Variant report

Variant	nsv518381
Chromosome Location	chr1:223618767-223645256
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223643498..223645455-chr1:223648498..223650780,2	MCF-7	breast:
2	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
3	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
4	chr1:223631487..223633878-chr1:223647540..223649343,2	MCF-7	breast:
5	chr1:223641793..223643553-chr1:223646042..223648689,3	K562	blood:
6	chr1:223643941..223646266-chr1:223647339..223649170,2	MCF-7	breast:
7	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
8	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
9	chr1:223641793..223643553-chr1:223646969..223648689,2	K562	blood:
10	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
11	chr1:223305854..223308381-chr1:223616232..223619219,2	MCF-7	breast:
12	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
13	chr1:223536260..223537792-chr1:223642369..223644151,2	MCF-7	breast:
14	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
15	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
16	chr1:223438407..223440755-chr1:223638365..223640039,2	K562	blood:
17	chr1:223594003..223597385-chr1:223616098..223619072,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187554	chromatin interactions
ENSG00000143502	chromatin interactions

Extended variants
information (count: 684 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11590684	chr1:223618767-223618768	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368046257	chr1:223618770-223618771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367773809	chr1:223618850-223618851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555025479	chr1:223618855-223618856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373555686	chr1:223618885-223618886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141090333	chr1:223618886-223618887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540990535	chr1:223618889-223618890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144011596	chr1:223618903-223618904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144177956	chr1:223618904-223618905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138906316	chr1:223618905-223618906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61837863	chr1:223618907-223618908	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61837864	chr1:223618908-223618909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61837865	chr1:223618909-223618910	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534056059	chr1:223618912-223618913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559820222	chr1:223618922-223618923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77864826	chr1:223618923-223618924	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs80266310	chr1:223618929-223618930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575793399	chr1:223618931-223618932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113128784	chr1:223618933-223618934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545627759	chr1:223618936-223618937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61837866	chr1:223618939-223618940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144680484	chr1:223618940-223618941	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs61837867	chr1:223618947-223618948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372289031	chr1:223618949-223618950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369525561	chr1:223618953-223618954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531737028	chr1:223618973-223618974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531125169	chr1:223618998-223618999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567746254	chr1:223619001-223619002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377508073	chr1:223619017-223619018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546431897	chr1:223619026-223619027	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116466423	chr1:223619036-223619037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113293574	chr1:223619056-223619057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149214579	chr1:223619057-223619058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11261272	chr1:223619066-223619067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547853167	chr1:223619083-223619084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563075618	chr1:223619097-223619098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376175332	chr1:223619128-223619129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552357942	chr1:223619133-223619134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570674338	chr1:223619147-223619148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113640929	chr1:223619148-223619149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188104201	chr1:223619193-223619194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11811728	chr1:223619218-223619219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572138440	chr1:223627239-223627240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542598567	chr1:223627310-223627311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561090095	chr1:223627343-223627344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372232338	chr1:223627369-223627370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544077433	chr1:223627433-223627434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141739920	chr1:223627455-223627456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534941233	chr1:223627459-223627460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112080258	chr1:223627465-223627466	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:35 , 50 per page) page: 1

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

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