Variant report

Variant	esv3343209
Chromosome Location	chr6:36663774-36668072
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:36658383..36660114-chr6:36663933..36665549,2	MCF-7	breast:
2	chr6:36658841..36660500-chr6:36665313..36667930,3	MCF-7	breast:
3	chr6:36664831..36667181-chr6:36668098..36669647,2	MCF-7	breast:
4	chr6:36644113..36646429-chr6:36664735..36667230,2	K562	blood:
5	chr6:36650715..36656032-chr6:36664945..36667924,5	MCF-7	breast:
6	chr6:36665939..36668161-chr6:36669239..36671316,2	MCF-7	breast:
7	chr6:36662298..36665035-chr6:36665168..36667578,2	MCF-7	breast:
8	chr6:36647044..36648855-chr6:36663270..36664993,2	MCF-7	breast:
9	chr6:36662298..36665035-chr6:36665168..36667578,2	MCF-7	breast:
10	chr6:36561573..36563528-chr6:36666285..36668118,2	K562	blood:
11	chr6:36650062..36652279-chr6:36667260..36670117,2	MCF-7	breast:
12	chr6:36572659..36575634-chr6:36662126..36664637,2	K562	blood:
13	chr6:36650057..36652668-chr6:36663338..36666266,2	K562	blood:
14	chr6:36560848..36563528-chr6:36666618..36669519,2	K562	blood:
15	chr6:36576769..36579207-chr6:36667077..36668814,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112081	chromatin interactions
ENSG00000124762	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs138958669	chr6:36663816-36663817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140955463	chr6:36663881-36663882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75936099	chr6:36663914-36663915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35338652	chr6:36663920-36663921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181937596	chr6:36663968-36663969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554733282	chr6:36664000-36664001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571578528	chr6:36664005-36664006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199787454	chr6:36664116-36664117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576200972	chr6:36664119-36664120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59786887	chr6:36664123-36664124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113463370	chr6:36664126-36664127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200382152	chr6:36664127-36664128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201516898	chr6:36664128-36664129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199636623	chr6:36664130-36664131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200662300	chr6:36664131-36664132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533707447	chr6:36664132-36664133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555376850	chr6:36664134-36664135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138422468	chr6:36664149-36664150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57090511	chr6:36664151-36664152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74865188	chr6:36664152-36664153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79893021	chr6:36664166-36664167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545655125	chr6:36664185-36664186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545791314	chr6:36664230-36664231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560537592	chr6:36664241-36664242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373211083	chr6:36664256-36664257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9394372	chr6:36664280-36664281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572891008	chr6:36664298-36664299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370453350	chr6:36664316-36664317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578133299	chr6:36664340-36664341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567471336	chr6:36664359-36664360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373703835	chr6:36664361-36664362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs202012736	chr6:36664362-36664363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35332032	chr6:36664364-36664365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112642485	chr6:36664366-36664367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185082252	chr6:36664374-36664375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556366457	chr6:36664385-36664386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531684974	chr6:36664386-36664387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59257390	chr6:36664388-36664389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs58228337	chr6:36664389-36664390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538570870	chr6:36664392-36664393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185400266	chr6:36664393-36664394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373630593	chr6:36664398-36664399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565103232	chr6:36664401-36664402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374084970	chr6:36664406-36664407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59962212	chr6:36664419-36664420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58403780	chr6:36664423-36664424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374031134	chr6:36664424-36664425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536496708	chr6:36664425-36664426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554794706	chr6:36664427-36664428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59461558	chr6:36664429-36664430	Weak transcription Enhancers	n/a	n/a	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
Ovarian cancer	21720365	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36655000-36672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:36655200-36669400	Weak transcription	Gastric	stomach
3	chr6:36656200-36665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:36659800-36665800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:36660600-36666400	Enhancers	Primary B cells from cord blood	blood
6	chr6:36660800-36665200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:36660800-36665200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:36660800-36665200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:36660800-36666800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:36661000-36665200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:36661000-36667000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:36661200-36664000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:36661200-36664000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:36661200-36664600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:36661200-36666000	Weak transcription	Stomach Mucosa	stomach
16	chr6:36661200-36668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:36661400-36664600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:36661400-36665200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:36661400-36665200	Weak transcription	Esophagus	oesophagus
20	chr6:36661400-36665200	Weak transcription	Spleen	Spleen
21	chr6:36661400-36696400	Weak transcription	Right Atrium	heart
22	chr6:36663200-36666400	Weak transcription	Fetal Heart	heart
23	chr6:36663600-36664200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:36664000-36665200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:36664000-36665600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:36664200-36664800	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:36664600-36665200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr6:36664600-36665600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:36664800-36668600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:36665200-36665400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:36665200-36665400	ZNF genes & repeats	Esophagus	oesophagus
32	chr6:36665200-36665400	Enhancers	Spleen	Spleen
33	chr6:36665200-36665600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:36665200-36666000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:36665200-36666600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr6:36665200-36667000	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:36665200-36667000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:36665200-36667000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:36665200-36667800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr6:36665400-36666200	Weak transcription	Esophagus	oesophagus
41	chr6:36665400-36669400	Weak transcription	Spleen	Spleen
42	chr6:36665600-36666000	Enhancers	Fetal Thymus	thymus
43	chr6:36665600-36666200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:36665600-36666600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr6:36665600-36666600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:36665600-36667000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:36665800-36666200	Active TSS	Dnd41	blood
48	chr6:36665800-36667800	Enhancers	Fetal Intestine Small	intestine
49	chr6:36666000-36667200	Enhancers	Stomach Mucosa	stomach
50	chr6:36666000-36667800	Enhancers	Fetal Intestine Large	intestine

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