Variant report

Variant	esv1169450
Chromosome Location	chr18:12989151-12989154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12988575-12992092	GM12892	blood:	n/a	n/a
2	POLR2A	chr18:12989065-12989758	K562	blood:	n/a	n/a
3	POLR2A	chr18:12989048-12989751	GM12891	blood:	n/a	n/a
4	POLR2A	chr18:12989071-12989314	K562	blood:	n/a	n/a
5	POLR2A	chr18:12987789-12992309	HepG2	liver:	n/a	n/a
6	POLR2A	chr18:12989032-12989387	MCF-7	breast:	n/a	n/a
7	POLR2A	chr18:12988607-12989250	GM12892	blood:	n/a	n/a
8	POLR2A	chr18:12988809-12992393	GM12891	blood:	n/a	n/a
9	POLR2A	chr18:12989030-12989577	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr18:12989024-12989431	A549	lung:	n/a	n/a
11	POLR2A	chr18:12988613-12991875	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr18:12989150-12989823	HL-60	blood:	n/a	n/a
13	POLR2A	chr18:12987994-12992103	K562	blood:	n/a	n/a
14	POLR2A	chr18:12989008-12989156	GM12878	blood:	n/a	n/a
15	POLR2A	chr18:12989019-12989796	K562	blood:	n/a	n/a
16	POLR2A	chr18:12988970-12989379	GM12892	blood:	n/a	n/a
17	POLR2A	chr18:12988939-12989754	GM12878	blood:	n/a	n/a
18	POLR2A	chr18:12988494-12989407	HL-60	blood:	n/a	n/a
19	POLR2A	chr18:12989015-12989391	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr18:12989077-12992444	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12987355..12989301-chr18:12989585..12991303,2	MCF-7	breast:
2	chr18:12979831..12981804-chr18:12988179..12989952,2	K562	blood:
3	chr18:12945869..12950267-chr18:12985686..12992743,10	MCF-7	breast:
4	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
5	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
6	chr18:12988791..12990408-chr18:13028721..13030724,2	K562	blood:

No data

Variant related genes	Relation type
CEP192	TF binding region
ENSG00000266969	chromatin interactions
ENSG00000101639	chromatin interactions
ENSG00000085415	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34236948	chr18:12989151-12989152	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs67580703	chr18:12989152-12989153	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs72528948	chr18:12989153-12989154	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs397711027	chr18:12989154-12989155	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12949200-12989400	Weak transcription	Psoas Muscle	Psoas
2	chr18:12950000-12990200	Weak transcription	Fetal Brain Male	brain
3	chr18:12951400-12990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr18:12959000-12990200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr18:12972800-12990000	Weak transcription	Brain Substantia Nigra	brain
6	chr18:12973200-12990200	Weak transcription	Small Intestine	intestine
7	chr18:12974200-12990200	Weak transcription	Brain Hippocampus Middle	brain
8	chr18:12975800-12990200	Weak transcription	Right Ventricle	heart
9	chr18:12976000-12990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:12976400-12990000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr18:12976400-12990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr18:12976400-12990000	Weak transcription	Colon Smooth Muscle	Colon
13	chr18:12976400-12990000	Weak transcription	Stomach Mucosa	stomach
14	chr18:12976400-12990200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:12976400-12990200	Weak transcription	Brain Angular Gyrus	brain
16	chr18:12976400-12990200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:12976400-12990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr18:12976400-12990400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:12976600-12990000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:12976600-12990000	Weak transcription	Fetal Heart	heart
21	chr18:12976600-12990200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:12976600-12990200	Weak transcription	Brain Anterior Caudate	brain
23	chr18:12976600-12990200	Weak transcription	Esophagus	oesophagus
24	chr18:12976600-12990200	Weak transcription	Spleen	Spleen
25	chr18:12976600-12990400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr18:12976600-12990800	Weak transcription	Aorta	Aorta
27	chr18:12976800-12990200	Weak transcription	Fetal Lung	lung
28	chr18:12977400-12990600	Weak transcription	HSMMtube	muscle
29	chr18:12978600-12989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:12978600-12990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:12978600-12990200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr18:12978600-12990200	Weak transcription	Pancreas	Pancrea
33	chr18:12978800-12990000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:12978800-12990000	Weak transcription	NHLF	lung
35	chr18:12979000-12989400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:12979000-12990000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr18:12979000-12990000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr18:12982200-12990200	Weak transcription	Fetal Intestine Small	intestine
39	chr18:12983200-12990000	Weak transcription	Thymus	Thymus
40	chr18:12983200-12990200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:12983200-12990200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:12983400-12990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr18:12983400-12990200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr18:12983600-12989400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr18:12983600-12990200	Weak transcription	Gastric	stomach
46	chr18:12983600-12990200	Weak transcription	Lung	lung
47	chr18:12983600-12990400	Weak transcription	Fetal Brain Female	brain
48	chr18:12983600-12990400	Weak transcription	Fetal Stomach	stomach
49	chr18:12983800-12990000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr18:12984200-12989600	Weak transcription	H1 Cell Line	embryonic stem cell

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