Variant report

Variant	esv3448277
Chromosome Location	chr6:36625374-36628672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36623725..36625807-chr6:36629087..36632013,3	K562	blood:
2	chr6:36584907..36586917-chr6:36625809..36627593,2	K562	blood:
3	chr6:36627657..36630518-chr6:36646219..36647988,2	K562	blood:
4	chr6:36619714..36621420-chr6:36622788..36625577,3	K562	blood:
5	chr6:36589619..36593631-chr6:36625496..36627977,3	K562	blood:
6	chr6:36615853..36625488-chr6:36645022..36649146,15	MCF-7	breast:
7	chr6:36560914..36563599-chr6:36627068..36629393,2	K562	blood:
8	chr6:36618015..36619715-chr6:36627253..36629685,2	MCF-7	breast:
9	chr6:36626473..36628728-chr6:36691772..36694267,2	MCF-7	breast:
10	chr6:36617326..36619244-chr6:36622904..36626084,3	K562	blood:
11	chr6:36625867..36628028-chr6:36633354..36635356,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263894	chromatin interactions
ENSG00000124762	chromatin interactions
ENSG00000112081	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11969445	chr6:36625382-36625383	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187651342	chr6:36625442-36625443	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142824144	chr6:36625503-36625504	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs151032955	chr6:36625543-36625544	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9470366	chr6:36625562-36625563	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
6	rs568004497	chr6:36625576-36625577	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192516922	chr6:36625578-36625579	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548601800	chr6:36625642-36625643	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548693300	chr6:36625656-36625657	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570299340	chr6:36625693-36625694	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141120714	chr6:36625696-36625697	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375861281	chr6:36625796-36625797	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111277220	chr6:36625850-36625851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114792311	chr6:36625860-36625861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553394497	chr6:36625881-36625882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184606678	chr6:36625905-36625906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs151215849	chr6:36625915-36625916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144521004	chr6:36625998-36625999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574611461	chr6:36626048-36626049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542178873	chr6:36626053-36626054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563452128	chr6:36626067-36626068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6936598	chr6:36626096-36626097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138991055	chr6:36626189-36626190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564319096	chr6:36626216-36626217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528286400	chr6:36626231-36626232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373129389	chr6:36626297-36626298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561773437	chr6:36626306-36626307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140669452	chr6:36626309-36626310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550513706	chr6:36626311-36626312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6936993	chr6:36626322-36626323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs371457937	chr6:36626325-36626326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114817411	chr6:36626330-36626331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546524677	chr6:36626332-36626333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145762153	chr6:36626488-36626489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138606301	chr6:36626510-36626511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188226501	chr6:36626530-36626531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs180844557	chr6:36626580-36626581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184889345	chr6:36626583-36626584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557353942	chr6:36626622-36626623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575704552	chr6:36626648-36626649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546157941	chr6:36626679-36626680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564331716	chr6:36626734-36626735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573078072	chr6:36626744-36626745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572108868	chr6:36626776-36626777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189835519	chr6:36626792-36626793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540391810	chr6:36626793-36626794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561641202	chr6:36626797-36626798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113140031	chr6:36626802-36626803	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35841470	chr6:36626803-36626804	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543947893	chr6:36626866-36626867	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Autism	20531469	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36611600-36628600	Weak transcription	Right Atrium	heart
2	chr6:36618200-36627400	Weak transcription	Left Ventricle	heart
3	chr6:36619200-36625600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:36619400-36628400	Weak transcription	Adipose Nuclei	Adipose
5	chr6:36620200-36628000	Weak transcription	Colonic Mucosa	Colon
6	chr6:36620200-36628600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:36620400-36626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:36621800-36626000	Enhancers	Thymus	Thymus
9	chr6:36622000-36626200	Enhancers	Fetal Thymus	thymus
10	chr6:36622200-36628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:36622400-36628800	Enhancers	GM12878-XiMat	blood
12	chr6:36623200-36625600	Weak transcription	NH-A	brain
13	chr6:36623200-36628600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:36623400-36625400	Weak transcription	Fetal Intestine Small	intestine
15	chr6:36623400-36625400	Weak transcription	Fetal Stomach	stomach
16	chr6:36623400-36626000	Weak transcription	Fetal Heart	heart
17	chr6:36623400-36628800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:36623600-36626200	Weak transcription	Primary B cells from cord blood	blood
19	chr6:36624600-36627800	Enhancers	Placenta	Placenta
20	chr6:36624600-36628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:36624800-36627400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:36625000-36625600	Enhancers	Fetal Kidney	kidney
23	chr6:36625000-36626200	Enhancers	Fetal Intestine Large	intestine
24	chr6:36625000-36627600	Enhancers	Rectal Smooth Muscle	rectum
25	chr6:36625000-36628000	Enhancers	Osteobl	bone
26	chr6:36625000-36628200	Enhancers	Colon Smooth Muscle	Colon
27	chr6:36625000-36628800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:36625200-36625600	Bivalent Enhancer	HepG2	liver
29	chr6:36625200-36627000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:36625200-36627200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:36625200-36627800	Enhancers	HMEC	breast
32	chr6:36625400-36625800	Enhancers	Fetal Intestine Small	intestine
33	chr6:36625400-36626200	Enhancers	Fetal Stomach	stomach
34	chr6:36625400-36627400	Enhancers	NHEK	skin
35	chr6:36625600-36625800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:36625600-36626400	Enhancers	Primary B cells from peripheral blood	blood
37	chr6:36625600-36626400	Enhancers	NH-A	brain
38	chr6:36625600-36627600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:36625600-36627600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:36625600-36627600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:36625600-36627600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:36625600-36627800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:36625600-36627800	Enhancers	HSMM	muscle
44	chr6:36625600-36628000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:36625600-36628400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:36625600-36628800	Enhancers	NHDF-Ad	bronchial
47	chr6:36625800-36626000	Enhancers	Small Intestine	intestine
48	chr6:36625800-36626400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:36625800-36627400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:36625800-36627800	Enhancers	HSMMtube	muscle

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