Variant report

Variant	esv3440136
Chromosome Location	chr9:96375831-96378729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96336833..96339118-chr9:96375167..96379434,3	MCF-7	breast:
2	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
3	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:
4	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs201420565	chr9:96375843-96375844	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191646537	chr9:96375846-96375847	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs58925215	chr9:96375946-96375947	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372618826	chr9:96375991-96375992	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145499089	chr9:96376000-96376001	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542093682	chr9:96376037-96376038	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557320493	chr9:96376089-96376090	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2989754	chr9:96376157-96376158	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs78361903	chr9:96376174-96376175	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539100522	chr9:96376183-96376184	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79730252	chr9:96376204-96376205	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557733432	chr9:96376236-96376237	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2989755	chr9:96376253-96376254	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs372245726	chr9:96376267-96376268	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539950491	chr9:96376277-96376278	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181349409	chr9:96376342-96376343	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369390717	chr9:96376369-96376370	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2250344	chr9:96376398-96376399	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs563074687	chr9:96376400-96376401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375055667	chr9:96376411-96376412	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369335852	chr9:96376433-96376434	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114708009	chr9:96376445-96376446	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186361751	chr9:96376462-96376463	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144517119	chr9:96376470-96376471	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371871979	chr9:96376486-96376487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs72745485	chr9:96376489-96376490	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114038058	chr9:96376511-96376512	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191116828	chr9:96376572-96376573	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375973909	chr9:96376623-96376624	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527649876	chr9:96376666-96376667	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564877097	chr9:96376676-96376677	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530554727	chr9:96376681-96376682	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549520987	chr9:96376694-96376695	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72745487	chr9:96376721-96376722	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116273494	chr9:96376743-96376744	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142075901	chr9:96376746-96376747	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367545887	chr9:96376747-96376748	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148301392	chr9:96376755-96376756	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532189852	chr9:96376767-96376768	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75881059	chr9:96376770-96376771	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77858114	chr9:96376775-96376776	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150434850	chr9:96376801-96376802	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114383509	chr9:96376885-96376886	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2994368	chr9:96376900-96376901	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551345679	chr9:96376930-96376931	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182950947	chr9:96376950-96376951	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375865228	chr9:96376951-96376952	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200942044	chr9:96376952-96376953	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541822880	chr9:96376960-96376961	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555073820	chr9:96377005-96377006	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	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:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96361400-96380400	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	chr9:96372800-96376000	Weak transcription	Right Ventricle	heart
10	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:96373000-96377200	Enhancers	Psoas Muscle	Psoas
12	chr9:96373000-96379400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:96373200-96376000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr9:96373400-96377000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr9:96373400-96379400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:96373400-96379400	Weak transcription	Brain Anterior Caudate	brain
17	chr9:96373400-96379400	Weak transcription	Fetal Intestine Large	intestine
18	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
20	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
21	chr9:96373600-96379400	Weak transcription	Brain Germinal Matrix	brain
22	chr9:96373800-96379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:96374200-96376400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:96374200-96376600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr9:96374400-96376000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:96374400-96376400	Enhancers	GM12878-XiMat	blood
27	chr9:96374400-96376600	Enhancers	Colon Smooth Muscle	Colon
28	chr9:96374400-96376800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:96374400-96377000	Enhancers	Primary B cells from peripheral blood	blood
30	chr9:96374600-96376000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr9:96374600-96376600	Enhancers	Left Ventricle	heart
32	chr9:96374600-96377000	Weak transcription	Fetal Kidney	kidney
33	chr9:96374600-96378000	Enhancers	Spleen	Spleen
34	chr9:96374600-96378200	Enhancers	Gastric	stomach
35	chr9:96374600-96399800	Weak transcription	K562	blood
36	chr9:96374800-96376400	Weak transcription	Primary T cells from cord blood	blood
37	chr9:96374800-96376800	Enhancers	Stomach Smooth Muscle	stomach
38	chr9:96374800-96379400	Weak transcription	Small Intestine	intestine
39	chr9:96374800-96385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr9:96375000-96376200	Enhancers	Lung	lung
41	chr9:96375000-96376400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:96375000-96376600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:96375000-96381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:96375000-96382400	Weak transcription	Liver	Liver
45	chr9:96375000-96382600	Weak transcription	Hela-S3	cervix
46	chr9:96375200-96376000	Strong transcription	Fetal Intestine Small	intestine
47	chr9:96375200-96376400	Enhancers	Right Atrium	heart
48	chr9:96375200-96376600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr9:96375200-96379200	Weak transcription	Brain Hippocampus Middle	brain
50	chr9:96375200-96379400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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