Variant report

Variant	esv3358961
Chromosome Location	chr9:96383731-96388429
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
2	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:
3	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
4	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
5	chr9:96338100..96342684-chr9:96381746..96385734,6	MCF-7	breast:
6	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
7	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
8	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs34627691	chr9:96383777-96383778	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs72745495	chr9:96383781-96383782	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75067094	chr9:96383791-96383792	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141383701	chr9:96383801-96383802	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369241598	chr9:96383826-96383827	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150365375	chr9:96383838-96383839	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76557088	chr9:96383839-96383840	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531313802	chr9:96383900-96383901	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544515866	chr9:96383926-96383927	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73522240	chr9:96383951-96383952	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571889749	chr9:96383991-96383992	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2001368	chr9:96384022-96384023	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548142891	chr9:96384023-96384024	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566366819	chr9:96384033-96384034	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147679135	chr9:96384044-96384045	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553360208	chr9:96384266-96384267	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554669659	chr9:96384269-96384270	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73522243	chr9:96384271-96384272	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375339658	chr9:96384286-96384287	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77768484	chr9:96384293-96384294	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183857219	chr9:96384315-96384316	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs137909420	chr9:96384334-96384335	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566762831	chr9:96384351-96384352	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527635234	chr9:96384415-96384416	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544790531	chr9:96384418-96384419	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560060315	chr9:96384423-96384424	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375694412	chr9:96384433-96384434	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372897319	chr9:96384458-96384459	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs80327122	chr9:96384475-96384476	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79530803	chr9:96384478-96384479	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1806524	chr9:96384524-96384525	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188344459	chr9:96384528-96384529	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs55846473	chr9:96384551-96384552	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549637213	chr9:96384601-96384602	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564956643	chr9:96384709-96384710	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79987346	chr9:96384749-96384750	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192932250	chr9:96384767-96384768	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556262813	chr9:96384811-96384812	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559790080	chr9:96384819-96384820	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111258002	chr9:96384820-96384821	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373485617	chr9:96384852-96384853	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138757449	chr9:96384856-96384857	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374140927	chr9:96384870-96384871	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149264815	chr9:96384877-96384878	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1123475	chr9:96384951-96384952	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569973999	chr9:96384958-96384959	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537433154	chr9:96384959-96384960	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183816121	chr9:96384985-96384986	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7044896	chr9:96384994-96384995	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75143474	chr9:96385011-96385012	Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	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
Mental retardation	21693067	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
4	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
7	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
8	chr9:96374600-96399800	Weak transcription	K562	blood
9	chr9:96374800-96385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr9:96375200-96383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr9:96375200-96391800	Weak transcription	Colonic Mucosa	Colon
12	chr9:96375400-96385800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr9:96375600-96383800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr9:96375600-96390000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:96375800-96386200	Weak transcription	Dnd41	blood
16	chr9:96375800-96390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:96376200-96393000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:96376400-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:96376600-96390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:96377200-96389200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr9:96377800-96386600	Weak transcription	Fetal Kidney	kidney
22	chr9:96379400-96385800	Enhancers	Right Atrium	heart
23	chr9:96379600-96390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:96379600-96390000	Weak transcription	Aorta	Aorta
25	chr9:96379800-96385000	Strong transcription	Fetal Stomach	stomach
26	chr9:96379800-96385600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:96379800-96391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:96380000-96384000	Strong transcription	Primary T cells from cord blood	blood
29	chr9:96380000-96386600	Weak transcription	Fetal Lung	lung
30	chr9:96380200-96411800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:96380400-96386800	Enhancers	Right Ventricle	heart
32	chr9:96380600-96385200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:96380800-96390000	Weak transcription	Thymus	Thymus
34	chr9:96380800-96399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:96381000-96384000	Enhancers	Psoas Muscle	Psoas
36	chr9:96381000-96384800	Enhancers	Gastric	stomach
37	chr9:96381000-96385200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr9:96381200-96384000	Enhancers	Ovary	ovary
39	chr9:96381200-96384200	Weak transcription	Fetal Intestine Large	intestine
40	chr9:96381200-96385800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr9:96381400-96385400	Enhancers	Pancreas	Pancrea
42	chr9:96381400-96385800	Enhancers	Left Ventricle	heart
43	chr9:96381800-96384200	Enhancers	Fetal Muscle Leg	muscle
44	chr9:96382000-96384200	Enhancers	Stomach Smooth Muscle	stomach
45	chr9:96382000-96385400	Enhancers	Lung	lung
46	chr9:96382200-96384000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:96382200-96384600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr9:96382400-96384200	Enhancers	Liver	Liver
49	chr9:96382600-96384000	Weak transcription	Fetal Intestine Small	intestine
50	chr9:96382800-96384200	Weak transcription	Brain Cingulate Gyrus	brain

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