Variant report

Variant	esv3340429
Chromosome Location	chr6:34002424-34004922
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33995413..33997686-chr6:34000542..34003138,2	K562	blood:
2	chr6:34001507..34003993-chr6:34004424..34006060,2	K562	blood:
3	chr6:34000675..34003589-chr6:34005786..34007935,2	MCF-7	breast:
4	chr6:34002105..34003797-chr6:34007506..34009026,2	K562	blood:
5	chr6:34002550..34004204-chr6:34023521..34025656,2	K562	blood:
6	chr6:33997116..33999259-chr6:34004517..34006268,2	MCF-7	breast:
7	chr6:34001967..34003797-chr6:34007437..34009006,2	K562	blood:
8	chr6:34001507..34003993-chr6:34004424..34006060,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124493	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs532343215	chr6:34002428-34002429	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs3778056	chr6:34002562-34002563	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35907281	chr6:34002566-34002567	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557961052	chr6:34002597-34002598	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs3778057	chr6:34002598-34002599	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534925296	chr6:34002620-34002621	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540534842	chr6:34002644-34002645	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561793303	chr6:34002649-34002650	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574889582	chr6:34002668-34002669	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542290866	chr6:34002669-34002670	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183191280	chr6:34002687-34002688	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533452457	chr6:34002690-34002691	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551843368	chr6:34002720-34002721	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552367372	chr6:34002724-34002725	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564719072	chr6:34002733-34002734	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528637353	chr6:34002768-34002769	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547275784	chr6:34002792-34002793	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535106285	chr6:34002840-34002841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372524011	chr6:34002841-34002842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs902196	chr6:34002842-34002843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs902197	chr6:34002846-34002847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138672597	chr6:34002878-34002879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568493902	chr6:34002879-34002880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549284458	chr6:34002919-34002920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs902198	chr6:34002922-34002923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560458238	chr6:34002926-34002927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372882008	chr6:34002939-34002940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566666337	chr6:34002979-34002980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533699776	chr6:34002985-34002986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555595750	chr6:34003026-34003027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574024582	chr6:34003034-34003035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142845039	chr6:34003036-34003037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549700643	chr6:34003087-34003088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571058191	chr6:34003089-34003090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113135129	chr6:34003090-34003091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200647635	chr6:34003104-34003105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201315724	chr6:34003105-34003106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143610457	chr6:34003143-34003144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564378900	chr6:34003152-34003153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528583593	chr6:34003158-34003159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540510830	chr6:34003164-34003165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561933709	chr6:34003178-34003179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529573389	chr6:34003192-34003193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550836949	chr6:34003247-34003248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541863890	chr6:34003250-34003251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200405963	chr6:34003273-34003274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568530673	chr6:34003288-34003289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201245031	chr6:34003292-34003293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551456506	chr6:34003310-34003311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34906910	chr6:34003314-34003315	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33984000-34010200	Weak transcription	Brain Anterior Caudate	brain
2	chr6:33984400-34023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33986200-34009600	Weak transcription	Right Atrium	heart
4	chr6:33988000-34013600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:33991000-34003400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:33994400-34013000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:33998400-34003000	Enhancers	Fetal Thymus	thymus
8	chr6:34000000-34003800	Weak transcription	GM12878-XiMat	blood
9	chr6:34000200-34003400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:34000200-34016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:34001000-34003400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:34001000-34003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:34002200-34002600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:34002200-34002800	ZNF genes & repeats	Spleen	Spleen
15	chr6:34002600-34003600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:34002800-34027000	Weak transcription	Spleen	Spleen
17	chr6:34003400-34003800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:34003400-34004200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:34003400-34004400	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr6:34003600-34003800	Enhancers	Esophagus	oesophagus
21	chr6:34003600-34004000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:34003600-34004400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:34003800-34004000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:34003800-34004000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr6:34003800-34004200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:34003800-34004400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:34003800-34006600	Enhancers	GM12878-XiMat	blood
28	chr6:34004000-34013400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:34004200-34004400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:34004200-34013400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:34004400-34008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:34004400-34011000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:34004400-34013400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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