Variant report

Variant	esv3472386
Chromosome Location	chr6:32172850-32175137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
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	MAX	chr6:32172702-32173003	NB4	blood:	n/a	chr6:32172867-32172877 chr6:32172866-32172877 chr6:32172865-32172880 chr6:32172868-32172875 chr6:32172867-32172876 chr6:32172867-32172876 chr6:32172866-32172877
2	MAX	chr6:32172770-32173019	K562	blood:	n/a	chr6:32172867-32172877 chr6:32172866-32172877 chr6:32172865-32172880 chr6:32172868-32172875 chr6:32172867-32172876 chr6:32172867-32172876 chr6:32172866-32172877
3	POLR2A	chr6:32173640-32173729	HUVEC	blood vessel:	n/a	n/a
4	USF1	chr6:32172743-32172941	A549	lung:	n/a	n/a
5	USF1	chr6:32172759-32173079	K562	blood:	n/a	n/a
6	USF1	chr6:32172777-32172941	SK-N-SH_RA	brain:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:32173526-32173576	NT2-D1	testis:	n/a
2	chr6:32175001-32175051	HMEC	breast:	n/a
3	chr6:32173526-32173576	GM12891	blood:	n/a
4	chr6:32172871-32172921	HCT-116	colon:	n/a
5	chr6:32172871-32172921	NHDF-neo	bronchial:	n/a
6	chr6:32173526-32173576	AG09319	gingival:	n/a
7	chr6:32173532-32173582	U87	brain:	n/a
8	chr6:32175001-32175051	HEEpiC	esophagus:	n/a
9	chr6:32175001-32175051	AG04450	lung:	fetal
10	chr6:32175001-32175051	BE2_C	brain:	n/a
11	chr6:32173532-32173582	MCF-7	breast:	n/a
12	chr6:32175001-32175051	HRCEpiC	kidney:	n/a
13	chr6:32173526-32173576	PANC-1	pancreas:	n/a
14	chr6:32173526-32173576	BE2_C	brain:	n/a
15	chr6:32172871-32172921	IMR90	lung:	fetal
16	chr6:32172871-32172921	PFSK-1	brain:	n/a
17	chr6:32173526-32173576	NH-A	brain:	n/a
18	chr6:32173526-32173576	U87	brain:	n/a
19	chr6:32173532-32173582	NHDF-neo	bronchial:	n/a
20	chr6:32172871-32172921	GM19239	blood:	n/a
21	chr6:32172871-32172921	GM12892	blood:	n/a
22	chr6:32173526-32173576	PFSK-1	brain:	n/a
23	chr6:32173532-32173582	LNCaP	prostate:	n/a
24	chr6:32173532-32173582	NB4	blood:	n/a
25	chr6:32175001-32175051	Hela-S3	cervix:	n/a
26	chr6:32173532-32173582	K562	blood:	n/a
27	chr6:32173532-32173582	Jurkat	blood:	n/a
28	chr6:32172871-32172921	SKMC	muscle:	n/a
29	chr6:32172871-32172921	AG04450	lung:	fetal
30	chr6:32172871-32172921	AG10803	skin:	n/a
31	chr6:32172871-32172921	HPAEpiC	pulmonary alveolar:	n/a
32	chr6:32173532-32173582	A549	lung:	n/a
33	chr6:32175001-32175051	HRPEpiC	eye:	n/a
34	chr6:32175001-32175051	MCF10A-Er-Src	breast:	n/a
35	chr6:32172871-32172921	CMK	blood:	n/a
36	chr6:32175001-32175051	SK-N-SH_RA	brain:	n/a
37	chr6:32173526-32173576	HIPEpiC	eye:	n/a
38	chr6:32175001-32175051	H1-hESC	embryonic stem cell:	embryo
39	chr6:32172871-32172921	Hela-S3	cervix:	n/a
40	chr6:32173526-32173576	ECC-1	luminal epithelium:	n/a
41	chr6:32175001-32175051	PANC-1	pancreas:	n/a
42	chr6:32173526-32173576	SK-N-SH	brain:	n/a
43	chr6:32172871-32172921	NH-A	brain:	n/a
44	chr6:32172871-32172921	BJ	skin:	n/a
45	chr6:32172871-32172921	SK-N-SH_RA	brain:	n/a
46	chr6:32172871-32172921	U87	brain:	n/a
47	chr6:32172871-32172921	HAEpiC	amniotic membrane:	n/a
48	chr6:32175001-32175051	GM19239	blood:	n/a
49	chr6:32172871-32172921	ovcar-3	ovarian:	n/a
50	chr6:32175001-32175051	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:32163678..32165396-chr6:32171995..32174452,2	MCF-7	breast:
2	chr6:32171437..32174131-chr6:32935773..32937890,2	MCF-7	breast:
3	chr6:32167489..32170434-chr6:32172263..32174316,2	MCF-7	breast:
4	chr6:32121097..32122927-chr6:32174571..32177508,2	K562	blood:
5	chr6:32161088..32165326-chr6:32169271..32173030,5	MCF-7	breast:
6	chr6:32163481..32169034-chr6:32169524..32172955,12	K562	blood:

