Variant report

Variant	esv3475117
Chromosome Location	chr6:33725169-33726743
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:33711077..33714000-chr6:33723904..33727038,3	MCF-7	breast:
2	chr6:33712420..33715409-chr6:33723991..33728116,4	MCF-7	breast:
3	chr6:33725418..33728218-chr6:33736581..33739360,2	MCF-7	breast:
4	chr6:33723585..33725981-chr6:33736190..33738429,2	MCF-7	breast:
5	chr6:33724946..33727778-chr6:33732399..33734777,2	MCF-7	breast:
6	chr6:33697291..33699933-chr6:33725185..33727883,2	MCF-7	breast:
7	chr6:33673241..33675350-chr6:33722857..33725675,2	MCF-7	breast:
8	chr6:33724784..33727400-chr6:33728214..33730024,2	MCF-7	breast:
9	chr6:33725421..33728114-chr6:33818801..33821160,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161896	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116721772	chr6:33725184-33725185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9461906	chr6:33725187-33725188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs190895753	chr6:33725189-33725190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182523747	chr6:33725192-33725193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370692977	chr6:33725193-33725194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563122868	chr6:33725295-33725296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185863952	chr6:33725296-33725297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548134395	chr6:33725311-33725312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545466674	chr6:33725348-33725349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563843910	chr6:33725355-33725356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377205889	chr6:33725365-33725366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542981852	chr6:33725391-33725392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs36078506	chr6:33725394-33725395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528233369	chr6:33725396-33725397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74406141	chr6:33725400-33725401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530824809	chr6:33725441-33725442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191209235	chr6:33725450-33725451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368518310	chr6:33725475-33725476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575998929	chr6:33725517-33725518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12211490	chr6:33725528-33725529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs77624353	chr6:33725627-33725628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138154670	chr6:33725638-33725639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537443753	chr6:33725639-33725640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114496411	chr6:33725653-33725654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570947131	chr6:33725682-33725683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182947100	chr6:33725712-33725713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147034955	chr6:33725716-33725717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9469586	chr6:33725784-33725785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12211554	chr6:33725788-33725789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143901986	chr6:33725789-33725790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557254701	chr6:33725814-33725815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547498102	chr6:33725848-33725849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12211565	chr6:33725852-33725853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545405834	chr6:33725862-33725863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111542358	chr6:33725895-33725896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563780857	chr6:33725900-33725901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572603621	chr6:33725921-33725922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535446143	chr6:33725933-33725934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144303882	chr6:33725945-33725946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556874897	chr6:33725983-33725984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576702265	chr6:33726012-33726013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148747584	chr6:33726045-33726046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs70996800	chr6:33726052-33726053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141399102	chr6:33726072-33726073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375939622	chr6:33726131-33726132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371866796	chr6:33726178-33726179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs578232222	chr6:33726227-33726228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562778636	chr6:33726228-33726229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186849313	chr6:33726275-33726276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552601802	chr6:33726375-33726376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
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
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
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
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33715200-33737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33715600-33729400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:33719600-33729000	Weak transcription	Right Atrium	heart
4	chr6:33719800-33727600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:33719800-33729200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:33720200-33728000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:33720200-33730600	Weak transcription	Spleen	Spleen
8	chr6:33720400-33728000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:33720600-33729400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:33720800-33726200	Weak transcription	Fetal Lung	lung
11	chr6:33721000-33727000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:33721000-33729400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:33721200-33728600	Weak transcription	Fetal Thymus	thymus
14	chr6:33722200-33725400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:33723200-33725600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:33723400-33729800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:33723400-33736600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:33723600-33727800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:33723600-33728200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:33723600-33728800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:33723600-33729000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:33724000-33730200	Enhancers	Stomach Mucosa	stomach
23	chr6:33724400-33725200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:33724400-33725200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:33724800-33725200	Enhancers	Stomach Smooth Muscle	stomach
26	chr6:33724800-33725600	Enhancers	Fetal Stomach	stomach
27	chr6:33725000-33725200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:33725000-33725400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:33725000-33726400	Enhancers	Placenta	Placenta
30	chr6:33725000-33728800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:33725200-33726200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:33725200-33729200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:33725200-33729600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:33725200-33729800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:33725400-33725800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:33725400-33726000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:33725400-33726800	Enhancers	Hela-S3	cervix
38	chr6:33725600-33726400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:33725800-33726000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:33726000-33727000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:33726000-33727400	Enhancers	A549	lung
42	chr6:33726000-33727800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:33726000-33731000	Enhancers	Fetal Stomach	stomach
44	chr6:33726200-33729600	Enhancers	Liver	Liver
45	chr6:33726200-33731000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:33726200-33731400	Enhancers	Fetal Lung	lung
47	chr6:33726400-33729200	Weak transcription	Placenta	Placenta
48	chr6:33726400-33738200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:33726600-33727000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:33726600-33727200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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