Variant report

Variant	esv3490322
Chromosome Location	chr18:9815309-9816162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:

Variant related genes	Relation type
ENSG00000242651	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375240772	chr18:9815322-9815323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369779130	chr18:9815347-9815348	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372149675	chr18:9815352-9815353	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs578117331	chr18:9815357-9815358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35015847	chr18:9815382-9815383	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545655167	chr18:9815437-9815438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376772625	chr18:9815454-9815455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs60701040	chr18:9815457-9815458	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368890923	chr18:9815487-9815488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12964542	chr18:9815492-9815493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34938123	chr18:9815522-9815523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35948271	chr18:9815527-9815528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376467057	chr18:9815557-9815558	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369317623	chr18:9815592-9815593	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78803019	chr18:9815632-9815633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560601434	chr18:9815713-9815714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528023097	chr18:9815714-9815715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542648583	chr18:9815718-9815719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561315403	chr18:9815730-9815731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113315587	chr18:9815737-9815738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374080803	chr18:9815772-9815773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377623071	chr18:9815877-9815878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371013917	chr18:9815912-9815913	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11081508	chr18:9816017-9816018	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375930143	chr18:9816052-9816053	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78741579	chr18:9816122-9816123	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550309751	chr18:9816127-9816128	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375909782	chr18:9816136-9816137	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569036554	chr18:9816141-9816142	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200853273	chr18:9816154-9816155	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
2	chr18:9806800-9816400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:9809200-9824800	Weak transcription	Lung	lung
11	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
12	chr18:9809400-9816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:9809400-9816000	Weak transcription	Placenta	Placenta
14	chr18:9809400-9816000	Weak transcription	NHEK	skin
15	chr18:9809400-9816600	Weak transcription	Fetal Lung	lung
16	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr18:9809600-9824400	Weak transcription	HMEC	breast
18	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
19	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
20	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:9810200-9824000	Weak transcription	Ovary	ovary
22	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
23	chr18:9810800-9816000	Weak transcription	Adipose Nuclei	Adipose
24	chr18:9810800-9816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:9811000-9815800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:9811000-9815800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr18:9811000-9816800	Weak transcription	Brain Anterior Caudate	brain
31	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
32	chr18:9811200-9817800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr18:9811400-9817000	Weak transcription	Left Ventricle	heart
34	chr18:9811400-9817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:9811400-9823800	Weak transcription	Brain Substantia Nigra	brain
36	chr18:9811600-9816200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:9811800-9816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:9812200-9817400	Weak transcription	Psoas Muscle	Psoas
39	chr18:9812400-9817200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr18:9812400-9817600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr18:9813000-9817400	Weak transcription	Fetal Muscle Leg	muscle
44	chr18:9813000-9819600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr18:9813000-9819800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr18:9814000-9815400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:9814000-9815400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:9814000-9815400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr18:9814000-9815400	Enhancers	HepG2	liver
50	chr18:9814000-9815400	Enhancers	HSMM	muscle

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