Variant report

Variant	esv3482910
Chromosome Location	chr9:140712838-140714143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:140700744..140703518-chr9:140712352..140715179,2	K562	blood:
2	chr9:140713786..140716725-chr9:140719882..140722951,3	K562	blood:
3	chr9:140706148..140707731-chr9:140712808..140715644,2	K562	blood:
4	chr9:140699377..140703481-chr9:140712801..140716368,4	K562	blood:
5	chr9:140706148..140709058-chr9:140712432..140716292,4	K562	blood:

Variant related genes	Relation type
ENSG00000181090	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576471980	chr9:140712851-140712852	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566205855	chr9:140712880-140712881	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117006193	chr9:140712918-140712919	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145928551	chr9:140712933-140712934	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57539972	chr9:140712947-140712948	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71510840	chr9:140712952-140712953	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572599901	chr9:140712958-140712959	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541607216	chr9:140712963-140712964	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376200089	chr9:140712966-140712967	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71512823	chr9:140712967-140712968	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71510842	chr9:140712977-140712978	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564484348	chr9:140712983-140712984	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114830835	chr9:140712984-140712985	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71485029	chr9:140712989-140712990	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71510841	chr9:140713000-140713001	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11792193	chr9:140713003-140713004	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13295554	chr9:140713015-140713016	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11790628	chr9:140713022-140713023	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11792196	chr9:140713027-140713028	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369722193	chr9:140713041-140713042	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562158269	chr9:140713050-140713051	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112483922	chr9:140713052-140713053	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs59454257	chr9:140713053-140713054	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376371859	chr9:140713054-140713055	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs58391414	chr9:140713057-140713058	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs60921690	chr9:140713065-140713066	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59458797	chr9:140713069-140713070	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112777766	chr9:140713076-140713077	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77690131	chr9:140713079-140713080	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75467010	chr9:140713081-140713082	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74743739	chr9:140713091-140713092	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111576898	chr9:140713095-140713096	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78465826	chr9:140713103-140713104	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531190130	chr9:140713117-140713118	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs75879801	chr9:140713129-140713130	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111561831	chr9:140713130-140713131	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370354321	chr9:140713141-140713142	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs71499184	chr9:140713152-140713153	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567318057	chr9:140713155-140713156	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71485032	chr9:140713167-140713168	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71510847	chr9:140713179-140713180	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370872280	chr9:140713191-140713192	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7470056	chr9:140713193-140713194	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12685088	chr9:140713204-140713205	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs71510848	chr9:140713205-140713206	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372713759	chr9:140713212-140713213	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71485031	chr9:140713217-140713218	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113417088	chr9:140713228-140713229	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71485030	chr9:140713231-140713232	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71510846	chr9:140713233-140713234	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 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:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140693200-140714600	Weak transcription	Right Atrium	heart
2	chr9:140699800-140719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:140701000-140716400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:140702000-140713200	Strong transcription	Stomach Smooth Muscle	stomach
5	chr9:140702200-140716600	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:140702200-140717200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:140702400-140713000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:140702400-140713200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr9:140702400-140715000	Strong transcription	Gastric	stomach
10	chr9:140702600-140713000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr9:140702600-140714600	Strong transcription	Right Ventricle	heart
12	chr9:140703000-140717000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr9:140703600-140713400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:140703800-140713400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:140704000-140713200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:140705400-140715800	Strong transcription	Brain Germinal Matrix	brain
17	chr9:140705600-140713000	Strong transcription	Dnd41	blood
18	chr9:140705600-140716800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr9:140705600-140717000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:140705600-140717000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:140705600-140717000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr9:140705800-140713000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:140705800-140713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:140705800-140713000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:140705800-140713000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:140705800-140713000	Strong transcription	Brain Substantia Nigra	brain
27	chr9:140705800-140713000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:140705800-140713000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:140705800-140713200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:140705800-140713200	Strong transcription	Adipose Nuclei	Adipose
31	chr9:140705800-140713200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr9:140705800-140713400	Strong transcription	Rectal Smooth Muscle	rectum
33	chr9:140705800-140717000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr9:140705800-140717000	Strong transcription	Left Ventricle	heart
35	chr9:140706000-140713000	Strong transcription	Fetal Thymus	thymus
36	chr9:140706000-140713000	Strong transcription	Pancreas	Pancrea
37	chr9:140706000-140713200	Strong transcription	Ovary	ovary
38	chr9:140706200-140713000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:140706200-140713000	Strong transcription	Brain Cingulate Gyrus	brain
40	chr9:140706200-140713000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:140706200-140717000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:140706400-140716000	Strong transcription	Fetal Muscle Leg	muscle
43	chr9:140706600-140713000	Strong transcription	Brain Hippocampus Middle	brain
44	chr9:140706800-140713000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr9:140706800-140713000	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr9:140707000-140713000	Strong transcription	Colon Smooth Muscle	Colon
47	chr9:140707000-140713200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:140707000-140715000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:140707000-140717000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:140707600-140713000	Strong transcription	Small Intestine	intestine

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