Variant report

Variant	esv1797636
Chromosome Location	chr6:35626500-35628841
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	chr6:35623936..35626791-chr6:35629210..35631591,5	K562	blood:
2	chr6:35620486..35627650-chr6:35628500..35632953,8	K562	blood:

Variant related genes	Relation type
ENSG00000265527	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4711425	chr6:35626500-35626501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112655255	chr6:35626610-35626611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs137858108	chr6:35626655-35626656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113256143	chr6:35626665-35626666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541160804	chr6:35626739-35626740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113521412	chr6:35626810-35626811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149539244	chr6:35626853-35626854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201675040	chr6:35626865-35626866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77253887	chr6:35626932-35626933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377622142	chr6:35627005-35627006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113814865	chr6:35627105-35627106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548330837	chr6:35627119-35627120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111251652	chr6:35627194-35627195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139931642	chr6:35627238-35627239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530811006	chr6:35627261-35627262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7775489	chr6:35627267-35627268	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114176739	chr6:35627317-35627318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534564533	chr6:35627408-35627409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552706624	chr6:35627422-35627423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568116884	chr6:35627474-35627475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535221014	chr6:35627519-35627520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139648770	chr6:35627737-35627738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148451847	chr6:35627779-35627780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115264868	chr6:35627921-35627922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543696736	chr6:35628020-35628021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552471642	chr6:35628067-35628068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534993593	chr6:35628122-35628123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577120459	chr6:35628194-35628195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541374437	chr6:35628196-35628197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553436287	chr6:35628224-35628225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530179917	chr6:35628292-35628293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112824391	chr6:35628308-35628309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201622929	chr6:35628330-35628331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563464788	chr6:35628334-35628335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530773735	chr6:35628335-35628336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4713905	chr6:35628478-35628479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188123934	chr6:35628486-35628487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151038510	chr6:35628524-35628525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111367541	chr6:35628531-35628532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546551040	chr6:35628730-35628731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139673127	chr6:35628827-35628828	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35588200-35630800	Weak transcription	Colonic Mucosa	Colon
2	chr6:35609400-35630400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:35609400-35630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:35609400-35630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:35609400-35630800	Weak transcription	Gastric	stomach
6	chr6:35609600-35630200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:35609600-35630600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:35610000-35630800	Weak transcription	Spleen	Spleen
9	chr6:35610000-35630800	Weak transcription	HMEC	breast
10	chr6:35610400-35630600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:35610600-35630000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:35610600-35630000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:35610600-35630000	Weak transcription	Pancreas	Pancrea
14	chr6:35610600-35630400	Weak transcription	HUVEC	blood vessel
15	chr6:35610600-35630800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:35610600-35631200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:35611200-35631000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:35611400-35630800	Weak transcription	Brain Substantia Nigra	brain
19	chr6:35611600-35630800	Weak transcription	Brain Anterior Caudate	brain
20	chr6:35611600-35631400	Weak transcription	Primary B cells from cord blood	blood
21	chr6:35612200-35630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:35613400-35629800	Weak transcription	NHEK	skin
23	chr6:35613400-35630800	Weak transcription	Small Intestine	intestine
24	chr6:35613600-35630800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:35613600-35630800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:35614000-35630800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:35614200-35630800	Weak transcription	Liver	Liver
28	chr6:35614600-35630800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:35615000-35631000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:35615400-35635200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:35615600-35630800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:35616400-35630200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:35616600-35630600	Weak transcription	Thymus	Thymus
34	chr6:35618800-35629600	Weak transcription	Primary T cells from cord blood	blood
35	chr6:35619600-35630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:35619600-35630800	Weak transcription	K562	blood
37	chr6:35621400-35628200	Weak transcription	GM12878-XiMat	blood
38	chr6:35621400-35630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:35622600-35630000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:35622600-35630800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:35622800-35630200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:35622800-35630200	Weak transcription	Esophagus	oesophagus
43	chr6:35622800-35630200	Weak transcription	Lung	lung
44	chr6:35622800-35630800	Weak transcription	Left Ventricle	heart
45	chr6:35622800-35630800	Weak transcription	Ovary	ovary
46	chr6:35623000-35629200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:35623400-35628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:35623400-35629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:35623400-35630000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:35623800-35630000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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