Variant report

Variant	esv3328952
Chromosome Location	chr6:35935524-35937622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:35936560-35936710	GM12864	blood:	n/a	n/a
2	POLR2A	chr6:35936043-35936305	K562	blood:	n/a	n/a
3	POLR2A	chr6:35936729-35937275	K562	blood:	n/a	n/a
4	POLR2A	chr6:35935133-35935579	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35933041..35935936-chr6:35936757..35938971,2	K562	blood:
2	chr6:35933591..35936087-chr6:35937876..35939596,2	K562	blood:

Variant related genes	Relation type
SLC26A8	TF binding region
ENSG00000112053	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574461618	chr6:35935565-35935566	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138077345	chr6:35935568-35935569	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368263659	chr6:35935579-35935580	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60068395	chr6:35935627-35935628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561467176	chr6:35935648-35935649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555829020	chr6:35935665-35935666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149517193	chr6:35935669-35935670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190223261	chr6:35935709-35935710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565420856	chr6:35935745-35935746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532574107	chr6:35935803-35935804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547492400	chr6:35935808-35935809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183169242	chr6:35935834-35935835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538035633	chr6:35935864-35935865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558046181	chr6:35935869-35935870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147197896	chr6:35935879-35935880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545399580	chr6:35935897-35935898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186026461	chr6:35935915-35935916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138791675	chr6:35935944-35935945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552655529	chr6:35935979-35935980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374605687	chr6:35936002-35936003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143119350	chr6:35936026-35936027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541605844	chr6:35936038-35936039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147470940	chr6:35936074-35936075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561800030	chr6:35936111-35936112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558452063	chr6:35936116-35936117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192057575	chr6:35936117-35936118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184150444	chr6:35936135-35936136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552713100	chr6:35936136-35936137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188651717	chr6:35936164-35936165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544385054	chr6:35936181-35936182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541952435	chr6:35936201-35936202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148520377	chr6:35936224-35936225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142786846	chr6:35936268-35936269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192734872	chr6:35936308-35936309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78753473	chr6:35936311-35936312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368624878	chr6:35936327-35936328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139550590	chr6:35936347-35936348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372463300	chr6:35936383-35936384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559175264	chr6:35936384-35936385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62403679	chr6:35936386-35936387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56690879	chr6:35936387-35936388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11752664	chr6:35936388-35936389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67508944	chr6:35936400-35936401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565444192	chr6:35936410-35936411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532717799	chr6:35936412-35936413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55987809	chr6:35936420-35936421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374306437	chr6:35936428-35936429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548023660	chr6:35936466-35936467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559497146	chr6:35936472-35936473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530028531	chr6:35936476-35936477	Weak transcription Enhancers	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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35923200-35959600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:35934400-35936000	Enhancers	Fetal Intestine Large	intestine
3	chr6:35934600-35937400	Enhancers	Fetal Brain Male	brain
4	chr6:35934800-35935600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:35934800-35935600	Enhancers	Pancreas	Pancrea
6	chr6:35934800-35935800	Enhancers	Fetal Intestine Small	intestine
7	chr6:35935000-35935600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:35935000-35935600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:35935000-35935600	Enhancers	Liver	Liver
10	chr6:35935000-35935600	Enhancers	Fetal Kidney	kidney
11	chr6:35935000-35935600	Flanking Active TSS	HepG2	liver
12	chr6:35935200-35935600	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:35935200-35935600	Enhancers	Fetal Brain Female	brain
14	chr6:35935400-35940000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:35935400-35940000	Weak transcription	Stomach Mucosa	stomach
16	chr6:35935600-35936200	Enhancers	HepG2	liver
17	chr6:35935600-35937600	Weak transcription	Fetal Brain Female	brain
18	chr6:35935600-35938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:35935600-35940200	Weak transcription	Liver	Liver
20	chr6:35935600-35941000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:35935600-35941400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:35935800-35940400	Weak transcription	Fetal Intestine Small	intestine
23	chr6:35936000-35940400	Weak transcription	Fetal Intestine Large	intestine
24	chr6:35936200-35939800	Weak transcription	HepG2	liver
25	chr6:35937400-35937600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:35937400-35937600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:35937400-35937800	Weak transcription	Fetal Brain Male	brain
28	chr6:35937400-35937800	Enhancers	Osteobl	bone
29	chr6:35937600-35938200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:35937600-35938400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:35937600-35938400	Enhancers	Fetal Brain Female	brain

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