Variant report

Variant	esv3499029
Chromosome Location	chr6:44510824-44516422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44510267..44512106-chr6:44515045..44516562,2	K562	blood:
2	chr6:44510267..44512106-chr6:44515045..44516562,2	K562	blood:
3	chr6:44504867..44507271-chr6:44510365..44512110,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AARS2-2	chr6:44513902-44514193	NONHSAT112964

Extended variants
information (count: 225 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75739892	chr6:44510844-44510845	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs191808142	chr6:44510845-44510846	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs539165836	chr6:44510857-44510858	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs527731185	chr6:44510861-44510862	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs537748865	chr6:44510863-44510864	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs557077801	chr6:44510878-44510879	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs575625987	chr6:44510940-44510941	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs184285349	chr6:44510941-44510942	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs554809345	chr6:44510956-44510957	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs189865046	chr6:44510965-44510966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs76628659	chr6:44510978-44510979	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs142447745	chr6:44510980-44510981	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs369262573	chr6:44511008-44511009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560473537	chr6:44511032-44511033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151307122	chr6:44511078-44511079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56281832	chr6:44511082-44511083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58359123	chr6:44511094-44511095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59490014	chr6:44511111-44511112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372698788	chr6:44511117-44511118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57461377	chr6:44511132-44511133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563115035	chr6:44511144-44511145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55784578	chr6:44511146-44511147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76134908	chr6:44511168-44511169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549172727	chr6:44511171-44511172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58362059	chr6:44511184-44511185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58750647	chr6:44511190-44511191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58302737	chr6:44511193-44511194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569078264	chr6:44511206-44511207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59653747	chr6:44511220-44511221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55992643	chr6:44511238-44511239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56027341	chr6:44511253-44511254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56256356	chr6:44511263-44511264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55972886	chr6:44511264-44511265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549013072	chr6:44511283-44511284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150599209	chr6:44511327-44511328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373899113	chr6:44511330-44511331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567537400	chr6:44511423-44511424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528396861	chr6:44511465-44511466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546470894	chr6:44511603-44511604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117767651	chr6:44511612-44511613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553423658	chr6:44511613-44511614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139343542	chr6:44511632-44511633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569269125	chr6:44511664-44511665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536218846	chr6:44511689-44511690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60013009	chr6:44511703-44511704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55739205	chr6:44511736-44511737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374273007	chr6:44511749-44511750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540837146	chr6:44511750-44511751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565410864	chr6:44511754-44511755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146565037	chr6:44511792-44511793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Cervical cancer	21062161	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44509000-44511200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:44509200-44511600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:44509400-44511000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:44509400-44511000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:44509400-44511000	Enhancers	HSMMtube	muscle
6	chr6:44509400-44511400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:44509600-44511000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:44509600-44511000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:44509600-44511200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:44509800-44511000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:44509800-44513000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:44510000-44511000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:44510200-44511000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr6:44510200-44511400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:44510200-44511600	Enhancers	Psoas Muscle	Psoas
16	chr6:44510600-44511000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:44510600-44511000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr6:44510600-44511000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:44510600-44511000	Enhancers	Adipose Nuclei	Adipose
20	chr6:44510600-44511000	Enhancers	Brain Germinal Matrix	brain
21	chr6:44510600-44511000	Enhancers	NH-A	brain
22	chr6:44510600-44511200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:44510600-44511200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:44510600-44511200	Enhancers	Brain Anterior Caudate	brain
25	chr6:44510600-44511400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:44510600-44511600	Enhancers	Ovary	ovary
27	chr6:44510800-44511000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:44510800-44511200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:44510800-44511200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:44511000-44511600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:44511000-44511600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:44511000-44513000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:44511000-44516000	Weak transcription	HSMMtube	muscle
34	chr6:44511000-44516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:44511200-44511600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:44511200-44511800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:44511400-44512200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:44511400-44512800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:44511600-44512200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:44511600-44512200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:44511600-44512600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:44511600-44512800	Weak transcription	Psoas Muscle	Psoas
43	chr6:44511800-44512000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:44512200-44512400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:44512200-44512600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:44512600-44513000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:44512800-44513000	Enhancers	Psoas Muscle	Psoas
48	chr6:44512800-44513400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:44513000-44513200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:44513000-44513200	Weak transcription	Psoas Muscle	Psoas

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