Variant report

Variant	esv3495871
Chromosome Location	chr18:11864402-11867900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr18:11866994-11867253	K562	blood:	n/a	n/a
2	CUX1	chr18:11866981-11866989	K562	blood:	n/a	n/a
3	IRF1	chr18:11867089-11867223	K562	blood:	n/a	n/a
4	NR3C1	chr18:11866489-11867007	A549	lung:	n/a	chr18:11866742-11866756
5	NR3C1	chr18:11866547-11866942	A549	lung:	n/a	chr18:11866742-11866756
6	NR3C1	chr18:11866624-11866847	A549	lung:	n/a	chr18:11866742-11866756
7	POLR2A	chr18:11867106-11867161	H1-hESC	embryonic stem cell:	n/a	n/a
8	RCOR1	chr18:11866603-11866798	K562	blood:	n/a	n/a
9	TAL1	chr18:11866962-11867191	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11849782..11853357-chr18:11861149..11865205,5	K562	blood:
2	chr18:11867059..11868588-chr18:11908329..11909898,2	K562	blood:
3	chr18:11853567..11855306-chr18:11862502..11865117,2	K562	blood:
4	chr18:11854912..11857542-chr18:11866452..11868322,3	K562	blood:
5	chr18:11855790..11858853-chr18:11861688..11864675,4	K562	blood:
6	chr18:11856529..11858770-chr18:11861924..11864675,2	K562	blood:

Variant related genes	Relation type
GNAL	TF binding region
ENSG00000255112	chromatin interactions
ENSG00000272703	chromatin interactions
ENSG00000273141	chromatin interactions
ENSG00000141404	chromatin interactions
ENSG00000267165	chromatin interactions
ENSG00000154889	chromatin interactions

Extended variants
information (count: 178 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188923463	chr18:11864424-11864425	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs571584533	chr18:11864427-11864428	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs538800052	chr18:11864437-11864438	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs553941049	chr18:11864456-11864457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs141387440	chr18:11864458-11864459	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs534295532	chr18:11864467-11864468	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs555619455	chr18:11864477-11864478	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs375196722	chr18:11864490-11864491	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs114571428	chr18:11864496-11864497	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs372291589	chr18:11864515-11864516	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs369786701	chr18:11864553-11864554	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs398122927	chr18:11864576-11864577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs371436894	chr18:11864622-11864623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs528248772	chr18:11864627-11864628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs544221335	chr18:11864660-11864661	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs117700006	chr18:11864668-11864669	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs138151459	chr18:11864678-11864679	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142147692	chr18:11864701-11864702	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560737011	chr18:11864704-11864705	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs527921876	chr18:11864706-11864707	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4315401	chr18:11864707-11864708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143301115	chr18:11864714-11864715	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2855641	chr18:11864720-11864721	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2855642	chr18:11864723-11864724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571523001	chr18:11864725-11864726	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148316444	chr18:11864728-11864729	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs374207690	chr18:11864741-11864742	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113079856	chr18:11864748-11864749	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564841687	chr18:11864758-11864759	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs76409928	chr18:11864822-11864823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs192691942	chr18:11864836-11864837	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs78439662	chr18:11864888-11864889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536090236	chr18:11864922-11864923	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555804270	chr18:11864923-11864924	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs34084678	chr18:11864950-11864951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs35023541	chr18:11864952-11864953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs787555	chr18:11864977-11864978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs787556	chr18:11865005-11865006	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550654245	chr18:11865058-11865059	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369940656	chr18:11865086-11865087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375455070	chr18:11865087-11865088	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556142269	chr18:11865096-11865097	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547258005	chr18:11865128-11865129	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs2855643	chr18:11865137-11865138	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs141420444	chr18:11865153-11865154	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs2855644	chr18:11865155-11865156	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs183963184	chr18:11865160-11865161	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186996168	chr18:11865161-11865162	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs150812748	chr18:11865177-11865178	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs80121647	chr18:11865194-11865195	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Acute lymphoblastic leukemia	20435627	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
2	chr18:11853600-11883800	Weak transcription	Ovary	ovary
3	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain
4	chr18:11854000-11875000	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:11854000-11884200	Weak transcription	Brain Angular Gyrus	brain
6	chr18:11854200-11868200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr18:11854400-11868400	Weak transcription	Primary B cells from cord blood	blood
8	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
9	chr18:11855400-11875400	Weak transcription	Fetal Stomach	stomach
10	chr18:11855600-11880800	Weak transcription	Fetal Brain Female	brain
11	chr18:11856600-11865000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr18:11857600-11872800	Weak transcription	Left Ventricle	heart
13	chr18:11857800-11866000	Weak transcription	Brain Anterior Caudate	brain
14	chr18:11857800-11867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:11857800-11868400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:11857800-11875200	Weak transcription	Brain Germinal Matrix	brain
17	chr18:11857800-11876400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr18:11858000-11865000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:11858000-11868400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:11858000-11868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:11858200-11884000	Weak transcription	Colon Smooth Muscle	Colon
22	chr18:11858600-11868400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:11858600-11875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:11858600-11879400	Weak transcription	Adipose Nuclei	Adipose
25	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr18:11859200-11875600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr18:11859600-11866600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:11860200-11875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:11860200-11875400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:11860800-11864600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr18:11860800-11865400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:11860800-11868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:11861000-11880800	Weak transcription	Esophagus	oesophagus
34	chr18:11861600-11873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:11861800-11872600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
37	chr18:11862000-11865200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:11862400-11871400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:11862400-11879200	Weak transcription	Spleen	Spleen
40	chr18:11862600-11872000	Weak transcription	Hela-S3	cervix
41	chr18:11862800-11865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:11864400-11865000	Enhancers	HepG2	liver
43	chr18:11864400-11867400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:11864600-11867400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:11865000-11866400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr18:11865000-11870200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:11865200-11865400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr18:11865400-11865800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:11865400-11868200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:11865400-11874200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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