Variant report

Variant	nsv819433
Chromosome Location	chr6:31917258-31917794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr6:31916830-31917281	GM12878	blood:	n/a	n/a
2	CEBPB	chr6:31916583-31917295	K562	blood:	n/a	chr6:31917019-31917030
3	CEBPB	chr6:31916520-31917351	K562	blood:	n/a	chr6:31917019-31917030
4	CEBPB	chr6:31916391-31917358	Hela-S3	cervix:	n/a	chr6:31917019-31917030
5	CEBPD	chr6:31916713-31917312	K562	blood:	n/a	n/a
6	CEBPD	chr6:31916495-31917269	K562	blood:	n/a	n/a
7	CUX1	chr6:31916677-31917304	K562	blood:	n/a	n/a
8	GTF2F1	chr6:31916253-31917286	Hela-S3	cervix:	n/a	n/a
9	HEY1	chr6:31915905-31920972	HepG2	liver:	n/a	n/a
10	HEY1	chr6:31917582-31917904	HepG2	liver:	n/a	n/a
11	IRF1	chr6:31917454-31917483	K562	blood:	n/a	chr6:31917460-31917472
12	JUN	chr6:31915155-31917716	K562	blood:	n/a	n/a
13	JUND	chr6:31916499-31917469	Hela-S3	cervix:	n/a	n/a
14	NFATC1	chr6:31916721-31917273	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:31917268-31917721	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr6:31914643-31919725	K562	blood:	n/a	n/a
17	POLR2A	chr6:31916370-31917687	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr6:31915671-31921101	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:31916536-31917268	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr6:31913107-31918251	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:31917320-31917323	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:31916510-31917372	HL-60	blood:	n/a	n/a
23	POLR2A	chr6:31917233-31917401	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr6:31917603-31917664	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:31915651-31917439	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:31915593-31917455	K562	blood:	n/a	n/a
27	POLR2A	chr6:31917792-31918280	K562	blood:	n/a	n/a
28	POLR2A	chr6:31917344-31918315	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr6:31917688-31918448	K562	blood:	n/a	n/a
30	POLR2A	chr6:31917228-31917259	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:31915769-31919475	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr6:31915975-31919697	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr6:31917487-31919068	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr6:31917686-31917695	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:31917726-31920816	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:31917449-31917798	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr6:31914588-31918238	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr6:31917697-31917712	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr6:31917630-31918475	HL-60	blood:	n/a	n/a
40	POLR2A	chr6:31916461-31917316	HCT-116	colon:	n/a	n/a
41	POLR2A	chr6:31916546-31919600	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr6:31912538-31923721	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:31915137-31920435	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr6:31917741-31918290	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr6:31914529-31923123	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:31916613-31918103	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr6:31917635-31918357	GM12892	blood:	n/a	n/a
48	POLR2A	chr6:31915719-31917495	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:31915818-31917436	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr6:31914901-31917358	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31864115..31868338-chr6:31917147..31921993,5	K562	blood:
2	chr6:31864040..31872511-chr6:31917614..31930102,27	MCF-7	breast:
3	chr6:31793907..31797035-chr6:31916814..31918857,3	K562	blood:
4	chr6:31862879..31872535-chr6:31911667..31928766,47	MCF-7	breast:
5	chr6:31868614..31871551-chr6:31914927..31918494,4	K562	blood:
6	chr6:31618645..31621732-chr6:31914935..31918984,4	K562	blood:
7	chr6:31795117..31796771-chr6:31916814..31918698,2	K562	blood:
8	chr6:31827981..31830842-chr6:31915280..31917835,3	K562	blood:
9	chr6:31864770..31867210-chr6:31916768..31918647,2	K562	blood:

No data

Variant related genes	Relation type
CFB	TF binding region
ENSG00000204371	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000166278	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000204388	chromatin interactions
ENSG00000204386	chromatin interactions
ENSG00000204366	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375168705	chr6:31917279-31917280	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs2072634	chr6:31917291-31917292	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs200837114	chr6:31917300-31917301	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs201798809	chr6:31917333-31917334	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs111740650	chr6:31917335-31917336	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs149691793	chr6:31917345-31917346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs201621618	chr6:31917363-31917364	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs371661852	chr6:31917448-31917449	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs556151342	chr6:31917503-31917504	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs4151657	chr6:31917540-31917541	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
11	rs575150094	chr6:31917557-31917558	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs530325253	chr6:31917576-31917577	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs575383260	chr6:31917585-31917586	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs115686284	chr6:31917659-31917660	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs564601481	chr6:31917679-31917680	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs528519983	chr6:31917709-31917710	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs546699122	chr6:31917761-31917762	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs561714547	chr6:31917791-31917792	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:133)

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
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
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
Breast cancer	21364760	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31908200-31918600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:31908800-31919400	Weak transcription	Ovary	ovary
3	chr6:31909200-31918800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:31913000-31918600	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:31913200-31920800	Weak transcription	Small Intestine	intestine
6	chr6:31913600-31917800	Weak transcription	A549	lung
7	chr6:31913600-31918600	Weak transcription	Brain Angular Gyrus	brain
8	chr6:31913600-31919000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:31913800-31918800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:31913800-31919400	Weak transcription	GM12878-XiMat	blood
11	chr6:31914000-31918400	Weak transcription	Brain Germinal Matrix	brain
12	chr6:31914200-31918000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:31914200-31918000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:31914200-31918400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:31914200-31918400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:31914200-31918600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:31914200-31919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:31914200-31919000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:31914200-31919200	Weak transcription	Aorta	Aorta
20	chr6:31914200-31919200	Weak transcription	HUVEC	blood vessel
21	chr6:31914200-31919400	Weak transcription	Left Ventricle	heart
22	chr6:31914200-31919600	Weak transcription	HSMMtube	muscle
23	chr6:31914200-31926000	Weak transcription	Right Atrium	heart
24	chr6:31914400-31917400	Enhancers	Placenta	Placenta
25	chr6:31914400-31918000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:31914400-31918200	Weak transcription	Adipose Nuclei	Adipose
27	chr6:31914400-31918600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:31914400-31918800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:31914400-31918800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:31914400-31919000	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:31914400-31919200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:31914600-31917800	Weak transcription	Primary T cells from cord blood	blood
33	chr6:31914600-31918200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:31914600-31918600	Weak transcription	Brain Anterior Caudate	brain
35	chr6:31914600-31918800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:31914600-31919000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:31914600-31919000	Weak transcription	Right Ventricle	heart
38	chr6:31914600-31919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:31914600-31919400	Weak transcription	HMEC	breast
40	chr6:31914800-31917600	Weak transcription	Fetal Thymus	thymus
41	chr6:31914800-31918000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:31914800-31918200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:31914800-31918400	Weak transcription	Brain Substantia Nigra	brain
44	chr6:31914800-31918400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:31914800-31918800	Weak transcription	Colonic Mucosa	Colon
46	chr6:31914800-31919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:31914800-31919400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:31914800-31922400	Weak transcription	Stomach Mucosa	stomach
49	chr6:31915000-31918800	Weak transcription	Fetal Brain Female	brain
50	chr6:31915200-31918000	Weak transcription	Gastric	stomach

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