Variant report

Variant	esv3338578
Chromosome Location	chr18:12094102-12095500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr18:12093532-12094112	H1-hESC	embryonic stem cell:	n/a	chr18:12093663-12093672 chr18:12093698-12093707 chr18:12093819-12093828 chr18:12093603-12093613
2	MAX	chr18:12093514-12094108	H1-hESC	embryonic stem cell:	n/a	chr18:12093741-12093750 chr18:12093741-12093750 chr18:12093741-12093751 chr18:12093699-12093709 chr18:12093741-12093750
3	ZNF143	chr18:12095402-12095437	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12095187-12095237	HCPEpiC	choroid plexus:	n/a
2	chr18:12095187-12095237	HRE	kidney:	n/a
3	chr18:12095187-12095237	BE2_C	brain:	n/a
4	chr18:12095187-12095237	ovcar-3	ovarian:	n/a
5	chr18:12095187-12095237	HAEpiC	amniotic membrane:	n/a
6	chr18:12095187-12095237	AG09319	gingival:	n/a
7	chr18:12095187-12095237	HRCEpiC	kidney:	n/a
8	chr18:12095187-12095237	SK-N-SH_RA	brain:	n/a
9	chr18:12095187-12095237	AG10803	skin:	n/a
10	chr18:12095187-12095237	IMR90	lung:	fetal
11	chr18:12095187-12095237	AG04450	lung:	fetal
12	chr18:12095187-12095237	Caco-2	colon:	n/a
13	chr18:12095187-12095237	GM12892	blood:	n/a
14	chr18:12095187-12095237	Jurkat	blood:	n/a
15	chr18:12095187-12095237	GM12878	blood:	n/a
16	chr18:12095187-12095237	Hepatocyte	liver:	n/a
17	chr18:12095187-12095237	PFSK-1	brain:	n/a
18	chr18:12095187-12095237	GM06990	blood:	n/a
19	chr18:12095187-12095237	RPTEC	kidney:	n/a
20	chr18:12095187-12095237	PrEC	prostate:	n/a
21	chr18:12095187-12095237	HIPEpiC	eye:	n/a
22	chr18:12095187-12095237	HCT-116	colon:	n/a
23	chr18:12095187-12095237	SKMC	muscle:	n/a
24	chr18:12095187-12095237	ECC-1	luminal epithelium:	n/a
25	chr18:12095187-12095237	HepG2	liver:	n/a
26	chr18:12095187-12095237	HUVEC	blood vessel:	n/a
27	chr18:12095187-12095237	HCF	heart:	n/a
28	chr18:12095187-12095237	MCF-7	breast:	n/a
29	chr18:12095187-12095237	HL-60	blood:	n/a
30	chr18:12095187-12095237	K562	blood:	n/a
31	chr18:12095187-12095237	NB4	blood:	n/a
32	chr18:12095187-12095237	AG09309	skin:	n/a
33	chr18:12095187-12095237	HRPEpiC	eye:	n/a
34	chr18:12095187-12095237	SK-N-MC	brain:	n/a
35	chr18:12095187-12095237	HMEC	breast:	n/a
36	chr18:12095187-12095237	T-47D	breast:	n/a
37	chr18:12095187-12095237	GM19239	blood:	n/a
38	chr18:12095187-12095237	HEK293	kidney:	embryo
39	chr18:12095187-12095237	A549	lung:	n/a
40	chr18:12095187-12095237	SAEC	small airway:	n/a
41	chr18:12095187-12095237	LNCaP	prostate:	n/a
42	chr18:12095187-12095237	NH-A	brain:	n/a
43	chr18:12095187-12095237	AG04449	skin:	fetal
44	chr18:12095187-12095237	ProgFib	skin:	n/a
45	chr18:12095187-12095237	HPAEpiC	pulmonary alveolar:	n/a
46	chr18:12095187-12095237	PANC-1	pancreas:	n/a
47	chr18:12095187-12095237	HEEpiC	esophagus:	n/a
48	chr18:12095187-12095237	U87	brain:	n/a
49	chr18:12095187-12095237	Hela-S3	cervix:	n/a
50	chr18:12095187-12095237	BJ	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12094191..12096366-chr18:12113967..12116717,2	MCF-7	breast:
2	chr18:12092426..12095170-chr18:12097480..12099654,2	K562	blood:
3	chr18:12094117..12094711-chr18:12236525..12237062,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-324P	TF binding region
ENSG00000267478	TF binding region
RNU6-324P	CpG island
ENSG00000267478	CpG island
ENSG00000200827	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146930067	chr18:12094114-12094115	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558742310	chr18:12094118-12094119	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192488571	chr18:12094119-12094120	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114139820	chr18:12094127-12094128	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552655696	chr18:12094157-12094158	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574417421	chr18:12094198-12094199	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541758498	chr18:12094270-12094271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371274749	chr18:12094331-12094332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185103885	chr18:12094393-12094394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188103148	chr18:12094480-12094481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112916690	chr18:12094487-12094488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28481291	chr18:12094547-12094548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182855529	chr18:12094602-12094603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs28545800	chr18:12094620-12094621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563599829	chr18:12094696-12094697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs118125524	chr18:12094810-12094811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564550669	chr18:12094924-12094925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371173273	chr18:12094930-12094931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150146663	chr18:12094940-12094941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532602819	chr18:12094973-12094974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75016272	chr18:12094991-12094992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565925393	chr18:12095003-12095004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184749219	chr18:12095086-12095087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548585452	chr18:12095087-12095088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569980687	chr18:12095109-12095110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537370689	chr18:12095112-12095113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201619769	chr18:12095116-12095117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113266916	chr18:12095137-12095138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138559931	chr18:12095138-12095139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149379795	chr18:12095150-12095151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534412392	chr18:12095157-12095158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs267605116	chr18:12095177-12095178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553081794	chr18:12095278-12095279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574332838	chr18:12095358-12095359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146344841	chr18:12095363-12095364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557009709	chr18:12095384-12095385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34149816	chr18:12095400-12095401	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376098099	chr18:12095449-12095450	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189679098	chr18:12095462-12095463	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12077000-12095000	Weak transcription	Right Atrium	heart
2	chr18:12093000-12094200	Enhancers	Placenta	Placenta
3	chr18:12093800-12094200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12093800-12094200	ZNF genes & repeats	Spleen	Spleen
5	chr18:12094000-12095400	Weak transcription	Pancreas	Pancrea
6	chr18:12095400-12096000	Active TSS	Fetal Brain Male	brain
7	chr18:12095400-12096000	Enhancers	Pancreas	Pancrea

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