Variant report

Variant	nsv965688
Chromosome Location	chr6:24498821-24503046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:24499220-24499370	HEK293	kidney:	n/a	n/a
2	FOS	chr6:24501014-24501117	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:24500934-24501214	MCF10A-Er-Src	breast:	n/a	n/a
4	HNF4A	chr6:24502188-24502552	HepG2	liver:	n/a	chr6:24502341-24502356
5	HNF4A	chr6:24502218-24502475	HepG2	liver:	n/a	chr6:24502341-24502356
6	HNF4G	chr6:24502164-24502485	HepG2	liver:	n/a	chr6:24502340-24502355

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:24499591-24499641	HEEpiC	esophagus:	n/a
2	chr6:24499591-24499641	SKMC	muscle:	n/a
3	chr6:24499591-24499641	BE2_C	brain:	n/a
4	chr6:24499591-24499641	HNPCEpiC	eye:	n/a
5	chr6:24499591-24499641	HCM	heart:	n/a
6	chr6:24499591-24499641	GM12878	blood:	n/a
7	chr6:24499591-24499641	RPTEC	kidney:	n/a
8	chr6:24499591-24499641	GM12891	blood:	n/a
9	chr6:24499591-24499641	PANC-1	pancreas:	n/a
10	chr6:24499591-24499641	AG04450	lung:	fetal
11	chr6:24499591-24499641	ProgFib	skin:	n/a
12	chr6:24499591-24499641	ovcar-3	ovarian:	n/a
13	chr6:24499591-24499641	HAEpiC	amniotic membrane:	n/a
14	chr6:24499591-24499641	Jurkat	blood:	n/a
15	chr6:24499591-24499641	HUVEC	blood vessel:	n/a
16	chr6:24499591-24499641	NB4	blood:	n/a
17	chr6:24499591-24499641	GM06990	blood:	n/a
18	chr6:24499591-24499641	BJ	skin:	n/a
19	chr6:24499591-24499641	GM19239	blood:	n/a
20	chr6:24499591-24499641	HRPEpiC	eye:	n/a
21	chr6:24499591-24499641	T-47D	breast:	n/a
22	chr6:24499591-24499641	MCF10A-Er-Src	breast:	n/a
23	chr6:24499591-24499641	HepG2	liver:	n/a
24	chr6:24499591-24499641	SK-N-SH	brain:	n/a
25	chr6:24499591-24499641	IMR90	lung:	fetal
26	chr6:24499591-24499641	NT2-D1	testis:	n/a
27	chr6:24499591-24499641	HEK293	kidney:	embryo
28	chr6:24499591-24499641	HMEC	breast:	n/a
29	chr6:24499591-24499641	AG10803	skin:	n/a
30	chr6:24499591-24499641	ECC-1	luminal epithelium:	n/a
31	chr6:24499591-24499641	GM12892	blood:	n/a
32	chr6:24499591-24499641	Caco-2	colon:	n/a
33	chr6:24499591-24499641	U87	brain:	n/a
34	chr6:24499591-24499641	HCPEpiC	choroid plexus:	n/a
35	chr6:24499591-24499641	HRE	kidney:	n/a
36	chr6:24499591-24499641	MCF-7	breast:	n/a
37	chr6:24499591-24499641	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:24499591-24499641	K562	blood:	n/a
39	chr6:24499591-24499641	H1-hESC	embryonic stem cell:	embryo
40	chr6:24499591-24499641	A549	lung:	n/a
41	chr6:24499591-24499641	NH-A	brain:	n/a
42	chr6:24499591-24499641	PFSK-1	brain:	n/a
43	chr6:24499591-24499641	HCT-116	colon:	n/a
44	chr6:24499591-24499641	NHDF-neo	bronchial:	n/a
45	chr6:24499591-24499641	AoSMC	blood vessel:	n/a
46	chr6:24499591-24499641	CMK	blood:	n/a
47	chr6:24499591-24499641	HRCEpiC	kidney:	n/a
48	chr6:24499591-24499641	HCF	heart:	n/a
49	chr6:24499591-24499641	PrEC	prostate:	n/a
50	chr6:24499591-24499641	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:24497206..24500144-chr6:24502439..24504926,2	MCF-7	breast:
2	chr6:24502718..24505589-chr6:24714099..24715780,2	K562	blood:
3	chr6:24496929..24500234-chr6:24504252..24507783,4	K562	blood:
4	chr6:24501950..24504641-chr6:24720366..24723050,2	MCF-7	breast:
5	chr6:24495001..24497479-chr6:24499554..24501071,2	MCF-7	breast:
6	chr6:24432825..24434367-chr6:24500694..24503119,2	K562	blood:
7	chr6:24495638..24500234-chr6:24504925..24509115,5	K562	blood:
8	chr6:24491848..24494534-chr6:24497211..24499675,3	MCF-7	breast:
9	chr6:24500345..24502896-chr6:24503949..24507789,3	K562	blood:
10	chr6:24493719..24496682-chr6:24502881..24505114,2	K562	blood:
11	chr6:24478986..24481425-chr6:24502139..24505080,2	K562	blood:
12	chr6:24493044..24496959-chr6:24499053..24507631,9	MCF-7	breast:
13	chr6:24497206..24500144-chr6:24502439..24504926,2	MCF-7	breast:
14	chr6:24494491..24496664-chr6:24497344..24498908,3	K562	blood:
15	chr6:24491857..24498070-chr6:24502018..24507031,7	MCF-7	breast:

