Variant report

Variant	esv3474022
Chromosome Location	chr6:56915676-56916546
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	chr6:56913994..56915707-chr6:57036966..57038653,2	K562	blood:
2	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
3	chr6:56825122..56826633-chr6:56914497..56917347,2	K562	blood:
4	chr6:56911424..56913498-chr6:56915696..56917760,2	K562	blood:
5	chr6:56916177..56920569-chr6:56928731..56932543,4	K562	blood:
6	chr6:56914118..56915699-chr6:56999791..57001754,2	K562	blood:
7	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
8	chr6:56913918..56916785-chr6:56951953..56954824,2	K562	blood:
9	chr6:56916004..56918245-chr6:56961868..56964513,2	K562	blood:
10	chr6:56818841..56821468-chr6:56915321..56916838,2	K562	blood:
11	chr6:56818139..56821973-chr6:56914159..56916532,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112200	chromatin interactions
ENSG00000226803	chromatin interactions
ENSG00000168116	chromatin interactions
ENSG00000151917	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000112208	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377705001	chr6:56915681-56915682	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs11965260	chr6:56915682-56915683	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs11965276	chr6:56915703-56915704	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs569545709	chr6:56915747-56915748	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs553801982	chr6:56915755-56915756	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs138314998	chr6:56915764-56915765	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs184720335	chr6:56915766-56915767	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs530595852	chr6:56915768-56915769	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs576498652	chr6:56915793-56915794	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs543934558	chr6:56915794-56915795	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs538409792	chr6:56915797-56915798	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs565338167	chr6:56915799-56915800	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs577390214	chr6:56915801-56915802	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs541640243	chr6:56915802-56915803	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs559679134	chr6:56915803-56915804	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs369035696	chr6:56915816-56915817	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs548470012	chr6:56915833-56915834	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs560555485	chr6:56915957-56915958	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs531169934	chr6:56915979-56915980	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs74479227	chr6:56916031-56916032	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs77780128	chr6:56916032-56916033	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs62415861	chr6:56916081-56916082	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142894234	chr6:56916091-56916092	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs145994997	chr6:56916114-56916115	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs369684685	chr6:56916229-56916230	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs547601440	chr6:56916285-56916286	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs534324085	chr6:56916294-56916295	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs111295121	chr6:56916373-56916374	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs536595673	chr6:56916403-56916404	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs554856227	chr6:56916404-56916405	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs554199424	chr6:56916435-56916436	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs570074069	chr6:56916449-56916450	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs139930763	chr6:56916450-56916451	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs558660171	chr6:56916456-56916457	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs577303170	chr6:56916459-56916460	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs541156863	chr6:56916468-56916469	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs553578421	chr6:56916488-56916489	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs141314416	chr6:56916498-56916499	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs542129100	chr6:56916529-56916530	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56911600-56916400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:56911600-56916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:56911600-56920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:56911600-56920800	Weak transcription	Aorta	Aorta
5	chr6:56911600-56925000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:56911600-56935200	Weak transcription	Gastric	stomach
7	chr6:56911600-56939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:56911800-56915800	Weak transcription	Lung	lung
9	chr6:56911800-56916400	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:56911800-56916400	Weak transcription	Pancreas	Pancrea
11	chr6:56911800-56916400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:56911800-56922200	Weak transcription	Right Ventricle	heart
13	chr6:56911800-56924200	Weak transcription	Colonic Mucosa	Colon
14	chr6:56911800-56930800	Weak transcription	Psoas Muscle	Psoas
15	chr6:56911800-56934200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:56911800-56936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:56911800-56943000	Weak transcription	Esophagus	oesophagus
18	chr6:56913000-56916400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:56913000-56916400	Weak transcription	Spleen	Spleen
20	chr6:56913200-56916400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:56913200-56916400	Weak transcription	Adipose Nuclei	Adipose
22	chr6:56913400-56916400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:56913400-56921400	Strong transcription	HSMM	muscle
24	chr6:56913400-56924400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:56913400-56940600	Weak transcription	Brain Substantia Nigra	brain
26	chr6:56913600-56916200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:56913600-56916200	Weak transcription	Ovary	ovary
28	chr6:56913600-56916400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:56913600-56916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:56913600-56916800	Strong transcription	A549	lung
31	chr6:56913600-56917600	Weak transcription	Brain Angular Gyrus	brain
32	chr6:56913600-56919200	Weak transcription	Fetal Heart	heart
33	chr6:56913600-56920800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:56913600-56921600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:56913600-56921800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:56913600-56924600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:56913600-56925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:56913600-56926600	Weak transcription	Small Intestine	intestine
39	chr6:56913600-56931600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:56913600-56934000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:56913600-56941600	Weak transcription	Brain Anterior Caudate	brain
42	chr6:56913800-56918200	Weak transcription	NHLF	lung
43	chr6:56913800-56920600	Weak transcription	NHEK	skin
44	chr6:56913800-56928000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr6:56913800-56930600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr6:56914000-56919000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:56914000-56934600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:56914200-56916200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:56914200-56916400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:56914200-56920800	Strong transcription	HMEC	breast

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