Variant report

Variant	esv3443994
Chromosome Location	chr18:9344394-9344930
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	chr18:9339033..9342733-chr18:9344110..9350817,6	K562	blood:

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	rs12962831	chr18:9344395-9344396	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141868168	chr18:9344427-9344428	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549181151	chr18:9344482-9344483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376445905	chr18:9344489-9344490	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373257957	chr18:9344490-9344491	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs199629854	chr18:9344515-9344516	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs57863617	chr18:9344520-9344521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7235156	chr18:9344521-9344522	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139345339	chr18:9344527-9344528	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150002529	chr18:9344529-9344530	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs386387024	chr18:9344541-9344542	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs59110912	chr18:9344544-9344545	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs564786692	chr18:9344595-9344596	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs368675160	chr18:9344600-9344601	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371669139	chr18:9344603-9344604	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111703660	chr18:9344624-9344625	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531766709	chr18:9344684-9344685	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs57524426	chr18:9344720-9344721	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs57333366	chr18:9344737-9344738	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs558012897	chr18:9344738-9344739	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377338022	chr18:9344739-9344740	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368013158	chr18:9344745-9344746	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557687045	chr18:9344749-9344750	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs566791652	chr18:9344768-9344769	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142283922	chr18:9344828-9344829	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189937436	chr18:9344860-9344861	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7233925	chr18:9344880-9344881	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs139838748	chr18:9344923-9344924	Weak transcription Strong transcription ZNF genes & repeats 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
Lung cancer	18438408	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9335400-9347800	Weak transcription	Small Intestine	intestine
2	chr18:9335400-9369400	Weak transcription	Pancreas	Pancrea
3	chr18:9335400-9371400	Weak transcription	Gastric	stomach
4	chr18:9335600-9366200	Weak transcription	Left Ventricle	heart
5	chr18:9335600-9372600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr18:9335800-9345200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:9335800-9348000	Weak transcription	Psoas Muscle	Psoas
8	chr18:9335800-9348200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr18:9335800-9348400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr18:9335800-9348400	Weak transcription	Thymus	Thymus
11	chr18:9335800-9357600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:9335800-9366200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:9335800-9367600	Weak transcription	Fetal Thymus	thymus
14	chr18:9335800-9367600	Weak transcription	Lung	lung
15	chr18:9335800-9370200	Weak transcription	Adipose Nuclei	Adipose
16	chr18:9336000-9346000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr18:9336000-9348000	Weak transcription	Hela-S3	cervix
18	chr18:9336000-9348400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr18:9336000-9348400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr18:9336000-9348600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr18:9336000-9355600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr18:9336000-9366200	Weak transcription	Brain Angular Gyrus	brain
23	chr18:9336200-9346800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:9336200-9347600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:9336200-9348000	Weak transcription	HepG2	liver
26	chr18:9336200-9348200	Weak transcription	HMEC	breast
27	chr18:9336200-9361400	Weak transcription	Aorta	Aorta
28	chr18:9336400-9349400	Weak transcription	Fetal Intestine Small	intestine
29	chr18:9337200-9346400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:9337200-9346800	Strong transcription	Fetal Muscle Leg	muscle
31	chr18:9337400-9345000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr18:9337600-9347600	Strong transcription	HSMM	muscle
33	chr18:9337800-9345600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:9338000-9345400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:9338200-9345800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:9338200-9348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr18:9338200-9354400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:9338400-9346600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:9338400-9348200	Weak transcription	K562	blood
40	chr18:9338400-9348200	Weak transcription	NHEK	skin
41	chr18:9338400-9348400	Weak transcription	Stomach Mucosa	stomach
42	chr18:9338400-9361600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr18:9338400-9366200	Weak transcription	Brain Anterior Caudate	brain
44	chr18:9338800-9348000	Weak transcription	Colon Smooth Muscle	Colon
45	chr18:9338800-9366000	Weak transcription	Brain Hippocampus Middle	brain
46	chr18:9339600-9347600	Weak transcription	HUVEC	blood vessel
47	chr18:9339600-9365600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:9340600-9344600	Strong transcription	Fetal Kidney	kidney
49	chr18:9340600-9345600	Strong transcription	Fetal Lung	lung
50	chr18:9340800-9346600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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