Variant report

Variant	esv990009
Chromosome Location	chr6:34049768-34057654
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34036944..34039702-chr6:34055859..34058434,2	MCF-7	breast:
2	chr6:34054860..34057739-chr6:34078250..34080153,2	K562	blood:
3	chr6:34050847..34053131-chr6:34057626..34059685,2	K562	blood:
4	chr6:34053125..34055398-chr6:34055547..34057394,2	MCF-7	breast:
5	chr6:34030201..34031924-chr6:34051534..34054299,3	K562	blood:
6	chr6:34056696..34058351-chr6:34062100..34065093,2	MCF-7	breast:
7	chr6:34044767..34048120-chr6:34049441..34052801,3	K562	blood:
8	chr6:34021885..34024732-chr6:34051726..34053954,2	MCF-7	breast:
9	chr6:34042850..34045012-chr6:34054225..34056709,2	K562	blood:
10	chr6:34056980..34058619-chr6:34070620..34072222,2	K562	blood:
11	chr6:34053125..34055398-chr6:34055547..34057394,2	MCF-7	breast:
12	chr6:34057102..34058933-chr6:34063126..34065800,2	MCF-7	breast:
13	chr6:34048142..34050744-chr6:34061539..34063734,2	K562	blood:
14	chr6:34042273..34043918-chr6:34048694..34051267,2	K562	blood:
15	chr6:34050847..34053131-chr6:34057626..34059685,2	K562	blood:
16	chr6:34046290..34048396-chr6:34049554..34051371,2	K562	blood:
17	chr6:33807979..33810907-chr6:34049317..34052125,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221779	chromatin interactions
ENSG00000124493	chromatin interactions

Extended variants
information (count: 315 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570199297	chr6:34049789-34049790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530141322	chr6:34049801-34049802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116372808	chr6:34049812-34049813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569734435	chr6:34049819-34049820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566651798	chr6:34049823-34049824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71542486	chr6:34049831-34049832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7753387	chr6:34049842-34049843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7753682	chr6:34049861-34049862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374869069	chr6:34049872-34049873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369263665	chr6:34049873-34049874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9380402	chr6:34049902-34049903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150702093	chr6:34049903-34049904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535426270	chr6:34049928-34049929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183980398	chr6:34050084-34050085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139860043	chr6:34050102-34050103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78535518	chr6:34050126-34050127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552477491	chr6:34050147-34050148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188921605	chr6:34050169-34050170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143263640	chr6:34050190-34050191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540953207	chr6:34050229-34050230	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs544320553	chr6:34050246-34050247	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs562353791	chr6:34050258-34050259	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs192697279	chr6:34050262-34050263	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs182763918	chr6:34050272-34050273	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs562604911	chr6:34050298-34050299	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs186668304	chr6:34050349-34050350	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs534865493	chr6:34050353-34050354	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147164699	chr6:34050373-34050374	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs140361276	chr6:34050403-34050404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs75891694	chr6:34050404-34050405	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs145441333	chr6:34050412-34050413	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs191517136	chr6:34050417-34050418	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs148411466	chr6:34050497-34050498	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs142666840	chr6:34050503-34050504	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs184045891	chr6:34050514-34050515	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs374167834	chr6:34050516-34050517	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs2101544	chr6:34050537-34050538	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35964723	chr6:34050558-34050559	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs80101262	chr6:34050561-34050562	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs575232535	chr6:34050580-34050581	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs188826862	chr6:34050599-34050600	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112100453	chr6:34050600-34050601	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs192957246	chr6:34050620-34050621	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs185620848	chr6:34050633-34050634	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs574335853	chr6:34050657-34050658	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs77451337	chr6:34050673-34050674	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs190541743	chr6:34050674-34050675	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs545475979	chr6:34050707-34050708	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs151022111	chr6:34050778-34050779	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs115016760	chr6:34050829-34050830	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:67 , 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	chr6:34044800-34052200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:34045200-34050800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:34045800-34065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:34046600-34050200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:34046800-34050400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:34047000-34050600	Weak transcription	Fetal Brain Female	brain
9	chr6:34047200-34050200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:34047200-34050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:34048800-34053000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:34049400-34050200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:34049400-34052400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:34050200-34050400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr6:34050200-34050800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr6:34050200-34051000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:34050200-34051400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:34050200-34051600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:34050200-34052600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr6:34050200-34053400	Enhancers	Fetal Brain Male	brain
21	chr6:34050400-34050600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:34050400-34051000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:34050400-34051000	Bivalent Enhancer	HSMMtube	muscle
24	chr6:34050400-34051200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr6:34050400-34051400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:34050400-34051800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:34050400-34053000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:34050600-34050800	Enhancers	Brain Anterior Caudate	brain
29	chr6:34050600-34051200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:34050600-34051400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:34050600-34051800	Enhancers	Fetal Brain Female	brain
32	chr6:34050800-34051000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr6:34050800-34051200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:34050800-34051400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:34051000-34051400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:34051200-34051400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:34051200-34051400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr6:34051200-34060200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:34051400-34051600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:34051400-34052400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:34051400-34089000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:34051600-34051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:34051600-34052200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr6:34051800-34052200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:34052200-34052600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:34052200-34060400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:34052400-34052600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:34052400-34052600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:34052600-34062400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:34053000-34054400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links