Variant report

Variant	nsv1055035
Chromosome Location	chr9:96372269-96402747
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96347655..96349520-chr9:96399670..96402056,2	K562	blood:
2	chr9:96394493..96396202-chr9:96397169..96399120,2	MCF-7	breast:
3	chr9:96391831..96394155-chr9:96413684..96415869,2	K562	blood:
4	chr9:96338187..96341203-chr9:96391174..96393981,3	MCF-7	breast:
5	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
6	chr20:55837305..55839406-chr9:96402337..96403887,2	MCF-7	breast:
7	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
8	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
9	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
10	chr9:96393648..96395801-chr9:96402500..96404793,2	MCF-7	breast:
11	chr9:96394612..96397512-chr9:96407900..96409512,2	MCF-7	breast:
12	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
13	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
14	chr9:96391172..96393560-chr9:96396943..96399376,2	K562	blood:
15	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:
16	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
17	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
18	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:
19	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
20	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:
21	chr9:96336833..96339118-chr9:96375167..96379434,3	MCF-7	breast:
22	chr9:96365988..96367962-chr9:96372230..96374229,2	MCF-7	breast:
23	chr9:96391172..96393560-chr9:96396943..96399376,2	K562	blood:
24	chr9:96338802..96340670-chr9:96371503..96373772,3	MCF-7	breast:
25	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
26	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
27	chr9:96338100..96342684-chr9:96381746..96385734,6	MCF-7	breast:
28	chr9:96393648..96395801-chr9:96402500..96404793,2	MCF-7	breast:
29	chr9:96338137..96340211-chr9:96373633..96375791,2	K562	blood:
30	chr9:96394493..96396202-chr9:96397169..96399120,2	MCF-7	breast:
31	chr9:96397302..96399892-chr9:96415445..96418992,3	MCF-7	breast:
32	chr9:96346772..96349327-chr9:96380904..96383527,2	MCF-7	breast:
33	chr9:96337969..96340007-chr9:96379464..96381194,2	MCF-7	breast:
34	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
35	chr9:96382332..96382997-chr9:96442806..96443414,2	MCF-7	breast:
36	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
37	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
38	chr9:96340603..96342904-chr9:96370807..96373306,2	K562	blood:
39	chr9:96328888..96330785-chr9:96400006..96401542,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 1403 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1403 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376585897	chr9:96372269-96372270	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533970542	chr9:96372278-96372279	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565619665	chr9:96372284-96372285	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536884115	chr9:96372285-96372286	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555194026	chr9:96372304-96372305	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576854732	chr9:96372321-96372322	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4568663	chr9:96372325-96372326	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373816761	chr9:96372347-96372348	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577184827	chr9:96372348-96372349	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75742615	chr9:96372354-96372355	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371940945	chr9:96372362-96372363	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375183731	chr9:96372363-96372364	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369497277	chr9:96372364-96372365	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113805186	chr9:96372397-96372398	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574827049	chr9:96372430-96372431	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542460992	chr9:96372458-96372459	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs928368	chr9:96372484-96372485	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs574888440	chr9:96372553-96372554	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115112936	chr9:96372607-96372608	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150574798	chr9:96372620-96372621	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565003131	chr9:96372625-96372626	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375899642	chr9:96372658-96372659	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192610958	chr9:96372679-96372680	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139564724	chr9:96372751-96372752	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183946185	chr9:96372776-96372777	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188026834	chr9:96372792-96372793	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149747571	chr9:96372795-96372796	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528635989	chr9:96372798-96372799	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542406748	chr9:96372876-96372877	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560879224	chr9:96372900-96372901	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192442212	chr9:96372901-96372902	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146258687	chr9:96372919-96372920	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571039517	chr9:96372927-96372928	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376243833	chr9:96372939-96372940	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200091340	chr9:96372957-96372958	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535058229	chr9:96372967-96372968	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560664404	chr9:96373011-96373012	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538878623	chr9:96373041-96373042	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370135051	chr9:96373046-96373047	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553088980	chr9:96373061-96373062	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574441830	chr9:96373078-96373079	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541928822	chr9:96373096-96373097	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7854758	chr9:96373177-96373178	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575852169	chr9:96373277-96373278	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184704473	chr9:96373310-96373311	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72745477	chr9:96373315-96373316	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143967666	chr9:96373378-96373379	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532296844	chr9:96373407-96373408	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541068253	chr9:96373424-96373425	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189029273	chr9:96373425-96373426	Weak transcription ZNF genes & repeats 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:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

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	chr9:96363200-96374200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:96363200-96374600	Weak transcription	Gastric	stomach
6	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:96363800-96374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:96363800-96374400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:96364200-96380600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:96366000-96374600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:96366200-96375000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:96366400-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:96366600-96373200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
16	chr9:96372000-96372800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr9:96372200-96373000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr9:96372200-96373800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr9:96372600-96374600	Weak transcription	Dnd41	blood
20	chr9:96372800-96373200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr9:96372800-96373400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr9:96372800-96373400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:96372800-96373400	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr9:96372800-96374400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:96372800-96376000	Weak transcription	Right Ventricle	heart
26	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:96373000-96373400	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr9:96373000-96373400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:96373000-96373400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:96373000-96373400	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr9:96373000-96377200	Enhancers	Psoas Muscle	Psoas
32	chr9:96373000-96379400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr9:96373200-96373400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr9:96373200-96376000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr9:96373400-96374200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:96373400-96374400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr9:96373400-96375000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:96373400-96375000	Weak transcription	Fetal Muscle Leg	muscle
39	chr9:96373400-96375000	Weak transcription	Fetal Thymus	thymus
40	chr9:96373400-96375200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:96373400-96375200	Weak transcription	Fetal Intestine Small	intestine
42	chr9:96373400-96377000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr9:96373400-96379400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:96373400-96379400	Weak transcription	Brain Anterior Caudate	brain
45	chr9:96373400-96379400	Weak transcription	Fetal Intestine Large	intestine
46	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
48	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
49	chr9:96373600-96379400	Weak transcription	Brain Germinal Matrix	brain
50	chr9:96373800-96379000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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