr1:223646042..223648689,3	K562	blood:
31	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
32	chr1:223657800..223659380-chr1:223659500..223662411,2	MCF-7	breast:
33	chr1:223650833..223653582-chr1:223658153..223659681,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143502	chromatin interactions

Extended variants
information (count: 1829 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1829 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572138440	chr1:223627239-223627240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542598567	chr1:223627310-223627311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561090095	chr1:223627343-223627344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372232338	chr1:223627369-223627370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544077433	chr1:223627433-223627434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141739920	chr1:223627455-223627456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534941233	chr1:223627459-223627460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112080258	chr1:223627465-223627466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138760222	chr1:223627505-223627506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376812214	chr1:223627519-223627520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539864531	chr1:223627564-223627565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551623699	chr1:223627571-223627572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563257611	chr1:223627575-223627576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150629676	chr1:223627597-223627598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376359292	chr1:223627604-223627605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113864962	chr1:223627639-223627640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567414543	chr1:223627653-223627654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372954228	chr1:223627657-223627658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369941291	chr1:223627665-223627666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17540893	chr1:223627673-223627674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149388552	chr1:223627674-223627675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568046075	chr1:223627679-223627680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538836596	chr1:223627687-223627688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372985944	chr1:223627715-223627716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537071704	chr1:223627748-223627749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112950846	chr1:223627767-223627768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146297556	chr1:223627814-223627815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577050743	chr1:223627819-223627820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536297287	chr1:223627850-223627851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11591197	chr1:223627890-223627891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576135138	chr1:223627925-223627926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559108464	chr1:223627973-223627974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543860951	chr1:223628004-223628005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572618395	chr1:223628033-223628034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562561456	chr1:223628034-223628035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538622345	chr1:223628110-223628111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577793895	chr1:223628125-223628126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111728260	chr1:223628138-223628139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575980523	chr1:223628140-223628141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375188778	chr1:223628151-223628152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560475347	chr1:223628271-223628272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541698066	chr1:223628274-223628275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34362961	chr1:223628293-223628294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559932939	chr1:223628310-223628311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11578000	chr1:223628374-223628375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139536047	chr1:223628809-223628810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189542704	chr1:223628822-223628823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552060595	chr1:223628854-223628855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76146094	chr1:223628862-223628863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561146464	chr1:223628866-223628867	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Gastric cancer	22014070	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223627200-223628400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:223628800-223629200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:223631800-223632000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr1:223632000-223633600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:223633600-223634400	Enhancers	Stomach Smooth Muscle	stomach
6	chr1:223633800-223634400	Enhancers	Fetal Brain Male	brain
7	chr1:223634000-223635000	Enhancers	Pancreas	Pancrea
8	chr1:223634200-223634600	Enhancers	Gastric	stomach
9	chr1:223634200-223634600	Enhancers	Lung	lung
10	chr1:223634400-223634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:223634400-223635000	Enhancers	Fetal Brain Female	brain
12	chr1:223634400-223639000	Weak transcription	Fetal Brain Male	brain
13	chr1:223635000-223635400	Weak transcription	Fetal Brain Female	brain
14	chr1:223635000-223635400	Weak transcription	Pancreas	Pancrea
15	chr1:223635400-223635600	Enhancers	Pancreas	Pancrea
16	chr1:223635400-223636200	Enhancers	Fetal Brain Female	brain
17	chr1:223635600-223636000	Enhancers	Brain Germinal Matrix	brain
18	chr1:223635600-223642000	Weak transcription	Pancreas	Pancrea
19	chr1:223636000-223636400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:223636200-223639600	Weak transcription	Fetal Brain Female	brain
21	chr1:223636400-223636800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:223636400-223636800	Enhancers	Stomach Mucosa	stomach
23	chr1:223637800-223639200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:223639000-223641800	Enhancers	Fetal Brain Male	brain
25	chr1:223639600-223640600	Enhancers	Fetal Brain Female	brain
26	chr1:223639800-223640000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr1:223639800-223640600	Enhancers	Ovary	ovary
28	chr1:223640000-223640400	Enhancers	Gastric	stomach
29	chr1:223640000-223640800	Enhancers	Esophagus	oesophagus
30	chr1:223640200-223640600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:223642000-223643000	Enhancers	Pancreas	Pancrea
32	chr1:223642200-223643200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr1:223642800-223643400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:223643000-223653400	Weak transcription	Pancreas	Pancrea
35	chr1:223643200-223643400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:223647400-223647600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:223647400-223647600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:223647400-223648000	Bivalent Enhancer	Lung	lung
39	chr1:223647600-223653000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:223648200-223648400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:223648200-223648400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:223648400-223653000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:223649400-223649800	Enhancers	Gastric	stomach
44	chr1:223649400-223650400	Enhancers	Stomach Mucosa	stomach
45	chr1:223650000-223650400	Enhancers	Gastric	stomach
46	chr1:223650000-223650600	Enhancers	Esophagus	oesophagus
47	chr1:223650200-223650800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:223650200-223651000	Enhancers	NHEK	skin
49	chr1:223650400-223651000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:223650800-223651200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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