Variant report

Variant	esv1816205
Chromosome Location	chr9:99567384-99583394
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:99565224..99567212-chr9:99575605..99578267,2	K562	blood:
2	chr9:99573109..99575128-chr9:99575257..99578036,2	K562	blood:
3	chr9:99575445..99578387-chr9:99580143..99581802,2	K562	blood:
4	chr9:99578364..99581009-chr9:99603434..99605599,2	K562	blood:
5	chr9:99524920..99527635-chr9:99581689..99584661,3	K562	blood:
6	chr9:99573486..99575260-chr9:99580338..99582751,2	K562	blood:
7	chr9:99538893..99540481-chr9:99565907..99567798,2	MCF-7	breast:
8	chr9:99564991..99567645-chr9:99571587..99574162,2	MCF-7	breast:
9	chr9:99564991..99567645-chr9:99571587..99574162,2	MCF-7	breast:
10	chr9:99575445..99578387-chr9:99580143..99581802,2	K562	blood:
11	chr9:99573486..99575260-chr9:99580338..99582751,2	K562	blood:
12	chr9:99573109..99575128-chr9:99575257..99578036,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF510-4	chr9:99581690-99582060	NONHSAT133446

No data

Variant related genes	Relation type
ENSG00000081386	chromatin interactions

Extended variants
information (count: 609 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10124911	chr9:99567384-99567385	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574061510	chr9:99567421-99567422	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541547945	chr9:99567422-99567423	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372485886	chr9:99567448-99567449	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574981813	chr9:99567464-99567465	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182151805	chr9:99567514-99567515	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565337001	chr9:99567562-99567563	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532845233	chr9:99567586-99567587	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541319820	chr9:99567601-99567602	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374459782	chr9:99567630-99567631	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377670474	chr9:99567633-99567634	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185897791	chr9:99567684-99567685	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548578683	chr9:99567835-99567836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs73536698	chr9:99567947-99567948	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs199587240	chr9:99567966-99567967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs202097830	chr9:99567969-99567970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200074850	chr9:99567971-99567972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200991765	chr9:99567972-99567973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200478035	chr9:99567974-99567975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201625886	chr9:99567978-99567979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200108738	chr9:99567979-99567980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs397773431	chr9:99567983-99567984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552393735	chr9:99567986-99567987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190862787	chr9:99567987-99567988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs534934582	chr9:99568036-99568037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550216712	chr9:99568156-99568157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552964516	chr9:99568175-99568176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145358556	chr9:99568209-99568210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs148731915	chr9:99568228-99568229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs535114211	chr9:99568238-99568239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556532151	chr9:99568273-99568274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs568690042	chr9:99568283-99568284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117827562	chr9:99568296-99568297	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs141909205	chr9:99568321-99568322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545535018	chr9:99568334-99568335	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559114056	chr9:99568346-99568347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577331157	chr9:99568476-99568477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71499969	chr9:99568491-99568492	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541729153	chr9:99568492-99568493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369531984	chr9:99568618-99568619	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11562317	chr9:99568735-99568736	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs11534219	chr9:99568763-99568764	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563668354	chr9:99568778-99568779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531028156	chr9:99568806-99568807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201659426	chr9:99568837-99568838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7047095	chr9:99568889-99568890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75746273	chr9:99568904-99568905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552357049	chr9:99568920-99568921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs370214382	chr9:99568933-99568934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200067179	chr9:99569016-99569017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99559200-99567400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:99560400-99568000	Weak transcription	Fetal Stomach	stomach
3	chr9:99564400-99567400	Weak transcription	K562	blood
4	chr9:99565400-99572200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:99565400-99586200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:99565600-99567600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:99565600-99568400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr9:99565600-99586400	ZNF genes & repeats	Liver	Liver
9	chr9:99566000-99568000	Weak transcription	HSMM	muscle
10	chr9:99566200-99569000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:99566200-99570600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:99566400-99567600	Weak transcription	Brain Germinal Matrix	brain
13	chr9:99566400-99568000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:99566400-99568800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:99566400-99569000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:99566400-99570000	Weak transcription	Left Ventricle	heart
17	chr9:99566400-99572600	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:99566400-99573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:99566600-99570000	Weak transcription	Fetal Kidney	kidney
20	chr9:99566800-99569000	Weak transcription	Fetal Lung	lung
21	chr9:99567600-99570200	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr9:99569000-99569200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:99569000-99569200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:99569000-99569600	ZNF genes & repeats	Fetal Lung	lung
25	chr9:99569200-99569600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:99569600-99570400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr9:99569600-99571200	Weak transcription	Fetal Lung	lung
28	chr9:99569600-99571400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
29	chr9:99570000-99570600	Strong transcription	Left Ventricle	heart
30	chr9:99570200-99570800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:99570600-99571600	Weak transcription	Left Ventricle	heart
32	chr9:99572600-99573000	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr9:99572600-99575800	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr9:99572600-99586200	ZNF genes & repeats	Brain Hippocampus Middle	brain
35	chr9:99572800-99586200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:99573600-99573800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:99574400-99586400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:99575200-99575400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:99576200-99586200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
40	chr9:99576200-99586200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr9:99576600-99576800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr9:99576600-99586200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:99576600-99586200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr9:99576800-99578200	Weak transcription	Brain Germinal Matrix	brain
45	chr9:99577000-99586200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr9:99577000-99586200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:99577200-99577400	ZNF genes & repeats	Left Ventricle	heart
48	chr9:99577200-99582000	ZNF genes & repeats	HSMM	muscle
49	chr9:99577200-99586200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:99577400-99579000	Weak transcription	Left Ventricle	heart

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