Variant report

Variant	esv1824059
Chromosome Location	chr9:99557743-99589296
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:99578364..99581009-chr9:99603434..99605599,2	K562	blood:
2	chr9:99565224..99567212-chr9:99575605..99578267,2	K562	blood:
3	chr9:99575445..99578387-chr9:99580143..99581802,2	K562	blood:
4	chr9:99538893..99540481-chr9:99565907..99567798,2	MCF-7	breast:
5	chr9:99575445..99578387-chr9:99580143..99581802,2	K562	blood:
6	chr9:99564991..99567645-chr9:99571587..99574162,2	MCF-7	breast:
7	chr9:99565224..99567212-chr9:99575605..99578267,2	K562	blood:
8	chr9:99573109..99575128-chr9:99575257..99578036,2	K562	blood:
9	chr9:99524920..99527635-chr9:99581689..99584661,3	K562	blood:
10	chr9:99573109..99575128-chr9:99575257..99578036,2	K562	blood:
11	chr9:99564991..99567645-chr9:99571587..99574162,2	MCF-7	breast:
12	chr9:99573486..99575260-chr9:99580338..99582751,2	K562	blood:
13	chr9:99573486..99575260-chr9:99580338..99582751,2	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: 1060 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1060 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7864360	chr9:99557743-99557744	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184466540	chr9:99557839-99557840	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189833518	chr9:99557917-99557918	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557783841	chr9:99557947-99557948	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78960000	chr9:99557973-99557974	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199628049	chr9:99557979-99557980	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398011568	chr9:99557997-99557998	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371020772	chr9:99558002-99558003	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374365429	chr9:99558005-99558006	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375666014	chr9:99558008-99558009	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113480198	chr9:99558080-99558081	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139009722	chr9:99558114-99558115	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550002653	chr9:99558145-99558146	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571504075	chr9:99558213-99558214	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117490925	chr9:99558249-99558250	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568638943	chr9:99558399-99558400	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554615833	chr9:99558423-99558424	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10979043	chr9:99558428-99558429	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537531578	chr9:99558450-99558451	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565954585	chr9:99558464-99558465	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34689871	chr9:99558469-99558470	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536620732	chr9:99558538-99558539	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78369496	chr9:99558544-99558545	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570196882	chr9:99558612-99558613	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537530253	chr9:99558635-99558636	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10979044	chr9:99558636-99558637	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577063285	chr9:99558703-99558704	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534620018	chr9:99558745-99558746	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373788930	chr9:99558804-99558805	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553206520	chr9:99558824-99558825	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574625003	chr9:99558829-99558830	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541847349	chr9:99558872-99558873	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368539540	chr9:99558876-99558877	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181442815	chr9:99558898-99558899	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10816572	chr9:99558915-99558916	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78543770	chr9:99558951-99558952	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79159258	chr9:99558962-99558963	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7030131	chr9:99559020-99559021	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532535417	chr9:99559021-99559022	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72745892	chr9:99559024-99559025	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186824462	chr9:99559132-99559133	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190658281	chr9:99559223-99559224	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556793518	chr9:99559235-99559236	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117631776	chr9:99559246-99559247	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544088096	chr9:99559289-99559290	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143879455	chr9:99559303-99559304	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552660469	chr9:99559305-99559306	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570684130	chr9:99559315-99559316	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181837628	chr9:99559322-99559323	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34814401	chr9:99559332-99559333	ZNF genes & repeats Weak transcription Strong transcription	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:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99552000-99560400	ZNF genes & repeats	Liver	Liver
2	chr9:99552200-99559200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:99552200-99559400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:99555200-99559200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:99555200-99559200	ZNF genes & repeats	Colon Smooth Muscle	Colon
6	chr9:99555200-99559400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:99555200-99559400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr9:99555200-99560400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr9:99555400-99559400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr9:99555600-99559200	ZNF genes & repeats	Fetal Lung	lung
11	chr9:99555600-99559400	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr9:99555600-99559400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
13	chr9:99556000-99559400	ZNF genes & repeats	Fetal Brain Female	brain
14	chr9:99556400-99559000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr9:99556400-99559200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:99556400-99559200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:99556400-99559400	ZNF genes & repeats	HSMM	muscle
18	chr9:99556600-99557800	Weak transcription	Fetal Heart	heart
19	chr9:99556600-99558800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr9:99556600-99559000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:99556600-99559200	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr9:99556600-99559200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr9:99556600-99559200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr9:99556600-99559200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:99556600-99559200	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr9:99556600-99559200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr9:99556600-99559400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr9:99556600-99559400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
29	chr9:99556600-99559400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr9:99556800-99558000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:99556800-99558000	ZNF genes & repeats	Fetal Kidney	kidney
32	chr9:99556800-99558400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
33	chr9:99556800-99558600	ZNF genes & repeats	HSMMtube	muscle
34	chr9:99556800-99559000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr9:99556800-99559000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
36	chr9:99556800-99559000	ZNF genes & repeats	Small Intestine	intestine
37	chr9:99556800-99559200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr9:99556800-99559200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr9:99556800-99559200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
40	chr9:99556800-99559200	ZNF genes & repeats	Aorta	Aorta
41	chr9:99556800-99559200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
42	chr9:99556800-99559200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
43	chr9:99556800-99559200	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr9:99556800-99559200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
45	chr9:99556800-99559400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr9:99556800-99559400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:99556800-99559400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:99556800-99559400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:99556800-99559400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:99556800-99559400	ZNF genes & repeats	Brain Germinal Matrix	brain

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