Variant report

Variant	esv2620531
Chromosome Location	chr6:32377338-32379171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:32182909..32184836-chr6:32376320..32378864,2	K562	blood:
2	chr6:32374160..32377541-chr6:32378069..32380591,3	K562	blood:
3	chr6:32378684..32381105-chr6:32948771..32950331,2	K562	blood:

Variant related genes	Relation type
ENSG00000204290	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115974432	chr6:32377360-32377361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555610127	chr6:32377397-32377398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9268505	chr6:32377408-32377409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs562965086	chr6:32377425-32377426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9268506	chr6:32377470-32377471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545365310	chr6:32377473-32377474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139592473	chr6:32377512-32377513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9268507	chr6:32377539-32377540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9268508	chr6:32377588-32377589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567524788	chr6:32377592-32377593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189521820	chr6:32377624-32377625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181178497	chr6:32377673-32377674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28732205	chr6:32377712-32377713	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs549519546	chr6:32377717-32377718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375682741	chr6:32377719-32377720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377616225	chr6:32377720-32377721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568909732	chr6:32377751-32377752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140791734	chr6:32377815-32377816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7773668	chr6:32377824-32377825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9268509	chr6:32377830-32377831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557723559	chr6:32377846-32377847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62404580	chr6:32377860-32377861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186579206	chr6:32377865-32377866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113104921	chr6:32377878-32377879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370018254	chr6:32377903-32377904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111308541	chr6:32377905-32377906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28515648	chr6:32378132-32378133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573894918	chr6:32378151-32378152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs28570613	chr6:32378407-32378408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9268510	chr6:32378503-32378504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556411657	chr6:32378557-32378558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs578047435	chr6:32378583-32378584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9268511	chr6:32378645-32378646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141815567	chr6:32378646-32378647	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368213214	chr6:32378647-32378648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs9281780	chr6:32378658-32378659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112092299	chr6:32378683-32378684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116023803	chr6:32378701-32378702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558792617	chr6:32378746-32378747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9281782	chr6:32378762-32378763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569912859	chr6:32378778-32378779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs9268513	chr6:32378787-32378788	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs5007266	chr6:32378834-32378835	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189839110	chr6:32378839-32378840	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs5007265	chr6:32378866-32378867	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs5007264	chr6:32378877-32378878	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs145541078	chr6:32378896-32378897	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3129961	chr6:32378940-32378941	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9268514	chr6:32378945-32378946	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs5007263	chr6:32378982-32378983	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:125)

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
Lung cancer	18438408	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
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	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
abnormal development	18461090	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
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32368400-32385600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:32374400-32378800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:32375400-32378800	Weak transcription	Fetal Intestine Large	intestine
4	chr6:32375800-32378800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:32378800-32379000	Active TSS	Duodenum Mucosa	Duodenum
6	chr6:32378800-32379000	Bivalent Enhancer	Fetal Kidney	kidney
7	chr6:32378800-32379400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:32378800-32381200	Enhancers	Fetal Intestine Large	intestine
9	chr6:32378800-32381200	Enhancers	Fetal Intestine Small	intestine
10	chr6:32379000-32379200	Bivalent Enhancer	HepG2	liver
11	chr6:32379000-32379600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
12	chr6:32379000-32379800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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