Variant report

Variant	esv3433705
Chromosome Location	chr9:93646181-93648279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93638591..93640127-chr9:93644373..93647334,2	K562	blood:

Extended variants
information (count: 210 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:210 , 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	rs567114806	chr9:93646186-93646187	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544783393	chr9:93646217-93646218	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371358198	chr9:93646266-93646267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189043522	chr9:93646309-93646310	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540033388	chr9:93646359-93646360	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553454174	chr9:93646365-93646366	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202005868	chr9:93646417-93646418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs115043660	chr9:93646425-93646426	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148870003	chr9:93646432-93646433	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs78890665	chr9:93646435-93646436	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62554369	chr9:93646437-93646438	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200136685	chr9:93646440-93646441	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201292948	chr9:93646442-93646443	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs377473435	chr9:93646443-93646444	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs28869586	chr9:93646444-93646445	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62554370	chr9:93646446-93646447	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561556785	chr9:93646447-93646448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs67180121	chr9:93646448-93646449	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547171228	chr9:93646456-93646457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs193140625	chr9:93646458-93646459	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs28855494	chr9:93646468-93646469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs144152549	chr9:93646473-93646474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs28799920	chr9:93646474-93646475	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs141291161	chr9:93646497-93646498	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138516770	chr9:93646499-93646500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs202061349	chr9:93646515-93646516	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374921796	chr9:93646527-93646528	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs28857508	chr9:93646528-93646529	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201875020	chr9:93646532-93646533	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368272635	chr9:93646533-93646534	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75101583	chr9:93646534-93646535	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs552616018	chr9:93646537-93646538	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62554373	chr9:93646538-93646539	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569189314	chr9:93646541-93646542	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201077303	chr9:93646545-93646546	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200005677	chr9:93646562-93646563	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374483231	chr9:93646565-93646566	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201714780	chr9:93646566-93646567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78295166	chr9:93646576-93646577	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200569779	chr9:93646579-93646580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62554374	chr9:93646591-93646592	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538227113	chr9:93646600-93646601	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554488383	chr9:93646604-93646605	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs71495399	chr9:93646605-93646606	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs199616960	chr9:93646610-93646611	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143653073	chr9:93646626-93646627	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146897782	chr9:93646635-93646636	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs28846524	chr9:93646650-93646651	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142112478	chr9:93646676-93646677	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567966302	chr9:93646678-93646679	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93626000-93647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:93634000-93646200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:93634000-93646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:93634000-93666200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:93634400-93646600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr9:93635600-93646200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr9:93636400-93650600	Weak transcription	Liver	Liver
8	chr9:93638800-93646800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr9:93639400-93646200	Strong transcription	Fetal Stomach	stomach
10	chr9:93639400-93646400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:93639400-93647000	Weak transcription	HMEC	breast
12	chr9:93640000-93646400	Strong transcription	Primary hematopoietic stem cells	blood
13	chr9:93641200-93657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:93641400-93646200	Weak transcription	NHEK	skin
15	chr9:93641800-93646200	Weak transcription	K562	blood
16	chr9:93642400-93646400	Strong transcription	Fetal Intestine Small	intestine
17	chr9:93642600-93646200	Weak transcription	Fetal Kidney	kidney
18	chr9:93643000-93646800	Weak transcription	Right Ventricle	heart
19	chr9:93643000-93666600	Weak transcription	Stomach Mucosa	stomach
20	chr9:93643200-93656800	Weak transcription	Small Intestine	intestine
21	chr9:93643200-93663400	Weak transcription	Adipose Nuclei	Adipose
22	chr9:93643400-93646800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:93643400-93651800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:93643400-93652800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:93643600-93665400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:93644600-93646200	Strong transcription	Esophagus	oesophagus
27	chr9:93644600-93646200	Strong transcription	Spleen	Spleen
28	chr9:93644600-93646600	Strong transcription	Primary B cells from cord blood	blood
29	chr9:93644800-93646400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr9:93644800-93646400	Strong transcription	Pancreas	Pancrea
31	chr9:93645200-93646200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:93645200-93646400	Strong transcription	Fetal Intestine Large	intestine
33	chr9:93645200-93646400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr9:93645400-93646200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:93645400-93646200	Strong transcription	Lung	lung
36	chr9:93645400-93646400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr9:93645600-93646200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:93645600-93646400	Strong transcription	Colonic Mucosa	Colon
39	chr9:93645600-93646400	ZNF genes & repeats	Thymus	Thymus
40	chr9:93645800-93646200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:93645800-93646200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr9:93645800-93646400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr9:93645800-93646400	ZNF genes & repeats	Fetal Thymus	thymus
44	chr9:93646000-93646400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:93646000-93646400	ZNF genes & repeats	Gastric	stomach
46	chr9:93646000-93646600	ZNF genes & repeats	GM12878-XiMat	blood
47	chr9:93646200-93646800	Strong transcription	Fetal Kidney	kidney
48	chr9:93646200-93646800	ZNF genes & repeats	NHEK	skin
49	chr9:93646200-93648200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:93646200-93649800	Weak transcription	Lung	lung

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