Variant report

Variant	esv3393081
Chromosome Location	chr18:9731352-9734450
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9705672..9708161-chr18:9732147..9734468,2	K562	blood:
2	chr18:9733101..9737818-chr18:9912631..9916013,5	MCF-7	breast:
3	chr18:9684743..9687685-chr18:9730508..9732228,2	K562	blood:
4	chr18:9732492..9734472-chr18:9738392..9739946,2	MCF-7	breast:
5	chr18:9723813..9726677-chr18:9730594..9733052,4	K562	blood:
6	chr18:9727087..9729613-chr18:9731693..9733539,2	MCF-7	breast:
7	chr18:9729977..9732363-chr18:9736076..9738705,2	MCF-7	breast:
8	chr18:9705049..9708161-chr18:9732147..9734824,4	K562	blood:
9	chr18:9710094..9711758-chr18:9728271..9731556,3	K562	blood:
10	chr18:9729801..9734726-chr18:9735904..9739407,5	K562	blood:
11	chr18:9728140..9730225-chr18:9731691..9733980,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101558	chromatin interactions
ENSG00000272799	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12606246	chr18:9731357-9731358	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12606126	chr18:9731397-9731398	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558053099	chr18:9731412-9731413	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572705551	chr18:9731424-9731425	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539853932	chr18:9731440-9731441	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139532395	chr18:9731474-9731475	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149659815	chr18:9731501-9731502	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62078924	chr18:9731545-9731546	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs534141637	chr18:9731593-9731594	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10685568	chr18:9731594-9731595	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398031970	chr18:9731612-9731613	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80337650	chr18:9731613-9731614	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562925717	chr18:9731633-9731634	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145470668	chr18:9731638-9731639	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181225424	chr18:9731665-9731666	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560848782	chr18:9731668-9731669	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528030812	chr18:9731737-9731738	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549394159	chr18:9731768-9731769	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567691703	chr18:9731852-9731853	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531820861	chr18:9731860-9731861	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112030122	chr18:9731865-9731866	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2017080	chr18:9731915-9731916	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568928482	chr18:9731923-9731924	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539621246	chr18:9731928-9731929	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62078925	chr18:9731945-9731946	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566422824	chr18:9731970-9731971	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376044249	chr18:9732045-9732046	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533882722	chr18:9732051-9732052	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186251725	chr18:9732073-9732074	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2864780	chr18:9732077-9732078	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12957807	chr18:9732104-9732105	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs8084104	chr18:9732124-9732125	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs8089464	chr18:9732209-9732210	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs148471961	chr18:9732215-9732216	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191093199	chr18:9732219-9732220	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117645521	chr18:9732222-9732223	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527967192	chr18:9732237-9732238	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34941590	chr18:9732239-9732240	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs552209784	chr18:9732244-9732245	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561230111	chr18:9732265-9732266	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146847520	chr18:9732276-9732277	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546431884	chr18:9732280-9732281	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138724948	chr18:9732283-9732284	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531759119	chr18:9732288-9732289	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549958632	chr18:9732299-9732300	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565718449	chr18:9732324-9732325	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113373757	chr18:9732339-9732340	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs68072854	chr18:9732340-9732341	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11281439	chr18:9732342-9732343	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6506684	chr18:9732373-9732374	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9710200-9733600	Weak transcription	Left Ventricle	heart
2	chr18:9710400-9732000	Weak transcription	Fetal Stomach	stomach
3	chr18:9712800-9732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:9713600-9732200	Weak transcription	Adipose Nuclei	Adipose
5	chr18:9716800-9732400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:9717200-9732000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr18:9718200-9732000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr18:9718200-9732600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr18:9719000-9732000	Weak transcription	HSMMtube	muscle
10	chr18:9719800-9733600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:9719800-9734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:9720000-9737400	Weak transcription	Brain Anterior Caudate	brain
13	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:9720600-9732000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:9720600-9733600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:9720600-9734200	Weak transcription	HUVEC	blood vessel
17	chr18:9720800-9737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr18:9721000-9741600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:9721200-9737200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:9721800-9737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:9722400-9733400	Weak transcription	Right Ventricle	heart
22	chr18:9722400-9734400	Weak transcription	Colonic Mucosa	Colon
23	chr18:9723400-9732200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr18:9723800-9734200	Weak transcription	Fetal Lung	lung
25	chr18:9724000-9732000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:9724000-9737200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:9725000-9732000	Weak transcription	Ovary	ovary
28	chr18:9725000-9732200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:9725000-9737600	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:9725600-9732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:9725600-9733600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr18:9726200-9734200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:9726400-9732000	Weak transcription	Lung	lung
34	chr18:9726400-9732200	Weak transcription	Aorta	Aorta
35	chr18:9726400-9732200	Weak transcription	Spleen	Spleen
36	chr18:9726600-9732000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:9726600-9732000	Weak transcription	Brain Substantia Nigra	brain
38	chr18:9726600-9732000	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:9726600-9732400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:9727200-9732200	Weak transcription	Fetal Muscle Leg	muscle
41	chr18:9727200-9732200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr18:9727200-9733600	Weak transcription	Esophagus	oesophagus
43	chr18:9728800-9732000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:9729600-9731600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:9730000-9731600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr18:9730400-9732200	Enhancers	NHDF-Ad	bronchial
47	chr18:9730600-9731400	Enhancers	A549	lung
48	chr18:9730600-9731400	Enhancers	NHLF	lung
49	chr18:9730600-9731800	Enhancers	Hela-S3	cervix
50	chr18:9730600-9732000	Enhancers	Primary neutrophils fromperipheralblood	blood

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