No data

Variant related genes	Relation type
GPLD1	TF binding region
GPLD1	CpG island
ENSG00000112293	chromatin interactions
ENSG00000112308	chromatin interactions
ENSG00000112294	chromatin interactions

Extended variants
information (count: 238 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34407540	chr6:24498832-24498833	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536987253	chr6:24498840-24498841	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145076722	chr6:24498884-24498885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185080095	chr6:24498900-24498901	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569048838	chr6:24498915-24498916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147531984	chr6:24498929-24498930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139424793	chr6:24498943-24498944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577269102	chr6:24498954-24498955	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189549179	chr6:24498962-24498963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563182562	chr6:24498963-24498964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529048580	chr6:24498978-24498979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542585489	chr6:24498985-24498986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368948267	chr6:24499021-24499022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181242760	chr6:24499026-24499027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528495984	chr6:24499030-24499031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551725813	chr6:24499044-24499045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377603323	chr6:24499054-24499055	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75564983	chr6:24499056-24499057	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373497758	chr6:24499084-24499085	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369021471	chr6:24499115-24499116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551086796	chr6:24499117-24499118	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186412032	chr6:24499129-24499130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536824774	chr6:24499147-24499148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2744578	chr6:24499157-24499158	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs191098021	chr6:24499200-24499201	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183811917	chr6:24499203-24499204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557692942	chr6:24499205-24499206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577206813	chr6:24499220-24499221	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs188350850	chr6:24499236-24499237	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs149193431	chr6:24499243-24499244	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs12183971	chr6:24499260-24499261	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146830531	chr6:24499285-24499286	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs140498591	chr6:24499290-24499291	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs528341414	chr6:24499311-24499312	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs577980457	chr6:24499330-24499331	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs56365292	chr6:24499347-24499348	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs375069900	chr6:24499348-24499349	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs545082969	chr6:24499351-24499352	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565320384	chr6:24499409-24499410	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs35386584	chr6:24499411-24499412	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs191217964	chr6:24499422-24499423	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551127999	chr6:24499431-24499432	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs115363771	chr6:24499448-24499449	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7775307	chr6:24499469-24499470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs183218273	chr6:24499476-24499477	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs567059193	chr6:24499479-24499480	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532997063	chr6:24499501-24499502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs539357285	chr6:24499502-24499503	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs74519351	chr6:24499503-24499504	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs13219810	chr6:24499524-24499525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24495800-24517800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:24496000-24501600	Weak transcription	A549	lung
3	chr6:24496000-24513000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:24496000-24517800	Weak transcription	Spleen	Spleen
5	chr6:24496000-24534200	Weak transcription	Gastric	stomach
6	chr6:24496000-24538000	Weak transcription	Esophagus	oesophagus
7	chr6:24496200-24502200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:24496200-24502400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:24496200-24503000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:24496200-24503400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:24496200-24503600	Weak transcription	Aorta	Aorta
12	chr6:24496200-24503600	Weak transcription	Ovary	ovary
13	chr6:24496200-24503600	Weak transcription	Pancreas	Pancrea
14	chr6:24496200-24503800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:24496200-24503800	Weak transcription	Fetal Brain Female	brain
16	chr6:24496200-24504000	Weak transcription	Fetal Lung	lung
17	chr6:24496200-24505000	Weak transcription	Right Ventricle	heart
18	chr6:24496200-24506200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:24496200-24526400	Weak transcription	Right Atrium	heart
20	chr6:24496200-24527800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:24496200-24534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:24496200-24535000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:24496200-24536200	Weak transcription	Psoas Muscle	Psoas
24	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
25	chr6:24496400-24503400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:24496400-24503400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:24496400-24503600	Weak transcription	Fetal Kidney	kidney
28	chr6:24496400-24503800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:24496400-24517200	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:24496400-24532200	Weak transcription	Brain Germinal Matrix	brain
31	chr6:24496600-24502400	Weak transcription	Fetal Intestine Large	intestine
32	chr6:24496600-24502800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:24496600-24503200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:24496600-24503600	Weak transcription	Brain Anterior Caudate	brain
35	chr6:24496600-24503600	Weak transcription	Left Ventricle	heart
36	chr6:24496600-24504000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:24496600-24505000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:24496600-24507000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:24496600-24507400	Weak transcription	Fetal Brain Male	brain
40	chr6:24496600-24512400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:24496800-24499000	Strong transcription	Primary T cells from cord blood	blood
42	chr6:24496800-24502400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:24496800-24502400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:24496800-24503400	Weak transcription	Adipose Nuclei	Adipose
45	chr6:24496800-24503600	Weak transcription	Brain Angular Gyrus	brain
46	chr6:24496800-24503600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:24496800-24507600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:24496800-24508800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:24496800-24517600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:24496800-24522800	Weak transcription	Lung	lung

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