No data

Variant related genes	Relation type
NOTCH4	TF binding region
NOTCH4	CpG island
ENSG00000204301	chromatin interactions
ENSG00000204314	chromatin interactions
ENSG00000213654	chromatin interactions
ENSG00000258388	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000221988	chromatin interactions
ENSG00000204257	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551280714	chr6:32172925-32172926	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs533701926	chr6:32172949-32172950	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs566094187	chr6:32173048-32173049	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs533430932	chr6:32173049-32173050	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs551588632	chr6:32173054-32173055	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs375072846	chr6:32173072-32173073	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs560545285	chr6:32173095-32173096	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs371471257	chr6:32173101-32173102	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs9380285	chr6:32173158-32173159	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs186985726	chr6:32173182-32173183	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs9267823	chr6:32173238-32173239	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568069782	chr6:32173239-32173240	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs535072523	chr6:32173256-32173257	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs3131295	chr6:32173257-32173258	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569200717	chr6:32173281-32173282	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs191764823	chr6:32173299-32173300	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs567786435	chr6:32173309-32173310	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs538328410	chr6:32173317-32173318	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs558023104	chr6:32173318-32173319	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs13204706	chr6:32173346-32173347	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs116757423	chr6:32173384-32173385	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs538876916	chr6:32173415-32173416	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs114778428	chr6:32173427-32173428	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs184320966	chr6:32173455-32173456	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs371907944	chr6:32173456-32173457	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs201058866	chr6:32173465-32173466	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs571328286	chr6:32173526-32173527	Weak transcription	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs187468919	chr6:32173527-32173528	Weak transcription	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs193183134	chr6:32173538-32173539	Weak transcription	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs138753323	chr6:32173599-32173600	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs185444281	chr6:32173614-32173615	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs112635766	chr6:32173703-32173704	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs9469090	chr6:32173729-32173730	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs527851524	chr6:32173738-32173739	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs142743704	chr6:32173739-32173740	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs112126052	chr6:32173757-32173758	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183637555	chr6:32173778-32173779	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs2555457	chr6:32173800-32173801	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188343998	chr6:32173809-32173810	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs200020074	chr6:32173824-32173825	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs116620413	chr6:32173940-32173941	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs558039567	chr6:32173952-32173953	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs28893520	chr6:32174005-32174006	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs2849017	chr6:32174048-32174049	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535268108	chr6:32174079-32174080	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs9469091	chr6:32174116-32174117	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs185575714	chr6:32174176-32174177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556180981	chr6:32174177-32174178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs59322125	chr6:32174240-32174241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149498245	chr6:32174268-32174269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32165200-32190200	Weak transcription	Right Atrium	heart
2	chr6:32165400-32179800	Weak transcription	Spleen	Spleen
3	chr6:32165400-32183000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:32165400-32190200	Weak transcription	Gastric	stomach
5	chr6:32166600-32173200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:32169800-32173000	Strong transcription	HUVEC	blood vessel
7	chr6:32171400-32173000	Strong transcription	Adipose Nuclei	Adipose
8	chr6:32172000-32185800	Weak transcription	Right Ventricle	heart
9	chr6:32172400-32180200	Weak transcription	Lung	lung
10	chr6:32172400-32184200	Weak transcription	Left Ventricle	heart
11	chr6:32173000-32176800	Weak transcription	HUVEC	blood vessel
12	chr6:32173000-32179600	Weak transcription	Adipose Nuclei	Adipose
13	chr6:32173200-32174400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:32174400-32179200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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