Variant report

Variant	esv3391775
Chromosome Location	chr9:140391531-140395729
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140388746..140391372-chr9:140393329..140396461,4	K562	blood:
2	chr9:140386948..140388697-chr9:140392621..140394758,2	K562	blood:
3	chr9:140316157..140317682-chr9:140392113..140394571,2	MCF-7	breast:
4	chr9:140195190..140197840-chr9:140394883..140396750,3	MCF-7	breast:
5	chr9:140347379..140350027-chr9:140394775..140397563,4	K562	blood:
6	chr9:140385364..140389907-chr9:140391534..140397085,5	MCF-7	breast:
7	chr9:140371350..140374259-chr9:140395639..140397162,2	MCF-7	breast:
8	chr9:140392839..140394933-chr9:140399102..140401511,2	K562	blood:
9	chr9:140195340..140197334-chr9:140395101..140397465,2	K562	blood:
10	chr9:140390861..140392833-chr9:140394887..140396541,2	MCF-7	breast:
11	chr9:140379847..140381560-chr9:140394727..140396348,2	MCF-7	breast:
12	chr9:140390425..140392825-chr9:140393171..140396140,3	MCF-7	breast:
13	chr9:140390425..140392825-chr9:140393171..140396140,3	MCF-7	breast:
14	chr9:140352543..140355351-chr9:140391040..140393280,2	K562	blood:
15	chr9:140348925..140356512-chr9:140392643..140399279,11	MCF-7	breast:
16	chr9:140385373..140390339-chr9:140393084..140398390,8	MCF-7	breast:
17	chr9:140381904..140384229-chr9:140391274..140393120,2	MCF-7	breast:
18	chr9:140390861..140392833-chr9:140394887..140396541,2	MCF-7	breast:
19	chr9:140189399..140191424-chr9:140391666..140393367,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260996	chromatin interactions
ENSG00000130653	chromatin interactions
ENSG00000165802	chromatin interactions
ENSG00000198435	chromatin interactions
ENSG00000187609	chromatin interactions

Extended variants
information (count: 272 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564474027	chr9:140391578-140391579	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142989956	chr9:140391608-140391609	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192764940	chr9:140391610-140391611	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371359918	chr9:140391616-140391617	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141876372	chr9:140391641-140391642	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150641100	chr9:140391659-140391660	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369306700	chr9:140391662-140391663	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532244437	chr9:140391663-140391664	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs578055213	chr9:140391679-140391680	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs61747296	chr9:140391690-140391691	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568985589	chr9:140391691-140391692	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141947742	chr9:140391694-140391695	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs537805357	chr9:140391722-140391723	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376273615	chr9:140391723-140391724	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199778506	chr9:140391737-140391738	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146316175	chr9:140391739-140391740	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113833294	chr9:140391744-140391745	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369232623	chr9:140391746-140391747	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150070984	chr9:140391757-140391758	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184419448	chr9:140391767-140391768	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371490451	chr9:140391772-140391773	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200162686	chr9:140391781-140391782	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187756030	chr9:140391783-140391784	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200311324	chr9:140391789-140391790	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs117132960	chr9:140391792-140391793	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148260126	chr9:140391863-140391864	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559961163	chr9:140391865-140391866	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs571621194	chr9:140391979-140391980	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567847663	chr9:140391982-140391983	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374698363	chr9:140391988-140391989	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374440813	chr9:140392002-140392003	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs193250512	chr9:140392019-140392020	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545702156	chr9:140392042-140392043	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112048883	chr9:140392045-140392046	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs141269506	chr9:140392082-140392083	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564776836	chr9:140392124-140392125	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs4962235	chr9:140392137-140392138	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111674210	chr9:140392191-140392192	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs139137063	chr9:140392204-140392205	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs568942410	chr9:140392237-140392238	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs531461570	chr9:140392238-140392239	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs547859200	chr9:140392271-140392272	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs568086282	chr9:140392280-140392281	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs533840751	chr9:140392326-140392327	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs71493672	chr9:140392334-140392335	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs4962233	chr9:140392335-140392336	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539219770	chr9:140392362-140392363	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs555968921	chr9:140392394-140392395	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs149496894	chr9:140392406-140392407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs535985872	chr9:140392461-140392462	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140373800-140396000	Weak transcription	Esophagus	oesophagus
2	chr9:140375000-140392200	Weak transcription	Brain Angular Gyrus	brain
3	chr9:140376800-140444000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:140377000-140393400	Weak transcription	Brain Substantia Nigra	brain
5	chr9:140377000-140394400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:140377000-140437000	Weak transcription	Left Ventricle	heart
7	chr9:140377200-140393800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:140377200-140420200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:140377400-140393200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:140381600-140396600	Strong transcription	Liver	Liver
11	chr9:140382600-140397400	Weak transcription	Lung	lung
12	chr9:140384600-140397600	Strong transcription	Ovary	ovary
13	chr9:140386000-140393000	Weak transcription	Primary B cells from cord blood	blood
14	chr9:140386400-140392400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr9:140386600-140403200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:140386600-140403400	Weak transcription	Aorta	Aorta
17	chr9:140386800-140393600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:140388400-140393200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:140388400-140397600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:140388400-140404000	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:140388400-140425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:140388600-140394400	Weak transcription	Fetal Intestine Small	intestine
23	chr9:140388600-140395800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:140388800-140396600	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:140389000-140392800	Weak transcription	Colonic Mucosa	Colon
26	chr9:140389000-140403800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:140389200-140393600	Weak transcription	K562	blood
28	chr9:140389200-140396400	Strong transcription	Adipose Nuclei	Adipose
29	chr9:140389400-140393000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:140389600-140392400	Weak transcription	Pancreas	Pancrea
31	chr9:140389600-140393600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr9:140389600-140395200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:140389800-140391600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:140390000-140394400	Weak transcription	Fetal Stomach	stomach
35	chr9:140390200-140392800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:140390400-140391600	Weak transcription	Gastric	stomach
37	chr9:140390400-140400600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:140391000-140396400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:140391200-140396200	Strong transcription	Right Ventricle	heart
40	chr9:140391400-140391800	Strong transcription	Brain Anterior Caudate	brain
41	chr9:140391400-140392000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:140391400-140395200	Strong transcription	Spleen	Spleen
43	chr9:140391600-140395200	Strong transcription	Gastric	stomach
44	chr9:140391600-140396400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr9:140391800-140394600	Weak transcription	Brain Anterior Caudate	brain
46	chr9:140392000-140393200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr9:140392000-140393800	Enhancers	Fetal Brain Male	brain
48	chr9:140392000-140425800	Weak transcription	Primary T cells from cord blood	blood
49	chr9:140392200-140392600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:140392200-140394800	Strong transcription	Brain Angular Gyrus	brain

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