Variant report

Variant	esv13626
Chromosome Location	chr6:36640176-36642182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:36641554-36641604	NB4	blood:	n/a
2	chr6:36641554-36641604	GM06990	blood:	n/a
3	chr6:36641554-36641604	HEK293	kidney:	embryo
4	chr6:36641554-36641604	T-47D	breast:	n/a
5	chr6:36641554-36641604	HRCEpiC	kidney:	n/a
6	chr6:36641584-36641634	HCF	heart:	n/a
7	chr6:36641584-36641634	ProgFib	skin:	n/a
8	chr6:36641554-36641604	Hepatocyte	liver:	n/a
9	chr6:36641584-36641634	MCF-7	breast:	n/a
10	chr6:36641554-36641604	HEEpiC	esophagus:	n/a
11	chr6:36641584-36641634	BJ	skin:	n/a
12	chr6:36641584-36641634	SK-N-MC	brain:	n/a
13	chr6:36641554-36641604	RPTEC	kidney:	n/a
14	chr6:36641554-36641604	HepG2	liver:	n/a
15	chr6:36641554-36641604	LNCaP	prostate:	n/a
16	chr6:36641584-36641634	CMK	blood:	n/a
17	chr6:36641554-36641604	PANC-1	pancreas:	n/a
18	chr6:36641554-36641604	ovcar-3	ovarian:	n/a
19	chr6:36641554-36641604	HCPEpiC	choroid plexus:	n/a
20	chr6:36641554-36641604	Caco-2	colon:	n/a
21	chr6:36641584-36641634	AG10803	skin:	n/a
22	chr6:36641584-36641634	NB4	blood:	n/a
23	chr6:36641554-36641604	HAEpiC	amniotic membrane:	n/a
24	chr6:36641554-36641604	HCM	heart:	n/a
25	chr6:36641584-36641634	AG09309	skin:	n/a
26	chr6:36641584-36641634	SK-N-SH	brain:	n/a
27	chr6:36641584-36641634	H1-hESC	embryonic stem cell:	embryo
28	chr6:36641554-36641604	AG04449	skin:	fetal
29	chr6:36641554-36641604	HMEC	breast:	n/a
30	chr6:36641554-36641604	HL-60	blood:	n/a
31	chr6:36641584-36641634	HRE	kidney:	n/a
32	chr6:36641554-36641604	SK-N-MC	brain:	n/a
33	chr6:36641554-36641604	NH-A	brain:	n/a
34	chr6:36641584-36641634	SKMC	muscle:	n/a
35	chr6:36641554-36641604	A549	lung:	n/a
36	chr6:36641554-36641604	HNPCEpiC	eye:	n/a
37	chr6:36641584-36641634	AG04450	lung:	fetal
38	chr6:36641584-36641634	RPTEC	kidney:	n/a
39	chr6:36641584-36641634	GM06990	blood:	n/a
40	chr6:36641554-36641604	HRPEpiC	eye:	n/a
41	chr6:36641584-36641634	T-47D	breast:	n/a
42	chr6:36641584-36641634	AG09319	gingival:	n/a
43	chr6:36641584-36641634	IMR90	lung:	fetal
44	chr6:36641584-36641634	NHBE	bronchial:	n/a
45	chr6:36641554-36641604	SAEC	small airway:	n/a
46	chr6:36641554-36641604	CMK	blood:	n/a
47	chr6:36641584-36641634	HL-60	blood:	n/a
48	chr6:36641554-36641604	GM19239	blood:	n/a
49	chr6:36641554-36641604	MCF10A-Er-Src	breast:	n/a
50	chr6:36641554-36641604	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:
2	chr6:36640651..36642338-chr6:36646391..36648359,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPNE5-3	chr6:36641398-36642903	NR_109836

