Variant report

Variant	esv9046
Chromosome Location	chr6:32315170-32316483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:32315772-32315822	SK-N-SH	brain:	n/a
2	chr6:32315772-32315822	AG04449	skin:	fetal
3	chr6:32315253-32315303	IMR90	lung:	fetal
4	chr6:32315253-32315303	AG09309	skin:	n/a
5	chr6:32315772-32315822	AoSMC	blood vessel:	n/a
6	chr6:32315253-32315303	HUVEC	blood vessel:	n/a
7	chr6:32315253-32315303	BE2_C	brain:	n/a
8	chr6:32315772-32315822	Jurkat	blood:	n/a
9	chr6:32315772-32315822	K562	blood:	n/a
10	chr6:32315253-32315303	AG04450	lung:	fetal
11	chr6:32315253-32315303	A549	lung:	n/a
12	chr6:32315253-32315303	NT2-D1	testis:	n/a
13	chr6:32315772-32315822	BJ	skin:	n/a
14	chr6:32315253-32315303	ProgFib	skin:	n/a
15	chr6:32315772-32315822	ECC-1	luminal epithelium:	n/a
16	chr6:32315772-32315822	PFSK-1	brain:	n/a
17	chr6:32315253-32315303	U87	brain:	n/a
18	chr6:32315253-32315303	K562	blood:	n/a
19	chr6:32315772-32315822	GM06990	blood:	n/a
20	chr6:32315253-32315303	BJ	skin:	n/a
21	chr6:32315253-32315303	NHBE	bronchial:	n/a
22	chr6:32315772-32315822	HepG2	liver:	n/a
23	chr6:32315253-32315303	ovcar-3	ovarian:	n/a
24	chr6:32315772-32315822	HMEC	breast:	n/a
25	chr6:32315772-32315822	SAEC	small airway:	n/a
26	chr6:32315772-32315822	PrEC	prostate:	n/a
27	chr6:32315772-32315822	SK-N-MC	brain:	n/a
28	chr6:32315772-32315822	A549	lung:	n/a
29	chr6:32315253-32315303	GM06990	blood:	n/a
30	chr6:32315772-32315822	RPTEC	kidney:	n/a
31	chr6:32315253-32315303	HCPEpiC	choroid plexus:	n/a
32	chr6:32315253-32315303	MCF-7	breast:	n/a
33	chr6:32315253-32315303	HRPEpiC	eye:	n/a
34	chr6:32315772-32315822	HRCEpiC	kidney:	n/a
35	chr6:32315772-32315822	NHDF-neo	bronchial:	n/a
36	chr6:32315253-32315303	GM12892	blood:	n/a
37	chr6:32315772-32315822	HAEpiC	amniotic membrane:	n/a
38	chr6:32315772-32315822	AG04450	lung:	fetal
39	chr6:32315253-32315303	PrEC	prostate:	n/a
40	chr6:32315253-32315303	HPAEpiC	pulmonary alveolar:	n/a
41	chr6:32315253-32315303	ECC-1	luminal epithelium:	n/a
42	chr6:32315253-32315303	LNCaP	prostate:	n/a
43	chr6:32315253-32315303	HCT-116	colon:	n/a
44	chr6:32315253-32315303	HMEC	breast:	n/a
45	chr6:32315253-32315303	AG04449	skin:	fetal
46	chr6:32315772-32315822	Caco-2	colon:	n/a
47	chr6:32315253-32315303	HIPEpiC	eye:	n/a
48	chr6:32315253-32315303	Caco-2	colon:	n/a
49	chr6:32315772-32315822	MCF-7	breast:	n/a
50	chr6:32315253-32315303	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
RNU6-603P	CpG island

Extended variants
information (count: 37 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9268283	chr6:32315173-32315174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543049202	chr6:32315189-32315190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558842007	chr6:32315203-32315204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577047667	chr6:32315204-32315205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9268284	chr6:32315216-32315217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78461719	chr6:32315253-32315254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559612385	chr6:32315267-32315268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114147287	chr6:32315281-32315282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560909444	chr6:32315287-32315288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570055919	chr6:32315360-32315361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542354411	chr6:32315384-32315385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117568512	chr6:32315390-32315391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530979359	chr6:32315414-32315415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552658140	chr6:32315421-32315422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150689223	chr6:32315439-32315440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28366182	chr6:32315486-32315487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs528796725	chr6:32315489-32315490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55967581	chr6:32315496-32315497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs3117128	chr6:32315500-32315501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs535611702	chr6:32315503-32315504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3117127	chr6:32315507-32315508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs9268285	chr6:32315557-32315558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9268286	chr6:32315593-32315594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs58539449	chr6:32315598-32315599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545513028	chr6:32315609-32315610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs910050	chr6:32315654-32315655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs56269008	chr6:32315722-32315723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs910049	chr6:32315727-32315728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
29	rs559893906	chr6:32315749-32315750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139055148	chr6:32315752-32315753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80197836	chr6:32315754-32315755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116054853	chr6:32315807-32315808	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs182808813	chr6:32315880-32315881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12198399	chr6:32315929-32315930	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs3117126	chr6:32315975-32315976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs187769558	chr6:32315982-32315983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564703807	chr6:32315983-32315984	Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32312600-32315200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:32315000-32315600	Enhancers	Brain Cingulate Gyrus	brain
3	chr6:32315000-32315800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:32315200-32315600	Enhancers	Brain Hippocampus Middle	brain
5	chr6:32315200-32316000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:32315200-32316000	Enhancers	Brain Substantia Nigra	brain
7	chr6:32315400-32316000	Enhancers	Brain Angular Gyrus	brain

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