Variant report

Variant	esv3423285
Chromosome Location	chr9:140697431-140701729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:140689938..140692282-chr9:140694934..140697761,2	MCF-7	breast:
2	chr9:140699377..140703481-chr9:140712801..140716368,4	K562	blood:
3	chr9:140700744..140703518-chr9:140712352..140715179,2	K562	blood:
4	chr9:140692420..140694081-chr9:140698871..140701591,2	K562	blood:
5	chr9:140700980..140705198-chr9:140707876..140710677,3	K562	blood:

Variant related genes	Relation type
ENSG00000181090	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs576202564	chr9:140697432-140697433	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554325730	chr9:140697482-140697483	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577158915	chr9:140697489-140697490	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555858242	chr9:140697511-140697512	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115411569	chr9:140697528-140697529	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372725410	chr9:140697530-140697531	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377318643	chr9:140697531-140697532	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564480709	chr9:140697532-140697533	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566094367	chr9:140697582-140697583	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78073112	chr9:140697595-140697596	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563792560	chr9:140697601-140697602	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539740590	chr9:140697701-140697702	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183876959	chr9:140697754-140697755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568191995	chr9:140697756-140697757	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527397378	chr9:140697761-140697762	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142613189	chr9:140697769-140697770	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556390075	chr9:140697815-140697816	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs569597910	chr9:140697816-140697817	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs59672293	chr9:140697817-140697818	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556457843	chr9:140697837-140697838	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs77345910	chr9:140697842-140697843	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542170577	chr9:140697924-140697925	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150550672	chr9:140697926-140697927	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs72766962	chr9:140697937-140697938	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572165910	chr9:140697941-140697942	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541540782	chr9:140697946-140697947	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572489381	chr9:140697957-140697958	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558254284	chr9:140698061-140698062	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75731585	chr9:140698116-140698117	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs543821592	chr9:140698159-140698160	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs540911208	chr9:140698190-140698191	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535455221	chr9:140698281-140698282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60455714	chr9:140698287-140698288	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs77496784	chr9:140698288-140698289	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200698426	chr9:140698289-140698290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80127152	chr9:140698290-140698291	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75724851	chr9:140698292-140698293	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574245873	chr9:140698300-140698301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80103474	chr9:140698306-140698307	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75269939	chr9:140698308-140698309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79784442	chr9:140698309-140698310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28595313	chr9:140698366-140698367	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369352015	chr9:140698376-140698377	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559703230	chr9:140698387-140698388	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528636491	chr9:140698399-140698400	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547108021	chr9:140698419-140698420	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139520906	chr9:140698461-140698462	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113543282	chr9:140698543-140698544	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553816459	chr9:140698554-140698555	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs11791089	chr9:140698569-140698570	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	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:288 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140649800-140712400	Weak transcription	Psoas Muscle	Psoas
2	chr9:140650200-140700000	Strong transcription	Primary T cells from cord blood	blood
3	chr9:140664200-140698600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr9:140664200-140701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:140664600-140708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:140664800-140700000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:140665000-140700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:140665200-140702000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:140665400-140697800	Strong transcription	Thymus	Thymus
10	chr9:140665400-140700800	Strong transcription	Fetal Stomach	stomach
11	chr9:140667200-140698000	Strong transcription	Dnd41	blood
12	chr9:140667200-140699000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:140668200-140698000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr9:140668200-140699000	Strong transcription	Esophagus	oesophagus
15	chr9:140668200-140700000	Strong transcription	Fetal Brain Female	brain
16	chr9:140675600-140698600	Strong transcription	Placenta	Placenta
17	chr9:140676400-140699400	Weak transcription	Fetal Heart	heart
18	chr9:140679600-140700000	Strong transcription	Fetal Muscle Leg	muscle
19	chr9:140679600-140710200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:140680600-140700000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:140681000-140711400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:140681200-140700000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:140681200-140704400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr9:140681200-140704600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:140681400-140698400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:140681400-140699200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr9:140681400-140699800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:140681400-140699800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:140681600-140700200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:140682400-140699200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr9:140683000-140700200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr9:140683600-140698200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:140683600-140698400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr9:140683600-140704200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:140683800-140698800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr9:140683800-140700000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:140684200-140699800	Strong transcription	Fetal Intestine Small	intestine
38	chr9:140684200-140703200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr9:140684600-140698600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:140684600-140699800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:140684600-140700000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:140684600-140702800	Strong transcription	Fetal Intestine Large	intestine
43	chr9:140684800-140697600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr9:140684800-140698200	Strong transcription	NHEK	skin
45	chr9:140684800-140699200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr9:140684800-140699800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:140684800-140699800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:140684800-140700000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:140684800-140700000	Strong transcription	Adipose Nuclei	Adipose
50	chr9:140684800-140700000	Strong transcription	Duodenum Mucosa	Duodenum

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