Variant report

Variant	esv3376748
Chromosome Location	chr6:29946530-29948531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:29943871..29947343-chr6:29947953..29952410,7	K562	blood:
2	chr6:29941687..29943484-chr6:29948352..29949943,2	K562	blood:
3	chr6:29944005..29947343-chr6:29947938..29951140,5	K562	blood:

Variant related genes	Relation type
ENSG00000204625	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9468671	chr6:29946548-29946549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376755318	chr6:29946561-29946562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369453985	chr6:29946570-29946571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9260871	chr6:29946571-29946572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs9260872	chr6:29946577-29946578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs386698654	chr6:29946591-29946592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201732084	chr6:29946597-29946598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540194050	chr6:29946598-29946599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367948051	chr6:29946599-29946600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140194104	chr6:29946606-29946607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570893710	chr6:29946608-29946609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377538754	chr6:29946630-29946631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55809494	chr6:29946635-29946636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535324417	chr6:29946658-29946659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574924838	chr6:29946664-29946665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368416940	chr6:29946679-29946680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1974574	chr6:29946715-29946716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs374524285	chr6:29946726-29946727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187413331	chr6:29946770-29946771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573664780	chr6:29946784-29946785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10456375	chr6:29946808-29946809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368798100	chr6:29946821-29946822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9260874	chr6:29946834-29946835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532082334	chr6:29946836-29946837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545506751	chr6:29946891-29946892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9260877	chr6:29946907-29946908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371297537	chr6:29946908-29946909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9260878	chr6:29946915-29946916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2508034	chr6:29946922-29946923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527667344	chr6:29946935-29946936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529178673	chr6:29946948-29946949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367881319	chr6:29946959-29946960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150961278	chr6:29946970-29946971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2508033	chr6:29946991-29946992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2508032	chr6:29946992-29946993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531011649	chr6:29947005-29947006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552731895	chr6:29947089-29947090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570855655	chr6:29947092-29947093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28749538	chr6:29947128-29947129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs572271302	chr6:29947129-29947130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138733936	chr6:29947134-29947135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141037485	chr6:29947140-29947141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184901129	chr6:29947141-29947142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58815089	chr6:29947158-29947159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28749539	chr6:29947313-29947314	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs9260887	chr6:29947339-29947340	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs76493339	chr6:29947343-29947344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373709377	chr6:29947385-29947386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9260892	chr6:29947390-29947391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370066277	chr6:29947437-29947438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	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	19571809	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	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Pancreatic cancer	17952125	CNVD
Rett syndrome	21593744	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29945200-29948600	Weak transcription	Small Intestine	intestine
2	chr6:29945200-29948600	Weak transcription	Spleen	Spleen
3	chr6:29945400-29948800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:29945400-29950200	Weak transcription	Right Atrium	heart
5	chr6:29945600-29948000	Weak transcription	Colonic Mucosa	Colon
6	chr6:29945600-29948600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:29945600-29948600	Weak transcription	Stomach Mucosa	stomach
8	chr6:29945600-29948800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:29945600-29966400	Weak transcription	Pancreas	Pancrea
10	chr6:29945800-29948800	Weak transcription	HepG2	liver
11	chr6:29946400-29946600	Enhancers	A549	lung

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