Variant report

Variant	esv3335534
Chromosome Location	chr6:38646782-38648720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38640160..38642100-chr6:38645505..38647070,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201993431	chr6:38646796-38646797	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57574035	chr6:38646797-38646798	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375414591	chr6:38646798-38646799	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2801807	chr6:38646801-38646802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2801808	chr6:38646802-38646803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201394406	chr6:38646803-38646804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144510884	chr6:38646808-38646809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186384277	chr6:38646855-38646856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77631310	chr6:38646882-38646883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377597386	chr6:38646902-38646903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556262457	chr6:38646954-38646955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576418375	chr6:38646983-38646984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6935120	chr6:38647020-38647021	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369823711	chr6:38647026-38647027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565381111	chr6:38647055-38647056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144368812	chr6:38647061-38647062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540418869	chr6:38647072-38647073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550434230	chr6:38647078-38647079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529178169	chr6:38647123-38647124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549290870	chr6:38647150-38647151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568723541	chr6:38647186-38647187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531357670	chr6:38647208-38647209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551145078	chr6:38647231-38647232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570356409	chr6:38647256-38647257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2472006	chr6:38647281-38647282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2472005	chr6:38647284-38647285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537153223	chr6:38647289-38647290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2490022	chr6:38647291-38647292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13216215	chr6:38647293-38647294	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190985242	chr6:38647294-38647295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536530033	chr6:38647313-38647314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556832190	chr6:38647319-38647320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2490023	chr6:38647359-38647360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576331705	chr6:38647364-38647365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2472004	chr6:38647371-38647372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146613916	chr6:38647426-38647427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558721233	chr6:38647428-38647429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4711555	chr6:38647471-38647472	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142478080	chr6:38647523-38647524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58819710	chr6:38647570-38647571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560370339	chr6:38647588-38647589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529113600	chr6:38647634-38647635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565441025	chr6:38647645-38647646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183541528	chr6:38647722-38647723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532851596	chr6:38647724-38647725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34971977	chr6:38647810-38647811	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12214815	chr6:38647852-38647853	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs551350064	chr6:38647905-38647906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536000832	chr6:38647940-38647941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564587591	chr6:38647971-38647972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38612800-38648400	Weak transcription	Brain Anterior Caudate	brain
2	chr6:38612800-38652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:38614800-38654800	Weak transcription	Brain Angular Gyrus	brain
4	chr6:38615200-38649400	Weak transcription	Fetal Brain Male	brain
5	chr6:38640000-38649400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:38640000-38649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:38640000-38652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:38640200-38650200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:38641000-38654800	Weak transcription	Fetal Heart	heart
10	chr6:38641200-38670000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:38641400-38649400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:38641600-38668000	Weak transcription	NHLF	lung
13	chr6:38641800-38649400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:38641800-38650600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:38641800-38651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:38641800-38654800	Weak transcription	Pancreas	Pancrea
17	chr6:38642000-38648400	Weak transcription	Small Intestine	intestine
18	chr6:38642000-38650800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:38642000-38652600	Weak transcription	Stomach Mucosa	stomach
20	chr6:38642000-38657600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:38642200-38651400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:38642200-38652200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:38642200-38656400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:38642400-38647200	Strong transcription	Adipose Nuclei	Adipose
25	chr6:38642400-38647200	Strong transcription	Fetal Intestine Large	intestine
26	chr6:38642400-38647400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:38642400-38647600	Strong transcription	Fetal Thymus	thymus
28	chr6:38642400-38648400	Strong transcription	HepG2	liver
29	chr6:38642400-38649800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:38642400-38650200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:38642400-38651200	Strong transcription	Fetal Lung	lung
32	chr6:38642400-38652000	Strong transcription	Fetal Muscle Leg	muscle
33	chr6:38642400-38652400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:38642400-38653600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:38642400-38653800	Strong transcription	Dnd41	blood
36	chr6:38642400-38654000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:38642400-38654800	Weak transcription	Psoas Muscle	Psoas
38	chr6:38642400-38655200	Strong transcription	NHEK	skin
39	chr6:38642400-38657000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:38642400-38660000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:38642400-38665600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:38642600-38646800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:38642600-38646800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:38642600-38646800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:38642600-38647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:38642600-38647400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:38642600-38647400	Strong transcription	Thymus	Thymus
48	chr6:38642600-38648200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:38642600-38650000	Strong transcription	Hela-S3	cervix
50	chr6:38642600-38651800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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