No data

Variant related genes	Relation type
CDKN1A	CpG island
LAP3P2	CpG island
ENSG00000251864	CpG island
ENSG00000124762	chromatin interactions
ENSG00000263894	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10947620	chr6:36640188-36640189	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539874628	chr6:36640190-36640191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7452626	chr6:36640241-36640242	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs10947621	chr6:36640272-36640273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs187055720	chr6:36640291-36640292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78266800	chr6:36640347-36640348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9349005	chr6:36640368-36640369	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs552656636	chr6:36640388-36640389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570892615	chr6:36640413-36640414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535101589	chr6:36640477-36640478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370760149	chr6:36640478-36640479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374957841	chr6:36640479-36640480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201076768	chr6:36640482-36640483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9380587	chr6:36640483-36640484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201972466	chr6:36640545-36640546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535761288	chr6:36640546-36640547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557248907	chr6:36640566-36640567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540217948	chr6:36640579-36640580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147802096	chr6:36640585-36640586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373385580	chr6:36640642-36640643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528852026	chr6:36640645-36640646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189595910	chr6:36640665-36640666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12174270	chr6:36640669-36640670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180764020	chr6:36640761-36640762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115329323	chr6:36640768-36640769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573259915	chr6:36640772-36640773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376527928	chr6:36640775-36640776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185669000	chr6:36640845-36640846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563796228	chr6:36640868-36640869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7747146	chr6:36640990-36640991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552525551	chr6:36641015-36641016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7764973	chr6:36641036-36641037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145327743	chr6:36641039-36641040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs57135933	chr6:36641068-36641069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs202036321	chr6:36641071-36641072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190079488	chr6:36641094-36641095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6457935	chr6:36641138-36641139	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182399533	chr6:36641144-36641145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141203752	chr6:36641184-36641185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111566184	chr6:36641185-36641186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569089288	chr6:36641208-36641209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6457936	chr6:36641231-36641232	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185887066	chr6:36641257-36641258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567600124	chr6:36641258-36641259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144886311	chr6:36641280-36641281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533650360	chr6:36641373-36641374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564289824	chr6:36641398-36641399	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs149123170	chr6:36641409-36641410	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs370279312	chr6:36641410-36641411	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs191437615	chr6:36641461-36641462	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36631000-36644000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:36633200-36640200	Enhancers	HepG2	liver
3	chr6:36635200-36643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:36635400-36644000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:36635400-36645600	Weak transcription	Small Intestine	intestine
6	chr6:36635600-36644000	Weak transcription	Hela-S3	cervix
7	chr6:36636000-36640800	Enhancers	Fetal Intestine Small	intestine
8	chr6:36636400-36643800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:36636400-36643800	Weak transcription	NH-A	brain
10	chr6:36636800-36641000	Enhancers	Fetal Intestine Large	intestine
11	chr6:36637000-36643800	Weak transcription	Osteobl	bone
12	chr6:36637200-36641600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:36637200-36641600	Weak transcription	GM12878-XiMat	blood
14	chr6:36637200-36643600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:36637200-36643800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:36637200-36643800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:36637200-36643800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:36637200-36643800	Weak transcription	HSMM	muscle
19	chr6:36637400-36642600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:36637800-36642600	Weak transcription	HSMMtube	muscle
21	chr6:36637800-36643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:36637800-36643400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:36637800-36643800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:36637800-36643800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:36638800-36644200	Weak transcription	Ovary	ovary
26	chr6:36639600-36640200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:36639600-36640400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr6:36639800-36640200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:36640000-36643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:36640000-36643800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:36640000-36644000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:36640200-36641600	Weak transcription	Placenta	Placenta
33	chr6:36640200-36642000	Weak transcription	HepG2	liver
34	chr6:36640200-36642400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:36640200-36643800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:36640400-36645600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:36640600-36643200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:36640800-36643800	Weak transcription	Fetal Intestine Small	intestine
39	chr6:36641000-36643800	Weak transcription	Fetal Intestine Large	intestine
40	chr6:36641200-36642400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:36641600-36643000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:36641600-36643800	Enhancers	GM12878-XiMat	blood
43	chr6:36641800-36642000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:36641800-36644000	Enhancers	Fetal Muscle Leg	muscle
45	chr6:36642000-36643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:36642000-36643600	Enhancers	HepG2	liver

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