Variant report

Variant	esv3408551
Chromosome Location	chr6:29955568-29955932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29949567..29952384-chr6:29955471..29958344,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17180801	chr6:29955573-29955574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17180808	chr6:29955580-29955581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142474483	chr6:29955583-29955584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17187203	chr6:29955598-29955599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73410515	chr6:29955610-29955611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532813071	chr6:29955613-29955614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73410517	chr6:29955635-29955636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545916897	chr6:29955638-29955639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77120552	chr6:29955656-29955657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200802969	chr6:29955665-29955666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201629155	chr6:29955685-29955686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562895772	chr6:29955688-29955689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78238694	chr6:29955693-29955694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115970074	chr6:29955708-29955709	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs200639764	chr6:29955725-29955726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193218768	chr6:29955731-29955732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548645729	chr6:29955732-29955733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200367801	chr6:29955737-29955738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370757550	chr6:29955738-29955739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370431835	chr6:29955752-29955753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568184738	chr6:29955756-29955757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78670111	chr6:29955763-29955764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73410518	chr6:29955774-29955775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113761719	chr6:29955784-29955785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373616069	chr6:29955785-29955786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9256989	chr6:29955788-29955789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202048005	chr6:29955789-29955790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73410521	chr6:29955809-29955810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73725925	chr6:29955820-29955821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116357249	chr6:29955833-29955834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114394465	chr6:29955858-29955859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114180642	chr6:29955862-29955863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531507933	chr6:29955903-29955904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190342950	chr6:29955921-29955922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192868465	chr6:29955924-29955925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113807842	chr6:29955930-29955931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29945600-29966400	Weak transcription	Pancreas	Pancrea

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