Variant report

Variant	esv1797072
Chromosome Location	chr6:166766142-166782143
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:166754928..166757312-chr6:166776531..166780402,3	K562	blood:
2	chr6:166766476..166768497-chr6:166772970..166774589,2	K562	blood:
3	chr6:166763328..166766253-chr6:166766357..166769489,3	K562	blood:
4	chr6:166766476..166768497-chr6:166772970..166774589,2	K562	blood:
5	chr6:166763853..166766786-chr6:166768028..166769923,4	K562	blood:
6	chr6:166755930..166757619-chr6:166781019..166784045,3	MCF-7	breast:
7	chr6:166751783..166754110-chr6:166780871..166783189,2	K562	blood:
8	chr6:166771550..166776527-chr6:166791729..166798170,6	K562	blood:
9	chr6:166763853..166766786-chr6:166768028..166769923,4	K562	blood:
10	chr6:166763328..166766253-chr6:166766357..166769489,3	K562	blood:
11	chr6:166751664..166755250-chr6:166772904..166776274,3	K562	blood:
12	chr6:166766503..166770484-chr6:166795800..166799342,3	K562	blood:
13	chr6:166765094..166767383-chr6:166770305..166772317,2	K562	blood:
14	chr6:166764431..166767383-chr6:166770305..166772184,2	K562	blood:
15	chr6:166756008..166757539-chr6:166779896..166782312,2	MCF-7	breast:
16	chr6:166764431..166767383-chr6:166770305..166772184,2	K562	blood:
17	chr6:166744531..166747958-chr6:166778201..166781775,3	K562	blood:
18	chr6:166780289..166781935-chr6:166782190..166784893,2	K562	blood:
19	chr6:166765094..166767383-chr6:166770305..166772317,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261420	chromatin interactions
ENSG00000060762	chromatin interactions
ENSG00000198818	chromatin interactions

Extended variants
information (count: 582 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6902813	chr6:166766142-166766143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112097336	chr6:166766179-166766180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113889580	chr6:166766211-166766212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573503508	chr6:166766215-166766216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182716566	chr6:166766236-166766237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187327659	chr6:166766319-166766320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574276419	chr6:166766347-166766348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374028785	chr6:166766416-166766417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73032507	chr6:166766492-166766493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141094755	chr6:166766509-166766510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530484277	chr6:166766538-166766539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545802002	chr6:166766589-166766590	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558193083	chr6:166766691-166766692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563895798	chr6:166766698-166766699	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576471990	chr6:166766738-166766739	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs117351628	chr6:166766741-166766742	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567951954	chr6:166766749-166766750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529050441	chr6:166766763-166766764	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114380563	chr6:166766796-166766797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191780577	chr6:166766812-166766813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75700683	chr6:166766813-166766814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111972922	chr6:166766819-166766820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558161611	chr6:166766864-166766865	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550497396	chr6:166766878-166766879	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566738706	chr6:166766892-166766893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368210070	chr6:166766949-166766950	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556094427	chr6:166766950-166766951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116876529	chr6:166767011-166767012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544830373	chr6:166767070-166767071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556763005	chr6:166767102-166767103	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555815087	chr6:166767105-166767106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113377273	chr6:166767129-166767130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545557257	chr6:166767161-166767162	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs564140380	chr6:166767222-166767223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs183903395	chr6:166767276-166767277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540182233	chr6:166767285-166767286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs561652123	chr6:166767301-166767302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs138881903	chr6:166767302-166767303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550376429	chr6:166767324-166767325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142065736	chr6:166767325-166767326	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375623631	chr6:166767334-166767335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554043931	chr6:166767354-166767355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs1997661	chr6:166767383-166767384	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6910664	chr6:166767393-166767394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566904553	chr6:166767434-166767435	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113877432	chr6:166767442-166767443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549360549	chr6:166767443-166767444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs55942315	chr6:166767445-166767446	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs55637167	chr6:166767451-166767452	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs56290001	chr6:166767507-166767508	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166757000-166779200	Weak transcription	Right Atrium	heart
2	chr6:166765200-166766600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:166765200-166767200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:166765400-166767200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:166765400-166767400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:166765600-166773800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:166765600-166776400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:166765600-166777000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:166765800-166766400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:166765800-166766400	Enhancers	Liver	Liver
11	chr6:166765800-166766400	Enhancers	Fetal Intestine Large	intestine
12	chr6:166765800-166766600	Enhancers	Fetal Intestine Small	intestine
13	chr6:166765800-166766800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:166765800-166766800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:166765800-166768400	Enhancers	HepG2	liver
16	chr6:166765800-166776200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:166765800-166776200	Weak transcription	Brain Substantia Nigra	brain
18	chr6:166765800-166776600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:166765800-166778000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:166766000-166773800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:166766600-166766800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:166766800-166774600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:166766800-166776400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:166767200-166774000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:166768200-166768400	Enhancers	Lung	lung
26	chr6:166768400-166769200	Weak transcription	Lung	lung
27	chr6:166768400-166773200	Weak transcription	HepG2	liver
28	chr6:166768800-166769200	Weak transcription	Pancreas	Pancrea
29	chr6:166768800-166774600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:166769000-166769200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:166769000-166769200	Weak transcription	Gastric	stomach
32	chr6:166769200-166769400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:166769200-166769400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:166769200-166769400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:166769200-166769400	Enhancers	Adipose Nuclei	Adipose
36	chr6:166769200-166769400	Enhancers	Placenta	Placenta
37	chr6:166769200-166769400	Enhancers	Gastric	stomach
38	chr6:166769200-166769400	Bivalent Enhancer	Lung	lung
39	chr6:166769200-166769400	ZNF genes & repeats	Pancreas	Pancrea
40	chr6:166769400-166769800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:166769400-166774000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:166769400-166774200	Weak transcription	Lung	lung
43	chr6:166769400-166775600	Weak transcription	Pancreas	Pancrea
44	chr6:166769400-166776600	Weak transcription	Gastric	stomach
45	chr6:166769400-166777800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:166770200-166776200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:166771000-166776600	Weak transcription	GM12878-XiMat	blood
48	chr6:166771400-166776600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:166771600-166776400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:166771800-166772000	Active TSS	Sigmoid Colon	Sigmoid Colon

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