Variant report

Variant	esv3446564
Chromosome Location	chr18:9748580-9748907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9747038..9748943-chr18:9749027..9751835,2	K562	blood:
2	chr18:9740906..9742512-chr18:9748438..9750516,2	K562	blood:
3	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
4	chr18:9706059..9708947-chr18:9745597..9749109,3	MCF-7	breast:
5	chr18:9743740..9745947-chr18:9746216..9749165,3	K562	blood:

Variant related genes	Relation type
ENSG00000168461	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553868317	chr18:9748580-9748581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113898885	chr18:9748596-9748597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56322852	chr18:9748597-9748598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199538540	chr18:9748600-9748601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs397831191	chr18:9748601-9748602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557460505	chr18:9748602-9748603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142121664	chr18:9748604-9748605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540573801	chr18:9748617-9748618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368025256	chr18:9748618-9748619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138191828	chr18:9748630-9748631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529321428	chr18:9748644-9748645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551029495	chr18:9748645-9748646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562949062	chr18:9748660-9748661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536269361	chr18:9748664-9748665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71362098	chr18:9748686-9748687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144197720	chr18:9748768-9748769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs193279516	chr18:9748780-9748781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534869673	chr18:9748809-9748810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546597744	chr18:9748819-9748820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568011661	chr18:9748824-9748825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544962292	chr18:9748834-9748835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79085641	chr18:9748841-9748842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558488052	chr18:9748846-9748847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556589174	chr18:9748867-9748868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148715778	chr18:9748885-9748886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574198911	chr18:9748887-9748888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371645110	chr18:9748888-9748889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201939606	chr18:9748897-9748898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:42 , 50 per page) page: 1

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	chr18:9744000-9749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:9744000-9749200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr18:9744000-9749800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr18:9744000-9749800	Weak transcription	Brain Angular Gyrus	brain
13	chr18:9744000-9749800	Weak transcription	Brain Substantia Nigra	brain
14	chr18:9744000-9750000	Weak transcription	Brain Anterior Caudate	brain
15	chr18:9744000-9750800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:9744000-9754800	Weak transcription	Aorta	Aorta
17	chr18:9744000-9755400	Weak transcription	Lung	lung
18	chr18:9744000-9755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:9744000-9757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:9744200-9749200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:9744200-9754800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr18:9744400-9749200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr18:9744400-9749400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:9744400-9750000	Weak transcription	NH-A	brain
25	chr18:9744400-9753200	Weak transcription	NHEK	skin
26	chr18:9744400-9753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:9744400-9753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:9744400-9753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:9744400-9755200	Weak transcription	K562	blood
30	chr18:9744400-9755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr18:9744400-9757000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:9744400-9757000	Weak transcription	HSMMtube	muscle
33	chr18:9744400-9757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:9744800-9753600	Weak transcription	A549	lung
35	chr18:9747200-9749000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:9747400-9750800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:9747800-9750000	Weak transcription	Osteobl	bone
38	chr18:9747800-9755400	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:9748200-9749000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:9748200-9749000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr18:9748200-9749400	Weak transcription	Hela-S3	cervix
42	chr18:9748200-9759600	Enhancers	Primary monocytes fromperipheralblood	blood

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