Variant report

Variant	esv3372585
Chromosome Location	chr9:95968731-95972929
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95945262..95950257-chr9:95966611..95970015,4	K562	blood:
2	chr9:95960782..95962974-chr9:95969485..95971200,2	MCF-7	breast:
3	chr9:95964446..95966311-chr9:95967245..95969006,2	K562	blood:
4	chr9:95961070..95962823-chr9:95969517..95972182,2	K562	blood:
5	chr9:95969895..95975601-chr9:95984404..95988658,5	MCF-7	breast:
6	chr9:95947943..95949965-chr9:95968515..95970941,2	K562	blood:
7	chr9:95965438..95972862-chr9:95973191..95979158,8	MCF-7	breast:
8	chr9:95963232..95968490-chr9:95968804..95973983,9	MCF-7	breast:
9	chr9:95969627..95972419-chr9:95984512..95987236,2	MCF-7	breast:
10	chr9:95967693..95970239-chr9:96069925..96071737,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165238	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548200481	chr9:95968750-95968751	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569640311	chr9:95968755-95968756	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114766538	chr9:95968768-95968769	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141998864	chr9:95968775-95968776	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570672373	chr9:95968776-95968777	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534575005	chr9:95968802-95968803	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534904215	chr9:95968872-95968873	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553225309	chr9:95968904-95968905	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530761198	chr9:95968915-95968916	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112068611	chr9:95968971-95968972	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188772741	chr9:95968990-95968991	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557368324	chr9:95969031-95969032	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575649566	chr9:95969039-95969040	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75932720	chr9:95969040-95969041	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564584508	chr9:95969079-95969080	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577081640	chr9:95969113-95969114	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs193184869	chr9:95969121-95969122	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559668348	chr9:95969230-95969231	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115723831	chr9:95969260-95969261	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541456689	chr9:95969288-95969289	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563248291	chr9:95969352-95969353	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs80243459	chr9:95969360-95969361	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139002740	chr9:95969561-95969562	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147472635	chr9:95969598-95969599	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375691565	chr9:95969601-95969602	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184481862	chr9:95969628-95969629	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546826992	chr9:95969630-95969631	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139570295	chr9:95969715-95969716	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116322802	chr9:95969723-95969724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188743761	chr9:95969749-95969750	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569195411	chr9:95969753-95969754	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539860823	chr9:95969801-95969802	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149309627	chr9:95969836-95969837	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571571365	chr9:95969860-95969861	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573407307	chr9:95969890-95969891	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144543678	chr9:95969908-95969909	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553178071	chr9:95969965-95969966	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574549390	chr9:95969976-95969977	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115670553	chr9:95969989-95969990	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539087341	chr9:95970032-95970033	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs74512839	chr9:95970033-95970034	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563451832	chr9:95970034-95970035	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530397681	chr9:95970049-95970050	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146429743	chr9:95970081-95970082	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs58154222	chr9:95970133-95970134	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139796144	chr9:95970143-95970144	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536498149	chr9:95970184-95970185	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114750629	chr9:95970185-95970186	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546790217	chr9:95970211-95970212	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371898822	chr9:95970304-95970305	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95955800-95985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:95957000-95973400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:95958200-95972800	Enhancers	Left Ventricle	heart
4	chr9:95958200-95975600	Enhancers	Pancreas	Pancrea
5	chr9:95959200-95970200	Weak transcription	Lung	lung
6	chr9:95960400-95971400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:95960600-95975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:95962200-95970600	Enhancers	Fetal Brain Male	brain
9	chr9:95962200-95973400	Enhancers	Right Ventricle	heart
10	chr9:95962400-95969600	Enhancers	Brain Anterior Caudate	brain
11	chr9:95962600-95970200	Enhancers	Brain Angular Gyrus	brain
12	chr9:95962800-95972600	Enhancers	Fetal Muscle Leg	muscle
13	chr9:95962800-95975600	Enhancers	Fetal Intestine Large	intestine
14	chr9:95963200-95970800	Enhancers	Fetal Thymus	thymus
15	chr9:95963200-95971200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:95963400-95972800	Enhancers	Psoas Muscle	Psoas
17	chr9:95963800-95972400	Enhancers	Right Atrium	heart
18	chr9:95964000-95971000	Enhancers	Brain Hippocampus Middle	brain
19	chr9:95964200-95970200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr9:95964600-95969400	Weak transcription	Fetal Kidney	kidney
21	chr9:95964600-95970200	Enhancers	Duodenum Mucosa	Duodenum
22	chr9:95965000-95969600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr9:95965600-95969000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:95965800-95971200	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:95965800-95973200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:95966200-95973000	Enhancers	Colonic Mucosa	Colon
27	chr9:95966400-95970200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr9:95966800-95968800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr9:95966800-95971000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:95966800-95971000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr9:95966800-95971600	Enhancers	Spleen	Spleen
32	chr9:95967000-95970400	Enhancers	Adipose Nuclei	Adipose
33	chr9:95967200-95968800	Enhancers	Fetal Lung	lung
34	chr9:95967200-95968800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr9:95967200-95969000	Enhancers	Brain Substantia Nigra	brain
36	chr9:95967200-95971000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:95967200-95971200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:95967400-95969200	Enhancers	Stomach Mucosa	stomach
39	chr9:95967400-95969600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:95967400-95969600	Enhancers	HSMMtube	muscle
41	chr9:95967400-95969800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:95967400-95970800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr9:95967600-95970200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr9:95967600-95973200	Genic enhancers	Fetal Intestine Small	intestine
45	chr9:95968000-95968800	Flanking Active TSS	Fetal Heart	heart
46	chr9:95968000-95970600	Weak transcription	Small Intestine	intestine
47	chr9:95968200-95969000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:95968200-95969200	Enhancers	Fetal Brain Female	brain
49	chr9:95968200-95969400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:95968200-95969400	Weak transcription	Osteobl	bone

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