Variant report

Variant	esv1832073
Chromosome Location	chr18:9048118-9094498
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:61)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:9090749..9092578-chr18:9112344..9115016,2	MCF-7	breast:
2	chr18:8988063..8988947-chr18:9054783..9055892,5	MCF-7	breast:
3	chr18:9071071..9073425-chr18:9101134..9103965,2	K562	blood:
4	chr18:9079082..9081676-chr18:9082286..9085195,2	MCF-7	breast:
5	chr18:9073419..9074239-chr18:9147700..9148986,7	MCF-7	breast:
6	chr18:9079451..9081477-chr18:9081870..9084063,2	K562	blood:
7	chr18:8696479..8697390-chr18:9054928..9055866,2	K562	blood:
8	chr18:9073263..9075396-chr18:9076515..9079059,3	K562	blood:
9	chr18:9072068..9073744-chr18:9148593..9150663,2	MCF-7	breast:
10	chr18:9079082..9081676-chr18:9082286..9085195,2	MCF-7	breast:
11	chr18:9073263..9075396-chr18:9076515..9079059,3	K562	blood:
12	chr18:9073285..9074269-chr18:9516154..9517091,4	K562	blood:
13	chr18:9079892..9081917-chr18:9092681..9094974,2	MCF-7	breast:
14	chr18:9082088..9083716-chr18:9134364..9137304,2	MCF-7	breast:
15	chr18:9039718..9042589-chr18:9051374..9053400,2	MCF-7	breast:
16	chr18:9079443..9082082-chr18:9473830..9476061,2	MCF-7	breast:
17	chr18:9016661..9019620-chr18:9053656..9055788,2	K562	blood:
18	chr18:8707023..8707545-chr18:9054954..9055598,2	MCF-7	breast:
19	chr18:9075693..9077760-chr18:9134959..9136628,2	MCF-7	breast:
20	chr18:9090630..9098108-chr18:9101820..9106792,10	MCF-7	breast:
21	chr18:9085516..9087096-chr18:9136153..9138730,2	K562	blood:
22	chr18:9068940..9073336-chr18:9073886..9077279,4	K562	blood:
23	chr18:9078732..9081972-chr18:9134031..9137501,3	MCF-7	breast:
24	chr18:9074118..9075688-chr18:9095487..9097097,2	MCF-7	breast:
25	chr18:9048710..9050889-chr18:9051134..9052808,2	K562	blood:
26	chr18:9083893..9086370-chr18:9088224..9090286,2	K562	blood:
27	chr18:9070888..9073875-chr18:9135787..9137492,3	MCF-7	breast:
28	chr18:9089096..9091816-chr18:9136693..9138947,2	K562	blood:
29	chr18:9092915..9099777-chr18:9099997..9106148,17	MCF-7	breast:
30	chr18:9073278..9075648-chr18:9098542..9100250,3	K562	blood:
31	chr18:9083893..9086370-chr18:9088224..9090286,2	K562	blood:
32	chr18:9072303..9073987-chr18:9134312..9136561,2	K562	blood:
33	chr18:9073564..9076057-chr18:9136995..9139021,2	K562	blood:
34	chr18:9083562..9086099-chr18:9089409..9093544,4	K562	blood:
35	chr18:9079892..9081917-chr18:9092681..9094974,2	MCF-7	breast:
36	chr18:9083562..9086099-chr18:9089409..9093544,4	K562	blood:
37	chr18:9070965..9077648-chr18:9133458..9138143,9	MCF-7	breast:
38	chr18:9073346..9075648-chr18:9098542..9100172,2	K562	blood:
39	chr18:9081658..9085593-chr18:9135853..9138394,3	MCF-7	breast:
40	chr18:9089564..9091927-chr18:9106557..9108068,2	MCF-7	breast:
41	chr18:9079451..9081477-chr18:9081870..9084063,2	K562	blood:
42	chr18:9079883..9081960-chr18:9102568..9104926,4	MCF-7	breast:
43	chr18:9073896..9076143-chr18:9077487..9080405,2	K562	blood:
44	chr18:9007490..9009777-chr18:9053664..9055896,2	K562	blood:
45	chr18:9073390..9073893-chr18:9147662..9148364,2	MCF-7	breast:
46	chr18:9090100..9092818-chr18:9135581..9137198,2	MCF-7	breast:
47	chr18:9090316..9092996-chr18:9137087..9138947,2	K562	blood:
48	chr18:9072455..9076477-chr18:9100981..9105437,5	MCF-7	breast:
49	chr18:9012532..9015520-chr18:9061634..9063804,2	K562	blood:
50	chr18:9084663..9087582-chr18:9101179..9105396,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFV2-2	chr18:9075237-9075940	NONHSAT057200

