Variant report

Variant	nsv1022232
Chromosome Location	chr9:12326552-12643876
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:10365979..10366914-chr9:12329143..12329893,2	MCF-7	breast:
2	chr9:10855600..10856394-chr9:12425953..12426703,2	MCF-7	breast:
3	chr9:12631997..12633907-chr9:12634270..12637039,2	MCF-7	breast:
4	chr1:149223798..149224416-chr9:12526808..12527328,4	MCF-7	breast:
5	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:
6	chr1:186649939..186650766-chr9:12429991..12430491,2	Hela-S3	cervix:
7	chr9:12631997..12633907-chr9:12634270..12637039,2	MCF-7	breast:
8	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:
9	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:
10	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:
11	chr9:12554435..12555308-chr9:12639713..12640600,2	MCF-7	breast:
12	chr6:116381055..116381867-chr9:12405688..12406208,2	Hela-S3	cervix:
13	chr9:12607055..12609983-chr9:12671838..12674027,2	K562	blood:
14	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:
15	chr9:10855828..10856443-chr9:12329128..12329639,2	MCF-7	breast:
16	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:
17	chr9:12526692..12528486-chr9:12531576..12533111,2	MCF-7	breast:
18	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
19	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
20	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:
21	chr9:12526692..12528486-chr9:12531576..12533111,2	MCF-7	breast:
22	chr9:12554435..12555308-chr9:12639713..12640600,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 5069 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:5069 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111681668	chr9:12326567-12326568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541390398	chr9:12326574-12326575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561551763	chr9:12326578-12326579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10960597	chr9:12326625-12326626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540778697	chr9:12326627-12326628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554928191	chr9:12326639-12326640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564298018	chr9:12326661-12326662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533210722	chr9:12326662-12326663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550081624	chr9:12326665-12326666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563861253	chr9:12326705-12326706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570003087	chr9:12326722-12326723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529216764	chr9:12326734-12326735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138517015	chr9:12326738-12326739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568364272	chr9:12326746-12326747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534256942	chr9:12326787-12326788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567661487	chr9:12326813-12326814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554013432	chr9:12326818-12326819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4741219	chr9:12326835-12326836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539673143	chr9:12326880-12326881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116771070	chr9:12326888-12326889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576300732	chr9:12326968-12326969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370087970	chr9:12326996-12326997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542120892	chr9:12327015-12327016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112306995	chr9:12327032-12327033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560123909	chr9:12327038-12327039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574412187	chr9:12327056-12327057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534512436	chr9:12327092-12327093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113950529	chr9:12327133-12327134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533148220	chr9:12327134-12327135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7854082	chr9:12327143-12327144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557459248	chr9:12327155-12327156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141884849	chr9:12327172-12327173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188091327	chr9:12327178-12327179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146269200	chr9:12327188-12327189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139352260	chr9:12327203-12327204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181467562	chr9:12327207-12327208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527730100	chr9:12327211-12327212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186208585	chr9:12327239-12327240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7040779	chr9:12327294-12327295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192011782	chr9:12327295-12327296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371238789	chr9:12327314-12327315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149931339	chr9:12327321-12327322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181644091	chr9:12327368-12327369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554004235	chr9:12327386-12327387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555835145	chr9:12327398-12327399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75082446	chr9:12327407-12327408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534359060	chr9:12327429-12327430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186440997	chr9:12327454-12327455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567450456	chr9:12327456-12327457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112477962	chr9:12327458-12327459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12324400-12329000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:12328800-12329000	Enhancers	Liver	Liver
3	chr9:12328800-12329000	Enhancers	Pancreas	Pancrea
4	chr9:12329000-12329200	Enhancers	Adipose Nuclei	Adipose
5	chr9:12329000-12329200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:12329000-12329200	Enhancers	Fetal Muscle Trunk	muscle
7	chr9:12329000-12329400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:12329000-12329400	Flanking Active TSS	Liver	Liver
9	chr9:12329000-12329600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:12329000-12329600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:12329000-12329600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr9:12329000-12329600	Flanking Active TSS	Pancreas	Pancrea
13	chr9:12329000-12329600	Active TSS	HepG2	liver
14	chr9:12329200-12329400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr9:12329200-12329400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr9:12329200-12329600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:12329200-12329600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:12329200-12329600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:12329200-12329600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:12329200-12329600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:12329200-12329600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:12329200-12329600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr9:12329200-12329600	Active TSS	Brain Angular Gyrus	brain
24	chr9:12329200-12329600	Active TSS	Brain Cingulate Gyrus	brain
25	chr9:12329200-12329600	Active TSS	Brain Hippocampus Middle	brain
26	chr9:12329200-12329600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr9:12329200-12329600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:12329200-12329600	Active TSS	Brain Substantia Nigra	brain
29	chr9:12329200-12329600	Active TSS	Fetal Kidney	kidney
30	chr9:12329200-12329600	Enhancers	Fetal Lung	lung
31	chr9:12329200-12329600	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr9:12329200-12329600	Enhancers	Gastric	stomach
33	chr9:12329200-12329600	Enhancers	Lung	lung
34	chr9:12329200-12329600	Active TSS	Right Atrium	heart
35	chr9:12329200-12329600	Active TSS	Stomach Smooth Muscle	stomach
36	chr9:12329200-12329600	Enhancers	HUVEC	blood vessel
37	chr9:12329400-12329600	Active TSS	Liver	Liver
38	chr9:12329400-12329600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr9:12329400-12329600	Enhancers	Fetal Muscle Leg	muscle
40	chr9:12334000-12334200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:12340600-12341000	Enhancers	Liver	Liver
42	chr9:12350800-12352400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:12351600-12352800	Enhancers	Fetal Brain Male	brain
44	chr9:12354400-12354600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:12354600-12357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:12357400-12357600	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:12357600-12360800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:12360200-12362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:12362000-12362400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:12362200-12363400	Enhancers	Fetal Heart	heart

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