Variant report

Variant	esv1796492
Chromosome Location	chr6:35625147-35628841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35620486..35627650-chr6:35628500..35632953,8	K562	blood:
2	chr6:35598428..35600068-chr6:35622277..35625215,2	K562	blood:
3	chr6:35617515..35621104-chr6:35622560..35625849,4	K562	blood:
4	chr6:35623936..35626791-chr6:35629210..35631591,5	K562	blood:
5	chr6:35617868..35619553-chr6:35622560..35625369,2	K562	blood:

Variant related genes	Relation type
ENSG00000212579	chromatin interactions
ENSG00000265527	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4713904	chr6:35625147-35625148	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572640003	chr6:35625200-35625201	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542949143	chr6:35625235-35625236	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561584008	chr6:35625318-35625319	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs147082265	chr6:35625332-35625333	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548641560	chr6:35625340-35625341	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549732666	chr6:35625435-35625436	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568495532	chr6:35625466-35625467	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372101120	chr6:35625472-35625473	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79239660	chr6:35625473-35625474	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186511199	chr6:35625556-35625557	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138759603	chr6:35625573-35625574	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142747146	chr6:35625608-35625609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs79476859	chr6:35625638-35625639	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs6929523	chr6:35625705-35625706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs191165681	chr6:35625762-35625763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372544295	chr6:35625842-35625843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537356967	chr6:35625845-35625846	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183330270	chr6:35625858-35625859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373040535	chr6:35625879-35625880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570497639	chr6:35625911-35625912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13215497	chr6:35625936-35625937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs113609907	chr6:35625976-35625977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186962327	chr6:35626009-35626010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539701825	chr6:35626051-35626052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574451486	chr6:35626101-35626102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543168872	chr6:35626108-35626109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192516201	chr6:35626110-35626111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576302703	chr6:35626137-35626138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553268492	chr6:35626138-35626139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76759788	chr6:35626158-35626159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77632049	chr6:35626160-35626161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79149033	chr6:35626161-35626162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201258142	chr6:35626174-35626175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76924620	chr6:35626176-35626177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571980884	chr6:35626256-35626257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540701766	chr6:35626332-35626333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561022861	chr6:35626378-35626379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368190273	chr6:35626434-35626435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368569628	chr6:35626435-35626436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4711425	chr6:35626500-35626501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112655255	chr6:35626610-35626611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs137858108	chr6:35626655-35626656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113256143	chr6:35626665-35626666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541160804	chr6:35626739-35626740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113521412	chr6:35626810-35626811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149539244	chr6:35626853-35626854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201675040	chr6:35626865-35626866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77253887	chr6:35626932-35626933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377622142	chr6:35627005-35627006	Weak transcription	Chromatin interactive region	1 gene(s)	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:87 , 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	chr6:35614200-35625600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:35614200-35630800	Weak transcription	Liver	Liver
29	chr6:35614600-35630800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr6:35615000-35631000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:35615400-35635200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:35615600-35630800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:35616400-35630200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:35616600-35630600	Weak transcription	Thymus	Thymus
35	chr6:35618800-35629600	Weak transcription	Primary T cells from cord blood	blood
36	chr6:35619600-35630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:35619600-35630800	Weak transcription	K562	blood
38	chr6:35620800-35626400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr6:35621400-35628200	Weak transcription	GM12878-XiMat	blood
40	chr6:35621400-35630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:35622000-35626400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:35622000-35626400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr6:35622400-35625200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:35622400-35626000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:35622600-35630000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:35622600-35630800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:35622800-35630200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:35622800-35630200	Weak transcription	Esophagus	oesophagus
49	chr6:35622800-35630200	Weak transcription	Lung	lung
50	chr6:35622800-35630800	Weak transcription	Left Ventricle	heart

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