Variant report

Variant	esv3317726
Chromosome Location	chr18:9582984-9584072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9582357..9586836-chr18:9613591..9615895,4	K562	blood:
2	chr18:9582694..9585330-chr18:9707569..9709416,2	K562	blood:
3	chr18:9582156..9584516-chr18:9588377..9590362,3	K562	blood:
4	chr18:9577278..9579746-chr18:9582108..9585693,4	K562	blood:
5	chr18:9581775..9584005-chr18:9596096..9598190,2	K562	blood:
6	chr18:9583998..9586737-chr18:9586977..9590180,4	MCF-7	breast:
7	chr18:9570616..9572837-chr18:9581502..9583997,2	K562	blood:

Variant related genes	Relation type
ENSG00000263627	chromatin interactions
ENSG00000266541	chromatin interactions
ENSG00000168461	chromatin interactions
ENSG00000154845	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77378586	chr18:9583014-9583015	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs537885408	chr18:9583035-9583036	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs146220179	chr18:9583039-9583040	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs571657005	chr18:9583075-9583076	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539326664	chr18:9583097-9583098	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs184396067	chr18:9583132-9583133	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368378809	chr18:9583163-9583164	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs190535802	chr18:9583168-9583169	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs375908041	chr18:9583170-9583171	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs369829971	chr18:9583187-9583188	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs372664521	chr18:9583199-9583200	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs182385365	chr18:9583200-9583201	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs573756990	chr18:9583221-9583222	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs544270285	chr18:9583267-9583268	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs376669408	chr18:9583269-9583270	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562457637	chr18:9583277-9583278	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs540945725	chr18:9583279-9583280	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs200254557	chr18:9583302-9583303	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs372995590	chr18:9583311-9583312	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs375981664	chr18:9583313-9583314	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs532753600	chr18:9583316-9583317	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs563453869	chr18:9583362-9583363	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs367930614	chr18:9583369-9583370	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs329035	chr18:9583428-9583429	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535347506	chr18:9583446-9583447	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs186765325	chr18:9583452-9583453	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548754675	chr18:9583462-9583463	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs1298365	chr18:9583558-9583559	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs188905830	chr18:9583573-9583574	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs1290034	chr18:9583577-9583578	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs531691006	chr18:9583581-9583582	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs181324265	chr18:9583586-9583587	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs571309210	chr18:9583635-9583636	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs1275668	chr18:9583644-9583645	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs185599276	chr18:9583656-9583657	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs554460592	chr18:9583752-9583753	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs190162239	chr18:9583778-9583779	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs536878389	chr18:9583833-9583834	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs574186354	chr18:9583871-9583872	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs329034	chr18:9583891-9583892	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369583721	chr18:9583948-9583949	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs573820583	chr18:9583969-9583970	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs142595230	chr18:9583972-9583973	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs556248963	chr18:9584005-9584006	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs577590172	chr18:9584010-9584011	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs182421677	chr18:9584014-9584015	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs76462290	chr18:9584017-9584018	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr18:9545800-9595200	Strong transcription	Dnd41	blood
3	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
6	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
8	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:9566800-9594600	Strong transcription	HSMM	muscle
12	chr18:9568600-9587600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:9570400-9594400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:9572200-9587400	Weak transcription	Ovary	ovary
15	chr18:9575800-9592800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:9576000-9594400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr18:9576200-9584800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:9576200-9586800	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:9576200-9587600	Weak transcription	Brain Substantia Nigra	brain
20	chr18:9576200-9589000	Strong transcription	NHDF-Ad	bronchial
21	chr18:9576200-9594000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr18:9576200-9597800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr18:9576600-9584600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr18:9576800-9584400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:9577200-9583200	Strong transcription	Fetal Lung	lung
26	chr18:9577200-9583600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr18:9577200-9585400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr18:9577600-9594400	Weak transcription	Stomach Mucosa	stomach
29	chr18:9577800-9584800	Strong transcription	K562	blood
30	chr18:9578200-9583400	Strong transcription	Fetal Thymus	thymus
31	chr18:9578200-9589200	Strong transcription	Primary B cells from cord blood	blood
32	chr18:9578400-9587800	Weak transcription	Gastric	stomach
33	chr18:9578400-9595200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr18:9578600-9590800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:9578800-9585000	Strong transcription	Placenta	Placenta
36	chr18:9578800-9594800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr18:9579000-9584400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr18:9579000-9585800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:9579000-9592600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr18:9579000-9593800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:9579400-9583400	Strong transcription	Adipose Nuclei	Adipose
42	chr18:9579400-9583400	Strong transcription	Fetal Kidney	kidney
43	chr18:9579400-9583600	Strong transcription	Brain Cingulate Gyrus	brain
44	chr18:9579400-9583600	Strong transcription	Fetal Intestine Large	intestine
45	chr18:9579400-9584800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr18:9579400-9584800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:9579600-9583000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr18:9579600-9583800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr18:9579600-9583800	Strong transcription	Fetal Muscle Leg	muscle
50	chr18:9579600-9584800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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