Variant report

Variant	nsv528681
Chromosome Location	chr6:12340034-12362219
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:12361881..12364401-chr6:12373576..12375787,2	K562	blood:
2	chr6:12334406..12337144-chr6:12347529..12350449,2	MCF-7	breast:
3	chr6:12288259..12289080-chr6:12343666..12344329,3	MCF-7	breast:
4	chr6:12329368..12332356-chr6:12340558..12342942,2	MCF-7	breast:
5	chr6:12361017..12362754-chr6:12410226..12412177,2	K562	blood:
6	chr6:12341804..12346306-chr6:12347487..12351106,5	MCF-7	breast:
7	chr6:12341804..12346306-chr6:12347487..12351106,5	MCF-7	breast:
8	chr6:12341393..12343735-chr6:12346097..12348684,2	MCF-7	breast:
9	chr6:12324741..12326654-chr6:12344766..12346317,2	MCF-7	breast:
10	chr6:12348848..12351584-chr6:12352795..12355046,2	MCF-7	breast:
11	chr6:12286781..12289686-chr6:12349157..12350729,2	MCF-7	breast:
12	chr6:12323445..12325043-chr6:12354923..12356472,2	MCF-7	breast:
13	chr6:12288501..12289080-chr6:12343666..12344460,2	MCF-7	breast:
14	chr6:12326975..12328515-chr6:12341248..12343129,2	MCF-7	breast:
15	chr6:12341393..12343735-chr6:12346097..12348684,2	MCF-7	breast:
16	chr6:12343799..12344581-chr6:12371956..12372456,2	MCF-7	breast:
17	chr6:12348848..12351584-chr6:12352795..12355046,2	MCF-7	breast:

No data

Extended variants
information (count: 884 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6932390	chr6:12340034-12340035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375796368	chr6:12340051-12340052	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9471512	chr6:12340061-12340062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116832560	chr6:12340081-12340082	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546396676	chr6:12340087-12340088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35760591	chr6:12340134-12340135	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187768804	chr6:12340137-12340138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528690211	chr6:12340160-12340161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541076333	chr6:12340206-12340207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560844040	chr6:12340280-12340281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79223942	chr6:12340307-12340308	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575517134	chr6:12340311-12340312	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544615517	chr6:12340323-12340324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs116099328	chr6:12340362-12340363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12191869	chr6:12340393-12340394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111240527	chr6:12340426-12340427	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs551945264	chr6:12340438-12340439	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147902878	chr6:12340439-12340440	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534519293	chr6:12340442-12340443	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200181194	chr6:12340450-12340451	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568475916	chr6:12340475-12340476	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530011149	chr6:12340488-12340489	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141754189	chr6:12340506-12340507	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190916140	chr6:12340550-12340551	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143644983	chr6:12340558-12340559	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372396755	chr6:12340559-12340560	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182907941	chr6:12340569-12340570	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546480924	chr6:12340575-12340576	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115385905	chr6:12340602-12340603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187866328	chr6:12340604-12340605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147077979	chr6:12340629-12340630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148172697	chr6:12340641-12340642	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs142023380	chr6:12340652-12340653	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543013396	chr6:12340655-12340656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150266689	chr6:12340673-12340674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs71551302	chr6:12340674-12340675	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116070739	chr6:12340711-12340712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535754022	chr6:12340798-12340799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376354749	chr6:12340816-12340817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9471514	chr6:12340817-12340818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565856569	chr6:12340831-12340832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528254817	chr6:12340832-12340833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532201392	chr6:12340848-12340849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548116528	chr6:12340861-12340862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191787624	chr6:12340863-12340864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551837654	chr6:12340892-12340893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537586918	chr6:12340908-12340909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369774246	chr6:12340910-12340911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555563861	chr6:12340916-12340917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570814664	chr6:12340923-12340924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12332000-12340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:12332200-12344000	Weak transcription	Aorta	Aorta
3	chr6:12332600-12340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:12335000-12342000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:12335000-12342000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:12336000-12343400	Weak transcription	Fetal Kidney	kidney
7	chr6:12336800-12340200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:12336800-12341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:12336800-12341800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:12336800-12342000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:12336800-12342000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:12337000-12340200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:12337000-12341400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:12337000-12341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:12337000-12341600	Weak transcription	Stomach Mucosa	stomach
16	chr6:12337000-12341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:12337200-12341400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:12337200-12342000	Weak transcription	Hela-S3	cervix
19	chr6:12337200-12348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:12338200-12343000	Enhancers	Liver	Liver
21	chr6:12338200-12345800	Enhancers	Fetal Intestine Small	intestine
22	chr6:12338600-12342600	Enhancers	A549	lung
23	chr6:12338800-12340600	Enhancers	Duodenum Mucosa	Duodenum
24	chr6:12338800-12345800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:12339000-12346200	Enhancers	Fetal Intestine Large	intestine
26	chr6:12339400-12340400	Weak transcription	NHEK	skin
27	chr6:12339600-12340200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr6:12339600-12340200	Enhancers	Small Intestine	intestine
29	chr6:12339800-12340600	Enhancers	Colonic Mucosa	Colon
30	chr6:12339800-12340600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:12339800-12340800	Flanking Active TSS	HepG2	liver
32	chr6:12339800-12341000	Enhancers	Pancreas	Pancrea
33	chr6:12340000-12340200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:12340000-12340400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:12340000-12340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:12340200-12340600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:12340200-12340800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:12340200-12340800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:12340200-12341400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:12340200-12341600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:12340200-12342000	Weak transcription	Small Intestine	intestine
42	chr6:12340400-12340600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:12340400-12340800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:12340400-12341000	Enhancers	NHEK	skin
45	chr6:12340400-12341800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:12340400-12342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:12340600-12341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:12340600-12341600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:12340600-12341600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:12340600-12341800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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