No data

Variant related genes	Relation type
ENSG00000017797	chromatin interactions
ENSG00000101745	chromatin interactions
ENSG00000273335	chromatin interactions
ENSG00000265257	chromatin interactions
ENSG00000178127	chromatin interactions
ENSG00000266053	chromatin interactions
ENSG00000168502	chromatin interactions

Extended variants
information (count: 1779 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1779 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570072093	chr18:9048149-9048150	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534883155	chr18:9048190-9048191	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547142169	chr18:9048244-9048245	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140756187	chr18:9048249-9048250	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371910679	chr18:9048293-9048294	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554292170	chr18:9048296-9048297	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532436379	chr18:9048315-9048316	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537084701	chr18:9048384-9048385	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558553414	chr18:9048385-9048386	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577041250	chr18:9048415-9048416	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143423212	chr18:9048439-9048440	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553160926	chr18:9048458-9048459	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552551037	chr18:9048482-9048483	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568467182	chr18:9048502-9048503	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188628757	chr18:9048537-9048538	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28433548	chr18:9048566-9048567	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146725769	chr18:9048572-9048573	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530794699	chr18:9048605-9048606	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140436389	chr18:9048610-9048611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193235147	chr18:9048661-9048662	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185365114	chr18:9048703-9048704	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546892667	chr18:9048708-9048709	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568314045	chr18:9048728-9048729	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565714894	chr18:9048733-9048734	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73388138	chr18:9048737-9048738	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569761621	chr18:9048754-9048755	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10468793	chr18:9048768-9048769	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116336547	chr18:9048784-9048785	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570365675	chr18:9048810-9048811	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76217379	chr18:9048885-9048886	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540147473	chr18:9048895-9048896	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568102500	chr18:9048950-9048951	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574673197	chr18:9048967-9048968	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115334009	chr18:9048976-9048977	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557467329	chr18:9049010-9049011	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575664861	chr18:9049050-9049051	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs117241039	chr18:9049087-9049088	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564464714	chr18:9049105-9049106	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528523769	chr18:9049128-9049129	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540515958	chr18:9049132-9049133	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562079932	chr18:9049140-9049141	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4797349	chr18:9049156-9049157	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556530075	chr18:9049161-9049162	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550736612	chr18:9049328-9049329	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145545881	chr18:9049348-9049349	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576477545	chr18:9049354-9049355	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75246826	chr18:9049430-9049431	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs577127680	chr18:9049433-9049434	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs138099439	chr18:9049442-9049443	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534643675	chr18:9049466-9049467	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9038800-9049000	Weak transcription	K562	blood
2	chr18:9047600-9049400	Enhancers	HepG2	liver
3	chr18:9047800-9049600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:9047800-9049600	Enhancers	NHDF-Ad	bronchial
5	chr18:9047800-9049800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr18:9048000-9048400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:9048000-9049800	Enhancers	Osteobl	bone
8	chr18:9048200-9048400	Enhancers	GM12878-XiMat	blood
9	chr18:9048200-9049200	Enhancers	HMEC	breast
10	chr18:9048200-9049400	Enhancers	NHEK	skin
11	chr18:9048200-9049600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:9048200-9050200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr18:9048400-9049200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:9048400-9049600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:9048400-9049800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:9048400-9049800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr18:9049000-9049200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:9049000-9049800	ZNF genes & repeats	K562	blood
19	chr18:9049200-9049400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:9049200-9049600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr18:9049200-9049800	ZNF genes & repeats	HMEC	breast
22	chr18:9049400-9049600	ZNF genes & repeats	NHEK	skin
23	chr18:9049400-9050000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:9049600-9049800	ZNF genes & repeats	NHDF-Ad	bronchial
25	chr18:9049600-9054600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:9049800-9050800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:9049800-9050800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:9050200-9054400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr18:9050800-9051200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:9050800-9051400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:9050800-9051400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:9050800-9051600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:9051400-9054400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:9052200-9053600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:9053600-9054200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:9053800-9054200	ZNF genes & repeats	K562	blood
37	chr18:9054000-9056000	Enhancers	NHDF-Ad	bronchial
38	chr18:9054200-9054600	Weak transcription	K562	blood
39	chr18:9054200-9055800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr18:9054200-9059600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:9054400-9055000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:9054400-9055000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:9054400-9056200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:9054400-9056400	Enhancers	NHEK	skin
45	chr18:9054400-9056600	Enhancers	HMEC	breast
46	chr18:9054600-9054800	Enhancers	Esophagus	oesophagus
47	chr18:9054600-9056000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:9054600-9056000	Enhancers	K562	blood
49	chr18:9054600-9056000	Enhancers	NHLF	lung
50	chr18:9054600-9056400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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