Variant report

Variant	esv3344547
Chromosome Location	chr9:96377240-96377737
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	chr9:96336833..96339118-chr9:96375167..96379434,3	MCF-7	breast:
2	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 73 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146250638	chr9:96377257-96377258	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117655701	chr9:96377273-96377274	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552399358	chr9:96377281-96377282	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534697451	chr9:96377323-96377324	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374590751	chr9:96377331-96377332	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531837218	chr9:96377332-96377333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376769795	chr9:96377335-96377336	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549960856	chr9:96377338-96377339	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371216324	chr9:96377353-96377354	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369598812	chr9:96377354-96377355	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562714468	chr9:96377393-96377394	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373209571	chr9:96377404-96377405	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117162474	chr9:96377405-96377406	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551676184	chr9:96377414-96377415	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373737777	chr9:96377420-96377421	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566410578	chr9:96377433-96377434	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200659756	chr9:96377436-96377437	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200144908	chr9:96377439-96377440	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200791766	chr9:96377446-96377447	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs202187960	chr9:96377450-96377451	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371420260	chr9:96377453-96377454	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373692954	chr9:96377456-96377457	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200433331	chr9:96377459-96377460	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535058990	chr9:96377463-96377464	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201511386	chr9:96377468-96377469	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200163310	chr9:96377469-96377470	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201742649	chr9:96377470-96377471	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374784863	chr9:96377476-96377477	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200517495	chr9:96377481-96377482	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543751673	chr9:96377486-96377487	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10992802	chr9:96377492-96377493	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373291156	chr9:96377500-96377501	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10992803	chr9:96377526-96377527	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541633872	chr9:96377566-96377567	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186768809	chr9:96377583-96377584	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555949386	chr9:96377586-96377587	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs578138201	chr9:96377591-96377592	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538834744	chr9:96377593-96377594	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370033269	chr9:96377599-96377600	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554483035	chr9:96377604-96377605	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13291161	chr9:96377644-96377645	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572766433	chr9:96377648-96377649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150911430	chr9:96377669-96377670	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543090601	chr9:96377681-96377682	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191190057	chr9:96377682-96377683	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552006742	chr9:96377683-96377684	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370853422	chr9:96377698-96377699	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116914418	chr9:96377715-96377716	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565206926	chr9:96377722-96377723	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs62573991	chr9:96377735-96377736	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96361400-96380400	Weak transcription	Fetal Brain Male	brain
3	chr9:96361600-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:96364200-96380600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:96366400-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
9	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:96373000-96379400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr9:96373400-96379400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:96373400-96379400	Weak transcription	Brain Anterior Caudate	brain
13	chr9:96373400-96379400	Weak transcription	Fetal Intestine Large	intestine
14	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
16	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
17	chr9:96373600-96379400	Weak transcription	Brain Germinal Matrix	brain
18	chr9:96373800-96379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:96374600-96378000	Enhancers	Spleen	Spleen
20	chr9:96374600-96378200	Enhancers	Gastric	stomach
21	chr9:96374600-96399800	Weak transcription	K562	blood
22	chr9:96374800-96379400	Weak transcription	Small Intestine	intestine
23	chr9:96374800-96385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr9:96375000-96381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:96375000-96382400	Weak transcription	Liver	Liver
26	chr9:96375000-96382600	Weak transcription	Hela-S3	cervix
27	chr9:96375200-96379200	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:96375200-96379400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr9:96375200-96379600	Weak transcription	Thymus	Thymus
30	chr9:96375200-96383200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:96375200-96383200	Weak transcription	Stomach Mucosa	stomach
32	chr9:96375200-96383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:96375200-96391800	Weak transcription	Colonic Mucosa	Colon
34	chr9:96375400-96379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:96375400-96379400	Weak transcription	Adipose Nuclei	Adipose
36	chr9:96375400-96379400	Weak transcription	Brain Substantia Nigra	brain
37	chr9:96375400-96380400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:96375400-96385800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr9:96375600-96379400	Weak transcription	Aorta	Aorta
40	chr9:96375600-96379400	Weak transcription	Placenta	Placenta
41	chr9:96375600-96382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:96375600-96383000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr9:96375600-96383200	Weak transcription	Brain Angular Gyrus	brain
44	chr9:96375600-96383600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr9:96375600-96383800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr9:96375600-96390000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr9:96375800-96379400	Weak transcription	Ovary	ovary
48	chr9:96375800-96383400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:96375800-96386200	Weak transcription	Dnd41	blood
50	chr9:96375800-96390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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