Variant report

Variant	esv3353349
Chromosome Location	chr9:103014446-103038360
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	chr9:103006938..103009209-chr9:103023214..103024731,2	K562	blood:
2	chr9:103037852..103042243-chr9:103042555..103047658,4	K562	blood:
3	chr9:103023176..103026390-chr9:103028686..103031625,3	K562	blood:
4	chr9:103037474..103040189-chr9:103187974..103190898,2	K562	blood:
5	chr9:103021618..103025273-chr9:103028686..103032973,4	K562	blood:
6	chr9:103021618..103025273-chr9:103028686..103032973,4	K562	blood:
7	chr9:103034640..103037269-chr9:103039360..103041415,3	K562	blood:
8	chr9:103029169..103031769-chr9:103032600..103036363,3	K562	blood:
9	chr9:103029169..103031769-chr9:103032600..103036363,3	K562	blood:
10	chr9:103023176..103026390-chr9:103028686..103031625,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066697	chromatin interactions

Extended variants
information (count: 835 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:835 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369133866	chr9:103014471-103014472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555064910	chr9:103014497-103014498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536204078	chr9:103014514-103014515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377068989	chr9:103014516-103014517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370344619	chr9:103014529-103014530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111876971	chr9:103014536-103014537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201219699	chr9:103014539-103014540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369363271	chr9:103014543-103014544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373264811	chr9:103014552-103014553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200546215	chr9:103014597-103014598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140255233	chr9:103014608-103014609	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538746047	chr9:103014666-103014667	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs207470405	chr9:103014689-103014690	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368746630	chr9:103014705-103014706	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374662619	chr9:103014706-103014707	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377720510	chr9:103014747-103014748	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375376581	chr9:103014748-103014749	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371389112	chr9:103014762-103014763	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373472252	chr9:103014767-103014768	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187066093	chr9:103014789-103014790	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34831686	chr9:103014891-103014892	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541838178	chr9:103014943-103014944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1338121	chr9:103015018-103015019	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs542600445	chr9:103015049-103015050	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562465694	chr9:103015077-103015078	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576129243	chr9:103015112-103015113	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371841072	chr9:103015149-103015150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373150205	chr9:103015166-103015167	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2245216	chr9:103015184-103015185	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs527845207	chr9:103015212-103015213	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145243134	chr9:103015218-103015219	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77465715	chr9:103015238-103015239	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561196587	chr9:103015243-103015244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190168118	chr9:103015282-103015283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377291545	chr9:103015288-103015289	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370549699	chr9:103015290-103015291	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114912725	chr9:103015328-103015329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373961608	chr9:103015337-103015338	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398124271	chr9:103015413-103015414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375753623	chr9:103015419-103015420	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183160792	chr9:103015479-103015480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544949305	chr9:103015483-103015484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145515480	chr9:103015491-103015492	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552363354	chr9:103015523-103015524	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571437222	chr9:103015549-103015550	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533709273	chr9:103015553-103015554	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530385941	chr9:103015604-103015605	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554111591	chr9:103015648-103015649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548589900	chr9:103015671-103015672	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58891678	chr9:103015698-103015699	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102972400-103017200	Weak transcription	Spleen	Spleen
2	chr9:102972400-103035200	Weak transcription	Esophagus	oesophagus
3	chr9:102972600-103027200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:102972600-103046600	Weak transcription	Psoas Muscle	Psoas
5	chr9:102973000-103014600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:102973000-103027400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:102973000-103053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:102974000-103014600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:102974000-103047600	Weak transcription	Fetal Brain Male	brain
10	chr9:102974200-103014600	Weak transcription	Brain Angular Gyrus	brain
11	chr9:102975800-103045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:102976800-103047800	Weak transcription	Fetal Heart	heart
13	chr9:102977000-103014600	Weak transcription	NH-A	brain
14	chr9:102979400-103054600	Weak transcription	NHEK	skin
15	chr9:102984000-103014600	Weak transcription	HSMMtube	muscle
16	chr9:102986600-103018800	Weak transcription	Small Intestine	intestine
17	chr9:102987400-103014600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr9:102987400-103045800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:102987400-103054600	Weak transcription	Gastric	stomach
20	chr9:102989400-103014600	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:102989400-103047200	Weak transcription	GM12878-XiMat	blood
22	chr9:102989600-103027600	Weak transcription	A549	lung
23	chr9:102989800-103014600	Weak transcription	Placenta	Placenta
24	chr9:102990200-103014600	Weak transcription	Brain Anterior Caudate	brain
25	chr9:102991000-103016600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:102992400-103014600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:102992400-103027200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:102992600-103039000	Weak transcription	NHDF-Ad	bronchial
29	chr9:102994800-103046600	Weak transcription	Pancreas	Pancrea
30	chr9:102997800-103054400	Weak transcription	Colonic Mucosa	Colon
31	chr9:102999600-103027400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:102999800-103014600	Weak transcription	Thymus	Thymus
33	chr9:102999800-103020600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:102999800-103028000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr9:102999800-103035200	Weak transcription	Right Ventricle	heart
36	chr9:103000000-103014600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:103000000-103014600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr9:103000000-103021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:103000000-103021000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr9:103000000-103021000	Weak transcription	Fetal Thymus	thymus
41	chr9:103000000-103021000	Weak transcription	Lung	lung
42	chr9:103000000-103021600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:103000000-103034800	Weak transcription	Aorta	Aorta
44	chr9:103000200-103027400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr9:103000400-103020600	Weak transcription	Fetal Stomach	stomach
46	chr9:103002600-103027200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:103003000-103015200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:103003400-103046800	Weak transcription	HMEC	breast
49	chr9:103004400-103016600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:103006000-103027400	Weak transcription	Rectal Mucosa Donor 29	rectum

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