Variant report

Variant	nsv828182
Chromosome Location	chr18:12086983-12089097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:12087914-12087930	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr18:12087795-12087986	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr18:12086747-12086984	Hela-S3	cervix:	n/a	chr18:12086936-12086949
4	MAX	chr18:12087736-12087939	Hela-S3	cervix:	n/a	n/a
5	MAX	chr18:12088822-12089022	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr18:12087365-12087602	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr18:12088713-12088735	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr18:12087906-12088179	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr18:12087761-12087996	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr18:12087807-12087994	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr18:12086704-12087033	HepG2	liver:	n/a	chr18:12086942-12086956
12	RCOR1	chr18:12087531-12087977	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr18:12088340-12088374	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr18:12087845-12087847	Hela-S3	cervix:	n/a	n/a
15	SMARCB1	chr18:12086817-12088778	Hela-S3	cervix:	n/a	n/a
16	TCF7L2	chr18:12087711-12088296	Hela-S3	cervix:	n/a	n/a
17	ZKSCAN1	chr18:12088591-12089037	Hela-S3	cervix:	n/a	n/a
18	ZKSCAN1	chr18:12088123-12088341	Hela-S3	cervix:	n/a	n/a
19	ZNF143	chr18:12088390-12088569	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12084453..12086286-chr18:12088021..12090033,2	K562	blood:
2	chr18:12088519..12091150-chr18:12096385..12097943,2	K562	blood:

Variant related genes	Relation type
ANKRD62	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367763430	chr18:12086984-12086985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565358320	chr18:12086997-12086998	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529892962	chr18:12087037-12087038	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548199811	chr18:12087059-12087060	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184143022	chr18:12087070-12087071	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546559851	chr18:12087102-12087103	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188469171	chr18:12087132-12087133	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571802170	chr18:12087178-12087179	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571640430	chr18:12087187-12087188	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115863070	chr18:12087204-12087205	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs111531048	chr18:12087230-12087231	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs532481029	chr18:12087232-12087233	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs572472189	chr18:12087242-12087243	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs10853218	chr18:12087272-12087273	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs73947263	chr18:12087273-12087274	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576575021	chr18:12087295-12087296	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs543682097	chr18:12087296-12087297	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs371442211	chr18:12087304-12087305	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs576503796	chr18:12087337-12087338	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs369222179	chr18:12087363-12087364	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs373643910	chr18:12087386-12087387	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs540730136	chr18:12087390-12087391	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs569347948	chr18:12087408-12087409	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558883198	chr18:12087425-12087426	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529683797	chr18:12087427-12087428	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs548465236	chr18:12087451-12087452	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563464389	chr18:12087465-12087466	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530718360	chr18:12087482-12087483	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552050406	chr18:12087505-12087506	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528332044	chr18:12087517-12087518	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200565210	chr18:12087534-12087535	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570680065	chr18:12087569-12087570	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115586140	chr18:12087590-12087591	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs62097599	chr18:12087597-12087598	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547917877	chr18:12087599-12087600	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566069104	chr18:12087600-12087601	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73408632	chr18:12087668-12087669	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555220103	chr18:12087691-12087692	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200956138	chr18:12087701-12087702	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs576698101	chr18:12087754-12087755	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs72879104	chr18:12087767-12087768	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145692322	chr18:12087772-12087773	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558679720	chr18:12087795-12087796	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12959671	chr18:12087807-12087808	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75565848	chr18:12087818-12087819	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559072144	chr18:12087820-12087821	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111686491	chr18:12087902-12087903	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574354574	chr18:12087935-12087936	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375184632	chr18:12087991-12087992	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs11876891	chr18:12088037-12088038	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12077000-12095000	Weak transcription	Right Atrium	heart
2	chr18:12082600-12090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:12085200-12088800	Enhancers	Esophagus	oesophagus
4	chr18:12085400-12089600	Enhancers	Pancreas	Pancrea
5	chr18:12085600-12087600	Enhancers	Duodenum Mucosa	Duodenum
6	chr18:12085600-12088600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr18:12085800-12087000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:12085800-12088200	Enhancers	Colonic Mucosa	Colon
9	chr18:12085800-12089000	Enhancers	Stomach Mucosa	stomach
10	chr18:12086000-12087000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr18:12086200-12087200	Enhancers	Gastric	stomach
12	chr18:12086200-12088400	Flanking Active TSS	Hela-S3	cervix
13	chr18:12086400-12087600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr18:12086400-12087600	Enhancers	Right Ventricle	heart
15	chr18:12086400-12087800	Enhancers	Lung	lung
16	chr18:12086600-12087200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:12086600-12089000	Enhancers	Spleen	Spleen
18	chr18:12086800-12088800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr18:12087000-12088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr18:12087000-12089400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr18:12087000-12089600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:12087200-12087400	Flanking Active TSS	Gastric	stomach
23	chr18:12087200-12089400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr18:12087400-12087800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:12087400-12087800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:12087400-12087800	Enhancers	Gastric	stomach
27	chr18:12087600-12088600	Weak transcription	Right Ventricle	heart
28	chr18:12087600-12089000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr18:12087800-12088000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr18:12087800-12088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:12087800-12088200	Genic enhancers	Gastric	stomach
32	chr18:12087800-12089200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr18:12088200-12088600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:12088200-12088800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr18:12088200-12089200	Enhancers	Gastric	stomach
36	chr18:12088200-12089400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr18:12088400-12089600	Enhancers	Hela-S3	cervix
38	chr18:12088600-12089400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:12088600-12089400	Enhancers	Right Ventricle	heart
40	chr18:12088800-12089000	Flanking Active TSS	Esophagus	oesophagus
41	chr18:12088800-12089200	Enhancers	Left Ventricle	heart
42	chr18:12089000-12089200	Enhancers	Duodenum Mucosa	Duodenum
43	chr18:12089000-12089400	Enhancers	Esophagus	oesophagus
44	chr18:12089000-12089400	Enhancers	Psoas Muscle	Psoas
45	chr18:12089000-12093800	Weak transcription	Spleen	Spleen

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