Variant report

Variant	esv1796843
Chromosome Location	chr18:9749799-9757934
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9742631..9745284-chr18:9756089..9758179,2	MCF-7	breast:
2	chr18:9756873..9759429-chr20:47179184..47181913,2	MCF-7	breast:
3	chr18:9742561..9744290-chr18:9751696..9753226,2	MCF-7	breast:
4	chr18:9756292..9758838-chr18:9926698..9928594,2	K562	blood:
5	chr18:9709717..9711927-chr18:9749957..9752685,2	K562	blood:
6	chr18:9754934..9759602-chr18:9760680..9767118,9	K562	blood:
7	chr18:9751432..9753305-chr18:9757309..9758944,2	MCF-7	breast:
8	chr18:9756107..9758502-chr18:9867013..9869362,2	MCF-7	breast:
9	chr18:9709717..9711665-chr18:9750469..9752685,2	K562	blood:
10	chr18:9745938..9748130-chr18:9753763..9755422,2	K562	blood:
11	chr18:9757713..9760072-chr18:9943460..9946008,2	K562	blood:
12	chr18:9736800..9737476-chr18:9757480..9758357,2	MCF-7	breast:
13	chr18:9716294..9718965-chr18:9756852..9758579,2	K562	blood:
14	chr18:9707138..9711181-chr18:9753549..9757373,4	MCF-7	breast:
15	chr18:9740906..9742512-chr18:9748438..9750516,2	K562	blood:
16	chr18:9740906..9743732-chr18:9749016..9751277,2	K562	blood:
17	chr18:9741767..9745758-chr18:9756519..9760010,5	MCF-7	breast:
18	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
19	chr18:9742831..9745591-chr18:9750609..9753499,2	K562	blood:
20	chr18:9570194..9572131-chr18:9757327..9760241,2	K562	blood:
21	chr18:9751432..9753305-chr18:9757309..9758944,2	MCF-7	breast:
22	chr18:9726328..9728477-chr18:9753850..9756440,2	K562	blood:
23	chr18:9757339..9758292-chr18:9785141..9785899,2	MCF-7	breast:
24	chr18:9705355..9705876-chr18:9757310..9758013,2	MCF-7	breast:
25	chr18:9747038..9748943-chr18:9749027..9751835,2	K562	blood:
26	chr18:9720136..9722151-chr18:9751810..9753463,2	K562	blood:
27	chr18:9743133..9745591-chr18:9751999..9754524,3	K562	blood:
28	chr18:9757328..9758357-chr18:9804207..9804764,3	MCF-7	breast:
29	chr18:9723184..9725690-chr18:9755315..9757429,2	K562	blood:
30	chr18:9755917..9758371-chr18:9847195..9849812,2	MCF-7	breast:
31	chr18:9754564..9758028-chr18:9758607..9762547,4	K562	blood:
32	chr18:9752235..9755136-chr18:9913982..9916846,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101558	chromatin interactions
ENSG00000154845	chromatin interactions
ENSG00000168461	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140220567	chr18:9749812-9749813	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs145524126	chr18:9749820-9749821	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9951171	chr18:9749879-9749880	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540048093	chr18:9749898-9749899	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116518682	chr18:9749902-9749903	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs529108165	chr18:9749947-9749948	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs17510362	chr18:9749952-9749953	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9966247	chr18:9749981-9749982	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77803665	chr18:9750041-9750042	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532775865	chr18:9750079-9750080	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11663323	chr18:9750091-9750092	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566441790	chr18:9750105-9750106	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs151093694	chr18:9750107-9750108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs62078959	chr18:9750140-9750141	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs58337947	chr18:9750167-9750168	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs397764546	chr18:9750168-9750169	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140148238	chr18:9750236-9750237	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538509333	chr18:9750252-9750253	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs36067806	chr18:9750282-9750283	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556908388	chr18:9750329-9750330	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578221075	chr18:9750335-9750336	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530522394	chr18:9750343-9750344	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545073381	chr18:9750348-9750349	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8086019	chr18:9750370-9750371	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs8091300	chr18:9750378-9750379	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs8086030	chr18:9750395-9750396	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561518489	chr18:9750407-9750408	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144969893	chr18:9750408-9750409	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544036958	chr18:9750422-9750423	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552523994	chr18:9750423-9750424	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562421303	chr18:9750448-9750449	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76228553	chr18:9750491-9750492	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78415672	chr18:9750492-9750493	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8086174	chr18:9750497-9750498	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75284847	chr18:9750510-9750511	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560101923	chr18:9750511-9750512	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527348020	chr18:9750515-9750516	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576064942	chr18:9750521-9750522	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549119390	chr18:9750522-9750523	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544969660	chr18:9750544-9750545	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188908013	chr18:9750556-9750557	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550422264	chr18:9750558-9750559	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556882361	chr18:9750565-9750566	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571840277	chr18:9750610-9750611	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8091737	chr18:9750662-9750663	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553836454	chr18:9750770-9750771	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117625765	chr18:9750827-9750828	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536313839	chr18:9750845-9750846	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554627753	chr18:9750851-9750852	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527548704	chr18:9750876-9750877	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	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
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
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9742600-9750000	Weak transcription	Spleen	Spleen
2	chr18:9742800-9749800	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:9742800-9754400	Weak transcription	Right Ventricle	heart
4	chr18:9743000-9756200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:9743200-9750200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr18:9743400-9754800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:9743600-9755400	Weak transcription	Fetal Stomach	stomach
8	chr18:9743800-9750000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:9744000-9749800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr18:9744000-9749800	Weak transcription	Brain Angular Gyrus	brain
11	chr18:9744000-9749800	Weak transcription	Brain Substantia Nigra	brain
12	chr18:9744000-9750000	Weak transcription	Brain Anterior Caudate	brain
13	chr18:9744000-9750800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:9744000-9754800	Weak transcription	Aorta	Aorta
15	chr18:9744000-9755400	Weak transcription	Lung	lung
16	chr18:9744000-9755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:9744000-9757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:9744200-9754800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:9744400-9750000	Weak transcription	NH-A	brain
20	chr18:9744400-9753200	Weak transcription	NHEK	skin
21	chr18:9744400-9753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:9744400-9753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9744400-9753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:9744400-9755200	Weak transcription	K562	blood
25	chr18:9744400-9755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:9744400-9757000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:9744400-9757000	Weak transcription	HSMMtube	muscle
28	chr18:9744400-9757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:9744800-9753600	Weak transcription	A549	lung
30	chr18:9747400-9750800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:9747800-9750000	Weak transcription	Osteobl	bone
32	chr18:9747800-9755400	Weak transcription	Colon Smooth Muscle	Colon
33	chr18:9748200-9759600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr18:9749000-9750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:9749000-9755000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:9749200-9749800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr18:9749200-9750800	Enhancers	Brain Cingulate Gyrus	brain
38	chr18:9749200-9751000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:9749200-9752400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:9749400-9749800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr18:9749400-9751400	Enhancers	Primary B cells from cord blood	blood
42	chr18:9749400-9751800	Genic enhancers	Hela-S3	cervix
43	chr18:9749600-9750400	Enhancers	Brain Hippocampus Middle	brain
44	chr18:9749800-9750200	Enhancers	Brain Angular Gyrus	brain
45	chr18:9749800-9750400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr18:9749800-9750600	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr18:9749800-9750800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr18:9749800-9751000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr18:9749800-9751800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr18:9749800-9752200	Enhancers	Primary hematopoietic stem cells	blood

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