Variant report

Variant	esv2762586
Chromosome Location	chr6:36344863-36348326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36344496..36346908-chr6:36354591..36356413,2	K562	blood:
2	chr6:36347526..36349240-chr6:36352774..36355129,2	K562	blood:
3	chr6:36344497..36346225-chr6:36349695..36351527,2	K562	blood:
4	chr6:36346736..36349026-chr6:36352669..36354274,2	K562	blood:
5	chr6:36341854..36343386-chr6:36345415..36348354,2	K562	blood:

Variant related genes	Relation type
ENSG00000010030	chromatin interactions
ENSG00000224666	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151001600	chr6:36344875-36344876	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs541439179	chr6:36344895-36344896	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368679317	chr6:36344897-36344898	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532037068	chr6:36344902-36344903	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116108586	chr6:36344922-36344923	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs550104365	chr6:36344945-36344946	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565514997	chr6:36344964-36344965	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374415460	chr6:36344978-36344979	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9470264	chr6:36344980-36344981	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150135494	chr6:36344987-36344988	Enhancers Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544121122	chr6:36345107-36345108	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566201838	chr6:36345119-36345120	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545595713	chr6:36345139-36345140	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7763621	chr6:36345152-36345153	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs138912023	chr6:36345159-36345160	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548603553	chr6:36345168-36345169	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7763634	chr6:36345169-36345170	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6928048	chr6:36345180-36345181	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7763747	chr6:36345195-36345196	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576996115	chr6:36345199-36345200	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374136387	chr6:36345220-36345221	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs7763889	chr6:36345279-36345280	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534538552	chr6:36345295-36345296	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552614431	chr6:36345310-36345311	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574202820	chr6:36345318-36345319	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541379835	chr6:36345463-36345464	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7763835	chr6:36345466-36345467	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7746005	chr6:36345467-36345468	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7764225	chr6:36345514-36345515	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7746133	chr6:36345523-36345524	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562992560	chr6:36345531-36345532	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs576655234	chr6:36345541-36345542	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs192751810	chr6:36345542-36345543	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371037940	chr6:36345552-36345553	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs532713551	chr6:36345609-36345610	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560852777	chr6:36345617-36345618	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145670706	chr6:36345623-36345624	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531375955	chr6:36345624-36345625	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7764029	chr6:36345655-36345656	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12198784	chr6:36345741-36345742	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7764323	chr6:36345840-36345841	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs559837560	chr6:36345849-36345850	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs77112350	chr6:36345890-36345891	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs377312220	chr6:36345916-36345917	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs547596782	chr6:36345917-36345918	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs114759206	chr6:36345925-36345926	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530694681	chr6:36345947-36345948	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs9470265	chr6:36345977-36345978	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs56330252	chr6:36346009-36346010	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs371311505	chr6:36346016-36346017	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36326800-36354000	Weak transcription	Small Intestine	intestine
2	chr6:36327000-36354000	Weak transcription	Right Atrium	heart
3	chr6:36328400-36345600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:36328400-36351200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:36328400-36353400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:36328800-36353600	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:36333200-36353800	Weak transcription	Pancreas	Pancrea
8	chr6:36333800-36353600	Weak transcription	Stomach Mucosa	stomach
9	chr6:36334400-36345600	Strong transcription	Fetal Intestine Small	intestine
10	chr6:36334600-36351000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:36337000-36345400	Weak transcription	Aorta	Aorta
12	chr6:36337200-36348600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:36339200-36354200	Weak transcription	Esophagus	oesophagus
14	chr6:36339800-36353600	Weak transcription	Lung	lung
15	chr6:36341600-36350800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:36341800-36350800	Weak transcription	Spleen	Spleen
17	chr6:36342000-36346400	Weak transcription	Fetal Thymus	thymus
18	chr6:36343600-36345600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:36343600-36345600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:36344200-36345400	Weak transcription	GM12878-XiMat	blood
21	chr6:36344200-36354000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:36344600-36345200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:36344600-36345600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:36344600-36347200	Enhancers	Liver	Liver
25	chr6:36344800-36345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:36344800-36345200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
27	chr6:36345000-36345400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:36345000-36351000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:36345200-36345400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:36345200-36346600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:36345400-36345800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:36345400-36345800	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:36345400-36346000	Active TSS	Aorta	Aorta
34	chr6:36345400-36346000	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:36345400-36351800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:36345600-36345800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:36345600-36345800	Enhancers	NHEK	skin
38	chr6:36345600-36347200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr6:36345600-36348200	Weak transcription	Fetal Intestine Small	intestine
40	chr6:36345600-36350400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:36346000-36346400	Active TSS	GM12878-XiMat	blood
42	chr6:36346000-36350200	Weak transcription	Aorta	Aorta
43	chr6:36346200-36346800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:36346400-36346600	Enhancers	Fetal Thymus	thymus
45	chr6:36346400-36346800	Flanking Active TSS	GM12878-XiMat	blood
46	chr6:36346800-36347000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:36346800-36349000	Enhancers	GM12878-XiMat	blood
48	chr6:36346800-36351000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:36347200-36351000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:36348200-36349000	Strong transcription	Fetal Intestine Small	intestine

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