Variant report

Variant	esv3405323
Chromosome Location	chr18:13261252-13267450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:13266361..13268440-chr18:13277761..13279808,2	MCF-7	breast:
2	chr18:13266595..13268612-chr18:13295216..13296927,2	MCF-7	breast:
3	chr18:13246195..13248489-chr18:13263475..13266169,2	MCF-7	breast:
4	chr18:13218493..13221302-chr18:13265776..13268061,2	MCF-7	breast:
5	chr18:13241631..13244268-chr18:13265923..13268716,3	MCF-7	breast:
6	chr18:13215870..13219529-chr18:13264681..13269874,5	MCF-7	breast:
7	chr18:13256760..13258434-chr18:13266130..13268754,2	MCF-7	breast:
8	chr18:13221636..13223184-chr18:13266947..13269531,2	MCF-7	breast:
9	chr18:13261882..13264045-chr18:13540401..13542351,2	MCF-7	breast:
10	chr18:13256588..13259291-chr18:13265389..13268353,2	MCF-7	breast:
11	chr18:13265432..13267712-chr18:13286156..13288940,2	MCF-7	breast:
12	chr18:13263986..13266782-chr18:13271778..13275109,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267239	chromatin interactions
ENSG00000168675	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186022430	chr18:13261257-13261258	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574209783	chr18:13261274-13261275	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544597062	chr18:13261298-13261299	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138118404	chr18:13261313-13261314	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578073748	chr18:13261342-13261343	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531759732	chr18:13261378-13261379	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368183570	chr18:13261473-13261474	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144143308	chr18:13261495-13261496	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560543638	chr18:13261551-13261552	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559680829	chr18:13261562-13261563	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527499754	chr18:13261576-13261577	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549160555	chr18:13261613-13261614	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147325738	chr18:13261614-13261615	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190943437	chr18:13261642-13261643	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150981493	chr18:13261652-13261653	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549785503	chr18:13261668-13261669	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571138443	chr18:13261681-13261682	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34774182	chr18:13261696-13261697	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117094623	chr18:13261730-13261731	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140950407	chr18:13261746-13261747	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183273503	chr18:13261769-13261770	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111765036	chr18:13261793-13261794	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534133766	chr18:13261797-13261798	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187803190	chr18:13261848-13261849	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9965848	chr18:13261896-13261897	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556549875	chr18:13261902-13261903	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369248562	chr18:13261922-13261923	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578086515	chr18:13261925-13261926	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114739281	chr18:13261964-13261965	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201131402	chr18:13261998-13261999	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62097314	chr18:13262028-13262029	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374737776	chr18:13262032-13262033	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71353255	chr18:13262038-13262039	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9748236	chr18:13262039-13262040	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9748242	chr18:13262058-13262059	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373311648	chr18:13262059-13262060	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs9748644	chr18:13262062-13262063	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572528734	chr18:13262069-13262070	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs60178302	chr18:13262101-13262102	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71215204	chr18:13262118-13262119	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9748243	chr18:13262119-13262120	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62097315	chr18:13262128-13262129	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74193780	chr18:13262136-13262137	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182736843	chr18:13262148-13262149	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9748646	chr18:13262152-13262153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12955642	chr18:13262178-13262179	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs60494584	chr18:13262182-13262183	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs61396088	chr18:13262189-13262190	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111287341	chr18:13262193-13262194	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71215205	chr18:13262272-13262273	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13243600-13278200	Weak transcription	Dnd41	blood
2	chr18:13253000-13267800	Weak transcription	Gastric	stomach
3	chr18:13256200-13262400	Enhancers	Brain Anterior Caudate	brain
4	chr18:13256800-13268400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:13258600-13262200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr18:13258600-13262400	Enhancers	Fetal Heart	heart
7	chr18:13258600-13268600	Enhancers	Right Ventricle	heart
8	chr18:13258800-13261800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr18:13258800-13262000	Enhancers	Brain Cingulate Gyrus	brain
10	chr18:13258800-13262000	Enhancers	Fetal Muscle Leg	muscle
11	chr18:13258800-13262200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr18:13258800-13262200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:13258800-13262200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr18:13258800-13262200	Enhancers	Left Ventricle	heart
15	chr18:13258800-13262400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr18:13258800-13262400	Enhancers	Colon Smooth Muscle	Colon
17	chr18:13258800-13262400	Enhancers	Fetal Lung	lung
18	chr18:13258800-13262400	Enhancers	Placenta	Placenta
19	chr18:13258800-13262400	Enhancers	Spleen	Spleen
20	chr18:13258800-13262400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr18:13259000-13261600	Genic enhancers	Thymus	Thymus
22	chr18:13259000-13261800	Enhancers	Primary T cells from cord blood	blood
23	chr18:13259000-13262000	Enhancers	Fetal Stomach	stomach
24	chr18:13259000-13262200	Enhancers	Brain Hippocampus Middle	brain
25	chr18:13259000-13262200	Enhancers	Right Atrium	heart
26	chr18:13259200-13262000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:13259200-13262600	Enhancers	Lung	lung
28	chr18:13259200-13280000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr18:13259400-13261800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:13259600-13262200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:13259800-13261400	Enhancers	Duodenum Mucosa	Duodenum
32	chr18:13259800-13261600	Enhancers	Brain Germinal Matrix	brain
33	chr18:13259800-13262000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr18:13259800-13262200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr18:13259800-13262200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr18:13259800-13262400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr18:13259800-13262400	Enhancers	Primary hematopoietic stem cells	blood
38	chr18:13259800-13262400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr18:13259800-13262400	Enhancers	Brain Substantia Nigra	brain
40	chr18:13259800-13262400	Enhancers	Esophagus	oesophagus
41	chr18:13259800-13262400	Enhancers	Fetal Muscle Trunk	muscle
42	chr18:13259800-13267800	Enhancers	Fetal Brain Male	brain
43	chr18:13260000-13261400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr18:13260000-13262200	Enhancers	Brain Angular Gyrus	brain
45	chr18:13260000-13262400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr18:13260000-13263800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:13260000-13266200	Enhancers	Rectal Smooth Muscle	rectum
48	chr18:13260200-13261400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:13260200-13261600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:13260200-13262200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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