Variant report

Variant	esv3334053
Chromosome Location	chr6:34062974-34067272
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	chr6:34063467..34066322-chr6:34104288..34107163,2	MCF-7	breast:
2	chr6:34062160..34063826-chr6:34065388..34066963,2	K562	blood:
3	chr6:34064664..34066316-chr6:34066393..34068427,2	MCF-7	breast:
4	chr6:34066615..34070590-chr6:34071095..34073197,4	K562	blood:
5	chr6:34065737..34067488-chr6:34074520..34076745,2	K562	blood:
6	chr6:34048142..34050744-chr6:34061539..34063734,2	K562	blood:
7	chr6:34064425..34066131-chr6:34067171..34069691,2	K562	blood:
8	chr6:34062160..34063826-chr6:34065388..34066963,2	K562	blood:
9	chr6:34057102..34058933-chr6:34063126..34065800,2	MCF-7	breast:
10	chr6:34056696..34058351-chr6:34062100..34065093,2	MCF-7	breast:
11	chr6:34065737..34070590-chr6:34071331..34077866,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124493	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151294596	chr6:34062974-34062975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11970029	chr6:34063006-34063007	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569491964	chr6:34063019-34063020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540013823	chr6:34063032-34063033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189901461	chr6:34063041-34063042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543112970	chr6:34063060-34063061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573444751	chr6:34063101-34063102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs937032	chr6:34063139-34063140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140568754	chr6:34063143-34063144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564914916	chr6:34063198-34063199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555389457	chr6:34063228-34063229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144663751	chr6:34063239-34063240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139430818	chr6:34063246-34063247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543937875	chr6:34063269-34063270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138624975	chr6:34063305-34063306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570995236	chr6:34063308-34063309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577419549	chr6:34063321-34063322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2499713	chr6:34063351-34063352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567163563	chr6:34063364-34063365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367703745	chr6:34063388-34063389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548982081	chr6:34063392-34063393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562143531	chr6:34063394-34063395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529240575	chr6:34063396-34063397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551119537	chr6:34063414-34063415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61363471	chr6:34063444-34063445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181648779	chr6:34063452-34063453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141639295	chr6:34063484-34063485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145197080	chr6:34063487-34063488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553664318	chr6:34063531-34063532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556354379	chr6:34063563-34063564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs137918618	chr6:34063591-34063592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114537421	chr6:34063632-34063633	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555770176	chr6:34063641-34063642	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149528312	chr6:34063647-34063648	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537401827	chr6:34063655-34063656	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538637843	chr6:34063661-34063662	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555848429	chr6:34063666-34063667	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553696142	chr6:34063707-34063708	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186217213	chr6:34063730-34063731	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544698478	chr6:34063739-34063740	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367822791	chr6:34063756-34063757	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75036128	chr6:34063757-34063758	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191067387	chr6:34063758-34063759	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542921872	chr6:34063837-34063838	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs181878451	chr6:34063838-34063839	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs529310793	chr6:34063845-34063846	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs544579175	chr6:34063875-34063876	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs144183332	chr6:34063876-34063877	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs115154734	chr6:34063920-34063921	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs372899441	chr6:34063950-34063951	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34025000-34101800	Weak transcription	Right Atrium	heart
2	chr6:34027400-34066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:34045800-34065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:34051400-34089000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:34058800-34066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:34060600-34063800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:34060800-34063400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:34062400-34063000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:34062400-34064800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:34062800-34063200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:34062800-34063400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:34063000-34063400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:34063200-34063400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:34063200-34064600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:34063400-34063600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:34063400-34064200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:34063400-34065000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:34063400-34067600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:34063600-34064000	Enhancers	Gastric	stomach
20	chr6:34063600-34068600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:34063800-34064000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:34063800-34064400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:34063800-34064800	Enhancers	Brain Anterior Caudate	brain
24	chr6:34063800-34065400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr6:34064200-34064800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:34064400-34066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:34064600-34064800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:34064600-34064800	Bivalent Enhancer	Fetal Brain Male	brain
29	chr6:34064600-34066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:34064800-34066000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:34064800-34066400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:34065000-34065400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:34065000-34065400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:34065000-34066200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:34065400-34066200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:34065400-34067000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:34066000-34067000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:34066200-34066400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:34066200-34066400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:34066200-34067200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:34066200-34067400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:34066200-34067600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:34066400-34066600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:34066400-34066600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:34066400-34066800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr6:34066400-34067000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:34066600-34067000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:34066600-34069200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:34066800-34067200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:34066800-34067800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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