Variant report

Variant	esv3514256
Chromosome Location	chr9:140712331-140715029
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	chr9:140706148..140709058-chr9:140712432..140716292,4	K562	blood:
3	chr9:140713786..140716725-chr9:140719882..140722951,3	K562	blood:
4	chr9:140706148..140707731-chr9:140712808..140715644,2	K562	blood:
5	chr9:140699377..140703481-chr9:140712801..140716368,4	K562	blood:

Variant related genes	Relation type
ENSG00000181090	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568716786	chr9:140712338-140712339	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs181612665	chr9:140712350-140712351	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542513676	chr9:140712356-140712357	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562161128	chr9:140712365-140712366	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs527870764	chr9:140712370-140712371	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539983868	chr9:140712386-140712387	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10283760	chr9:140712387-140712388	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532022988	chr9:140712459-140712460	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376124897	chr9:140712471-140712472	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377215233	chr9:140712472-140712473	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372108254	chr9:140712473-140712474	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374530210	chr9:140712491-140712492	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376440911	chr9:140712492-140712493	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186747522	chr9:140712498-140712499	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374317041	chr9:140712508-140712509	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200090916	chr9:140712539-140712540	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148485081	chr9:140712545-140712546	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374902198	chr9:140712548-140712549	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs121918301	chr9:140712552-140712553	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367655246	chr9:140712581-140712582	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371824384	chr9:140712582-140712583	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191591683	chr9:140712663-140712664	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182880581	chr9:140712664-140712665	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568315032	chr9:140712674-140712675	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369982066	chr9:140712697-140712698	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145281244	chr9:140712719-140712720	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554019406	chr9:140712742-140712743	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147635474	chr9:140712761-140712762	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539895503	chr9:140712764-140712765	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556618226	chr9:140712789-140712790	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533577713	chr9:140712823-140712824	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576471980	chr9:140712851-140712852	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566205855	chr9:140712880-140712881	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117006193	chr9:140712918-140712919	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145928551	chr9:140712933-140712934	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs57539972	chr9:140712947-140712948	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs71510840	chr9:140712952-140712953	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572599901	chr9:140712958-140712959	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541607216	chr9:140712963-140712964	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376200089	chr9:140712966-140712967	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71512823	chr9:140712967-140712968	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71510842	chr9:140712977-140712978	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564484348	chr9:140712983-140712984	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114830835	chr9:140712984-140712985	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs71485029	chr9:140712989-140712990	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71510841	chr9:140713000-140713001	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11792193	chr9:140713003-140713004	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs13295554	chr9:140713015-140713016	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11790628	chr9:140713022-140713023	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11792196	chr9:140713027-140713028	Weak transcription ZNF genes & repeats Strong transcription	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:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140649800-140712400	Weak transcription	Psoas Muscle	Psoas
2	chr9:140693200-140714600	Weak transcription	Right Atrium	heart
3	chr9:140699800-140719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:140701000-140716400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:140702000-140713200	Strong transcription	Stomach Smooth Muscle	stomach
6	chr9:140702200-140716600	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:140702200-140717200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:140702400-140712400	Strong transcription	Liver	Liver
9	chr9:140702400-140712600	Strong transcription	Fetal Lung	lung
10	chr9:140702400-140713000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:140702400-140713200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr9:140702400-140715000	Strong transcription	Gastric	stomach
13	chr9:140702600-140713000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr9:140702600-140714600	Strong transcription	Right Ventricle	heart
15	chr9:140703000-140717000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr9:140703600-140713400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:140703800-140712600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:140703800-140713400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:140704000-140713200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:140705400-140715800	Strong transcription	Brain Germinal Matrix	brain
21	chr9:140705600-140713000	Strong transcription	Dnd41	blood
22	chr9:140705600-140716800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr9:140705600-140717000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr9:140705600-140717000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:140705600-140717000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr9:140705800-140713000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:140705800-140713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:140705800-140713000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:140705800-140713000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:140705800-140713000	Strong transcription	Brain Substantia Nigra	brain
31	chr9:140705800-140713000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:140705800-140713000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:140705800-140713200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:140705800-140713200	Strong transcription	Adipose Nuclei	Adipose
35	chr9:140705800-140713200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr9:140705800-140713400	Strong transcription	Rectal Smooth Muscle	rectum
37	chr9:140705800-140717000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr9:140705800-140717000	Strong transcription	Left Ventricle	heart
39	chr9:140706000-140712800	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr9:140706000-140713000	Strong transcription	Fetal Thymus	thymus
41	chr9:140706000-140713000	Strong transcription	Pancreas	Pancrea
42	chr9:140706000-140713200	Strong transcription	Ovary	ovary
43	chr9:140706200-140713000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:140706200-140713000	Strong transcription	Brain Cingulate Gyrus	brain
45	chr9:140706200-140713000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:140706200-140717000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:140706400-140716000	Strong transcription	Fetal Muscle Leg	muscle
48	chr9:140706600-140712400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:140706600-140713000	Strong transcription	Brain Hippocampus Middle	brain
50	chr9:140706800-140712800	Strong transcription	HepG2	liver

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