Variant report

Variant	esv3482561
Chromosome Location	chr9:100376509-100379214
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100378318..100380462-chr9:100395388..100397113,2	K562	blood:
2	chr9:100232099..100232653-chr9:100377516..100378470,2	MCF-7	breast:
3	chr9:100377595..100379440-chr9:100388100..100390147,2	K562	blood:
4	chr9:100232102..100233020-chr9:100377034..100377995,3	MCF-7	breast:
5	chr9:100371781..100375300-chr9:100375938..100379259,4	K562	blood:
6	chr9:100377919..100379594-chr9:100390276..100392003,2	MCF-7	breast:
7	chr9:100230552..100231567-chr9:100377368..100378459,12	K562	blood:
8	chr9:100173580..100174247-chr9:100375862..100376566,2	MCF-7	breast:
9	chr9:99618843..99619533-chr9:100377818..100378341,2	MCF-7	breast:
10	chr9:100230688..100231511-chr9:100377562..100378447,3	MCF-7	breast:
11	chr9:100174079..100174663-chr9:100377385..100378416,3	MCF-7	breast:
12	chr9:100173721..100174288-chr9:100377910..100378421,2	K562	blood:
13	chr9:100228869..100231293-chr9:100376562..100379055,3	MCF-7	breast:
14	chr9:100230612..100231556-chr9:100377483..100378918,12	MCF-7	breast:
15	chr9:100148879..100149573-chr9:100377949..100378512,2	MCF-7	breast:
16	chr9:100231600..100232534-chr9:100377962..100378524,2	K562	blood:
17	chr9:100377457..100379313-chr9:100395324..100397132,2	MCF-7	breast:
18	chr9:100148966..100149836-chr9:100377517..100378454,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136925	chromatin interactions
ENSG00000196116	chromatin interactions
ENSG00000136937	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10983030	chr9:100376547-100376548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567154071	chr9:100376554-100376555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552623735	chr9:100376586-100376587	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200920800	chr9:100376649-100376650	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375989461	chr9:100376655-100376656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577285025	chr9:100376674-100376675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570771916	chr9:100376684-100376685	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534990739	chr9:100376721-100376722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553308126	chr9:100376737-100376738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs386736628	chr9:100376855-100376856	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12375516	chr9:100376856-100376857	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200232847	chr9:100376861-100376862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386736629	chr9:100376862-100376863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs67387566	chr9:100376863-100376864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112902591	chr9:100376866-100376867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369889299	chr9:100376924-100376925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147924630	chr9:100376935-100376936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564178689	chr9:100376936-100376937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572751345	chr9:100376945-100376946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540183151	chr9:100376973-100376974	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113396344	chr9:100376984-100376985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530375607	chr9:100377002-100377003	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73554633	chr9:100377015-100377016	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538921328	chr9:100377048-100377049	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557234884	chr9:100377049-100377050	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112992479	chr9:100377082-100377083	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145440192	chr9:100377095-100377096	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190865335	chr9:100377106-100377107	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10983035	chr9:100377130-100377131	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs16922598	chr9:100377140-100377141	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547057235	chr9:100377145-100377146	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568442124	chr9:100377180-100377181	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557257284	chr9:100377218-100377219	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369109021	chr9:100377222-100377223	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539572272	chr9:100377244-100377245	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536749360	chr9:100377255-100377256	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75919710	chr9:100377283-100377284	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572931273	chr9:100377450-100377451	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539934172	chr9:100377477-100377478	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs180861927	chr9:100377553-100377554	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs185687138	chr9:100377572-100377573	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs190400855	chr9:100377581-100377582	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs563981567	chr9:100377615-100377616	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs182978230	chr9:100377690-100377691	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs60596698	chr9:100377713-100377714	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564513036	chr9:100377765-100377766	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs187612451	chr9:100377918-100377919	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs547099581	chr9:100377930-100377931	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs76036212	chr9:100377943-100377944	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs376961040	chr9:100377986-100377987	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100348800-100384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:100361000-100381200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:100361800-100383400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:100361800-100389000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:100361800-100394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:100362200-100379000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:100363000-100394600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:100365200-100382200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:100365800-100389400	Weak transcription	Stomach Mucosa	stomach
10	chr9:100367400-100386200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr9:100367400-100387000	Weak transcription	HMEC	breast
12	chr9:100367600-100377000	Weak transcription	NHEK	skin
13	chr9:100367600-100384000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:100367600-100390400	Weak transcription	Small Intestine	intestine
15	chr9:100367800-100383800	Weak transcription	A549	lung
16	chr9:100367800-100384000	Weak transcription	Aorta	Aorta
17	chr9:100367800-100384400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:100368200-100379400	Weak transcription	Gastric	stomach
19	chr9:100368200-100380400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr9:100368200-100386200	Weak transcription	Esophagus	oesophagus
21	chr9:100368200-100394000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:100368200-100394200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:100368400-100379800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:100368400-100379800	Weak transcription	Right Ventricle	heart
25	chr9:100368400-100384000	Weak transcription	Pancreas	Pancrea
26	chr9:100368400-100387800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:100368400-100394000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:100368600-100379800	Weak transcription	Hela-S3	cervix
29	chr9:100369000-100378600	Weak transcription	NHLF	lung
30	chr9:100369000-100386400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr9:100369000-100388200	Strong transcription	Fetal Muscle Leg	muscle
32	chr9:100369200-100377400	Weak transcription	Fetal Heart	heart
33	chr9:100369600-100382600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr9:100370800-100379400	Strong transcription	Fetal Thymus	thymus
35	chr9:100371000-100382400	Weak transcription	Fetal Intestine Small	intestine
36	chr9:100371200-100382800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:100371800-100376600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr9:100372000-100377400	Strong transcription	Liver	Liver
39	chr9:100372000-100380400	Strong transcription	Placenta	Placenta
40	chr9:100372200-100376600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:100372200-100377600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr9:100372200-100388200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr9:100372400-100376600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr9:100372400-100377200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:100372800-100377400	Weak transcription	Brain Angular Gyrus	brain
46	chr9:100372800-100383200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:100372800-100387600	Weak transcription	Psoas Muscle	Psoas
48	chr9:100372800-100394000	Weak transcription	Colonic Mucosa	Colon
49	chr9:100373000-100383800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr9:100373000-100389400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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