Variant report

Variant	nsv6636
Chromosome Location	chr9:102197504-102242604
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:102227904..102230696-chr9:102232714..102234931,2	K562	blood:
2	chr9:102228487..102230260-chr9:102232169..102234766,3	MCF-7	breast:
3	chr9:102196130..102198147-chr9:102198447..102200245,2	K562	blood:
4	chr9:102221979..102223697-chr9:102232085..102234861,2	MCF-7	breast:
5	chr9:102221979..102223697-chr9:102232085..102234861,2	MCF-7	breast:
6	chr9:102236510..102239704-chr9:102241067..102243544,3	K562	blood:
7	chr1:149223188..149225397-chr9:102200089..102202544,2	MCF-7	breast:
8	chr9:102199715..102203075-chr9:102205928..102208429,4	MCF-7	breast:
9	chr9:102196130..102198135-chr9:102198447..102201334,2	K562	blood:
10	chr9:102227904..102230696-chr9:102232714..102234931,2	K562	blood:
11	chr9:102199715..102203075-chr9:102205928..102208429,4	MCF-7	breast:
12	chr9:102196130..102198135-chr9:102198447..102201334,2	K562	blood:
13	chr9:102228487..102230260-chr9:102232169..102234766,3	MCF-7	breast:
14	chr9:102236510..102239704-chr9:102241067..102243544,3	K562	blood:
15	chr9:102196130..102198147-chr9:102198447..102200245,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 1330 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1330 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139698386	chr9:102197522-102197523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558170546	chr9:102197536-102197537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117398910	chr9:102197585-102197586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540521007	chr9:102197587-102197588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566303272	chr9:102197595-102197596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552387567	chr9:102197611-102197612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34038103	chr9:102197621-102197622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367852046	chr9:102197679-102197680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185532298	chr9:102197718-102197719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574116085	chr9:102197807-102197808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541544193	chr9:102197822-102197823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561473921	chr9:102197824-102197825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187978362	chr9:102197846-102197847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61164769	chr9:102197900-102197901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563923693	chr9:102197918-102197919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533260003	chr9:102197931-102197932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192253987	chr9:102198042-102198043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201132089	chr9:102198063-102198064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7043595	chr9:102198068-102198069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113279722	chr9:102198116-102198117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116755927	chr9:102198266-102198267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569411060	chr9:102198277-102198278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184228846	chr9:102198307-102198308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551800156	chr9:102198365-102198366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188572852	chr9:102198367-102198368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571507471	chr9:102198383-102198384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144195656	chr9:102198386-102198387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140589846	chr9:102198440-102198441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181610826	chr9:102198453-102198454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576816032	chr9:102198477-102198478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536481864	chr9:102198512-102198513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144449663	chr9:102198516-102198517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537001952	chr9:102198536-102198537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10988826	chr9:102198538-102198539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112114310	chr9:102198541-102198542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543858236	chr9:102198609-102198610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564118059	chr9:102198642-102198643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577533576	chr9:102198646-102198647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540543129	chr9:102198649-102198650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1530379	chr9:102198655-102198656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77642292	chr9:102198656-102198657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529188588	chr9:102198672-102198673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147828444	chr9:102198700-102198701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189948739	chr9:102198706-102198707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531849768	chr9:102198732-102198733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115440600	chr9:102198820-102198821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139635461	chr9:102198824-102198825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533964975	chr9:102198831-102198832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142564625	chr9:102198839-102198840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375019968	chr9:102198876-102198877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102192200-102197600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:102193400-102197800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:102194200-102199800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:102195400-102202800	Enhancers	NHDF-Ad	bronchial
5	chr9:102195600-102197800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:102195600-102197800	Enhancers	NHLF	lung
7	chr9:102195800-102197600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:102196600-102199000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:102196600-102199200	Weak transcription	HSMMtube	muscle
10	chr9:102196600-102200400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:102196800-102200800	Weak transcription	Osteobl	bone
12	chr9:102197000-102198400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:102197000-102199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:102197000-102200000	Weak transcription	NHEK	skin
15	chr9:102197000-102200200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:102197000-102200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:102197000-102200200	Weak transcription	HMEC	breast
18	chr9:102197000-102200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:102197000-102207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:102197600-102199000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:102197800-102198200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:102197800-102200600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:102198200-102201400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:102198400-102199200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr9:102198600-102199200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:102198600-102199200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:102198800-102199400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:102199000-102199400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:102199000-102199800	Enhancers	Pancreas	Pancrea
30	chr9:102199000-102201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:102199200-102199600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:102199200-102200200	Enhancers	Fetal Muscle Leg	muscle
33	chr9:102199200-102200200	Enhancers	HSMMtube	muscle
34	chr9:102199400-102199600	Enhancers	Thymus	Thymus
35	chr9:102200000-102201000	Enhancers	NHEK	skin
36	chr9:102200200-102200400	Enhancers	Thymus	Thymus
37	chr9:102200200-102201000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:102200200-102201000	Enhancers	HMEC	breast
39	chr9:102200200-102201200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:102200400-102201000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:102200600-102200800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:102200600-102201200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:102201000-102207000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:102202800-102203000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:102202800-102206600	Weak transcription	NHDF-Ad	bronchial
46	chr9:102203000-102203200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:102206000-102207000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:102206000-102208000	Enhancers	Fetal Heart	heart
49	chr9:102206600-102207800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr9:102206600-102207800	Enhancers	NHDF-Ad	bronchial

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