Variant report

Variant	esv2476554
Chromosome Location	chr6:45308232-45309769
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	chr6:45302590..45306713-chr6:45309297..45313421,5	K562	blood:
2	chr6:45301898..45307330-chr6:45307475..45313805,9	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141420221	chr6:45308281-45308282	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150815691	chr6:45308307-45308308	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542585751	chr6:45308325-45308326	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570818751	chr6:45308335-45308336	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538244583	chr6:45308378-45308379	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377255309	chr6:45308381-45308382	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10948230	chr6:45308446-45308447	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186850600	chr6:45308455-45308456	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536040135	chr6:45308489-45308490	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190134956	chr6:45308522-45308523	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182784121	chr6:45308567-45308568	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572725582	chr6:45308608-45308609	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551124225	chr6:45308724-45308725	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558441111	chr6:45308733-45308734	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36042692	chr6:45308747-45308748	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576384959	chr6:45308804-45308805	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139241694	chr6:45308880-45308881	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367678892	chr6:45308905-45308906	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188318039	chr6:45308918-45308919	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199664926	chr6:45308920-45308921	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562434604	chr6:45308938-45308939	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574511909	chr6:45308963-45308964	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542036678	chr6:45308968-45308969	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113245219	chr6:45308997-45308998	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34450016	chr6:45309007-45309008	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149333152	chr6:45309018-45309019	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527896164	chr6:45309079-45309080	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12110325	chr6:45309102-45309103	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193197125	chr6:45309175-45309176	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114193529	chr6:45309183-45309184	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73735378	chr6:45309206-45309207	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566067444	chr6:45309232-45309233	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73735379	chr6:45309241-45309242	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535913361	chr6:45309244-45309245	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547593008	chr6:45309247-45309248	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536633495	chr6:45309323-45309324	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566292495	chr6:45309350-45309351	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533743710	chr6:45309362-45309363	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558429208	chr6:45309409-45309410	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373604099	chr6:45309427-45309428	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564199965	chr6:45309459-45309460	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548570755	chr6:45309531-45309532	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78680262	chr6:45309561-45309562	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546753125	chr6:45309571-45309572	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537428621	chr6:45309602-45309603	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556153008	chr6:45309606-45309607	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188880627	chr6:45309617-45309618	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541867920	chr6:45309619-45309620	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560290692	chr6:45309621-45309622	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572673532	chr6:45309631-45309632	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
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
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45296200-45322800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:45298400-45320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:45299200-45333200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:45299400-45343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:45301600-45329600	Weak transcription	Dnd41	blood
6	chr6:45304000-45324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:45304200-45317000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:45305000-45334000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:45305400-45310600	Weak transcription	Osteobl	bone
10	chr6:45305400-45339800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:45306600-45309800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:45309600-45310000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:45309600-45310000	Enhancers	Brain Anterior Caudate	brain

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