Variant report

Variant	nsv981120
Chromosome Location	chr6:27746371-27751747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:27746480-27746630	HepG2	liver:	n/a	n/a
2	EP300	chr6:27746897-27746930	K562	blood:	n/a	n/a
3	EP300	chr6:27746808-27746819	K562	blood:	n/a	n/a
4	FOS	chr6:27746726-27747174	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:27746835-27747159	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:27746830-27747174	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:27746855-27747146	MCF10A-Er-Src	breast:	n/a	n/a
8	IRF1	chr6:27750952-27750973	K562	blood:	n/a	n/a
9	JUND	chr6:27746944-27746982	K562	blood:	n/a	n/a
10	KAP1	chr6:27746709-27746860	K562	blood:	n/a	n/a
11	MAFF	chr6:27746863-27747076	K562	blood:	n/a	n/a
12	MAFK	chr6:27746877-27747059	K562	blood:	n/a	n/a
13	MAFK	chr6:27746881-27747119	HepG2	liver:	n/a	n/a
14	SPI1	chr6:27746497-27746672	K562	blood:	n/a	n/a
15	SREBP2	chr6:27744503-27747003	GM12878	blood:	n/a	n/a
16	STAT3	chr6:27746859-27747148	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr6:27746886-27747206	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr6:27746992-27747127	MCF10A-Er-Src	breast:	n/a	n/a
19	TEAD4	chr6:27745156-27747002	K562	blood:	n/a	chr6:27746337-27746346
20	YY1	chr6:27746699-27746919	K562	blood:	n/a	n/a
21	ZNF384	chr6:27746687-27746888	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27113391..27118282-chr6:27750926..27755180,4	K562	blood:
2	chr6:27114055..27115992-chr6:27750926..27753050,2	K562	blood:
3	chr6:27100313..27102591-chr6:27743747..27746593,3	K562	blood:
4	chr6:27461978..27464683-chr6:27744618..27746788,2	K562	blood:
5	chr6:27461978..27463563-chr6:27744301..27746788,2	K562	blood:
6	chr6:27106342..27108583-chr6:27745560..27747825,2	K562	blood:
7	chr6:27744586..27748272-chr6:27756903..27759108,3	MCF-7	breast:
8	chr6:27744761..27747867-chr6:27758538..27761675,3	MCF-7	breast:
9	chr6:27739073..27741027-chr6:27745777..27747654,2	MCF-7	breast:
10	chr6:27481158..27483967-chr6:27745057..27747671,2	K562	blood:
11	chr6:27750078..27752757-chr6:27753756..27756420,3	MCF-7	breast:
12	chr6:27745777..27747723-chr6:27753889..27756682,2	MCF-7	breast:
13	chr6:27640023..27641609-chr6:27744727..27746412,2	K562	blood:

No data

Variant related genes	Relation type
RSL24D1P1	TF binding region
ENSG00000124635	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000198339	chromatin interactions
ENSG00000270666	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs192622173	chr6:27746376-27746377	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs184446325	chr6:27746412-27746413	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs188956491	chr6:27746413-27746414	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs574950424	chr6:27746456-27746457	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs140150366	chr6:27746486-27746487	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs560716335	chr6:27746535-27746536	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs529875259	chr6:27746550-27746551	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs10484401	chr6:27746590-27746591	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs532687876	chr6:27746617-27746618	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35069907	chr6:27746692-27746693	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs181792809	chr6:27746700-27746701	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372358463	chr6:27746719-27746720	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143807252	chr6:27746743-27746744	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529788294	chr6:27746754-27746755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs74839890	chr6:27746815-27746816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569812537	chr6:27746816-27746817	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530991159	chr6:27746819-27746820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551117720	chr6:27746864-27746865	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567790269	chr6:27746871-27746872	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536837294	chr6:27746880-27746881	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs61601593	chr6:27746908-27746909	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs398001074	chr6:27746920-27746921	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546918665	chr6:27746958-27746959	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567153679	chr6:27746978-27746979	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs536181906	chr6:27746979-27746980	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs73740805	chr6:27746983-27746984	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186344162	chr6:27747026-27747027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552419965	chr6:27747031-27747032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs9357048	chr6:27747042-27747043	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535583325	chr6:27747090-27747091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547823493	chr6:27747091-27747092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs59015666	chr6:27747231-27747232	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189585956	chr6:27747308-27747309	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs180883102	chr6:27747383-27747384	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560092313	chr6:27747411-27747412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577026146	chr6:27747430-27747431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs146348392	chr6:27747486-27747487	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546133372	chr6:27747492-27747493	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs77959820	chr6:27747568-27747569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs185244085	chr6:27747573-27747574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139318066	chr6:27747653-27747654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551029840	chr6:27747659-27747660	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs114370813	chr6:27747675-27747676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530182393	chr6:27747742-27747743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541110894	chr6:27747759-27747760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368283703	chr6:27747795-27747796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372487574	chr6:27747817-27747818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547127567	chr6:27747839-27747840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190841543	chr6:27747899-27747900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2893931	chr6:27748010-27748011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:100)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27743600-27750000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:27744200-27746400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:27745600-27746600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:27745600-27746600	Weak transcription	A549	lung
5	chr6:27745600-27746600	Active TSS	K562	blood
6	chr6:27745600-27746800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:27745600-27753200	Weak transcription	HepG2	liver
8	chr6:27746200-27748400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:27746400-27747000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:27746600-27746800	Enhancers	A549	lung
11	chr6:27746600-27747000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:27746600-27747000	Flanking Active TSS	K562	blood
13	chr6:27746600-27747000	Enhancers	NHEK	skin
14	chr6:27746800-27747000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:27747000-27748800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:27747000-27750000	Weak transcription	K562	blood
17	chr6:27748400-27748800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:27748800-27749000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr6:27748800-27754600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:27750000-27750800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr6:27750000-27751200	Enhancers	Fetal Intestine Small	intestine
22	chr6:27750000-27751600	Enhancers	K562	blood
23	chr6:27750200-27751400	Enhancers	Fetal Intestine Large	intestine
24	chr6:27750800-27751000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:27751000-27751200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:27751200-27751400	Enhancers	Colonic Mucosa	Colon
27	chr6:27751200-27751800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr6:27751200-27752600	Weak transcription	Fetal Intestine Small	intestine
29	chr6:27751400-27752600	Weak transcription	Fetal Intestine Large	intestine
30	chr6:27751600-27752000	Weak transcription	K562	blood
31	chr6:27751600-27759200	Weak transcription	Colonic Mucosa	Colon

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