Variant report

Variant	esv1005212
Chromosome Location	chr1:44972573-44985674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:44974069..44975867-chr1:45042813..45044583,2	K562	blood:
2	chr1:44965779..44967986-chr1:44972874..44975622,2	K562	blood:
3	chr1:44975674..44978843-chr1:44984055..44988124,5	K562	blood:
4	chr1:44843919..44844491-chr1:44972615..44973562,2	K562	blood:
5	chr1:44950120..44953061-chr1:44985503..44987961,3	K562	blood:
6	chr1:44965149..44968034-chr1:44976325..44978093,2	K562	blood:
7	chr1:44974401..44976254-chr1:44977179..44979196,2	K562	blood:
8	chr1:44971909..44974855-chr1:44979477..44982336,4	K562	blood:
9	chr1:44985661..44990504-chr1:44998639..45004929,7	K562	blood:
10	chr1:44952504..44954756-chr1:44972241..44973836,2	K562	blood:
11	chr1:44975674..44978374-chr1:44983451..44986964,3	K562	blood:
12	chr1:44985539..44988596-chr1:44996958..44999137,3	K562	blood:
13	chr1:44965854..44968248-chr1:44973969..44975941,2	K562	blood:
14	chr1:44975674..44978374-chr1:44983451..44986964,3	K562	blood:
15	chr1:44975740..44979460-chr1:44980605..44983213,3	K562	blood:
16	chr1:44968762..44970353-chr1:44978276..44981177,2	K562	blood:
17	chr1:44974401..44976254-chr1:44977179..44979196,2	K562	blood:
18	chr1:44975740..44979460-chr1:44980605..44983213,3	K562	blood:
19	chr1:44891978..44894211-chr1:44975036..44977951,2	K562	blood:
20	chr1:44971909..44974855-chr1:44979477..44982336,4	K562	blood:
21	chr1:44975674..44978843-chr1:44984055..44988124,5	K562	blood:

No data

Extended variants
information (count: 498 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529122805	chr1:44972586-44972587	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548742471	chr1:44972603-44972604	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs138914800	chr1:44972615-44972616	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537761702	chr1:44972627-44972628	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377644060	chr1:44972653-44972654	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374240831	chr1:44972697-44972698	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376493943	chr1:44972698-44972699	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142833375	chr1:44972721-44972722	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7550459	chr1:44972725-44972726	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533549426	chr1:44972797-44972798	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs781773	chr1:44972842-44972843	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573638926	chr1:44972914-44972915	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542716722	chr1:44972972-44972973	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556012574	chr1:44972986-44972987	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575868321	chr1:44973001-44973002	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs367876881	chr1:44973072-44973073	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs544925484	chr1:44973089-44973090	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146983086	chr1:44973096-44973097	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540253153	chr1:44973135-44973136	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375512506	chr1:44973136-44973137	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111981997	chr1:44973142-44973143	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561775611	chr1:44973204-44973205	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560661311	chr1:44973241-44973242	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529365851	chr1:44973243-44973244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190522912	chr1:44973251-44973252	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181789821	chr1:44973252-44973253	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531356566	chr1:44973290-44973291	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138066891	chr1:44973308-44973309	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530794021	chr1:44973349-44973350	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs781772	chr1:44973356-44973357	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186899145	chr1:44973366-44973367	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533817827	chr1:44973369-44973370	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547098776	chr1:44973370-44973371	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532986840	chr1:44973385-44973386	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188654735	chr1:44973407-44973408	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs376959036	chr1:44973415-44973416	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536364249	chr1:44973428-44973429	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs556249015	chr1:44973432-44973433	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575959063	chr1:44973520-44973521	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150528632	chr1:44973531-44973532	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376626875	chr1:44973545-44973546	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150142445	chr1:44973546-44973547	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs540890423	chr1:44973624-44973625	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560299166	chr1:44973646-44973647	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573655397	chr1:44973655-44973656	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185226823	chr1:44973724-44973725	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562637721	chr1:44973746-44973747	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531442403	chr1:44973766-44973767	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372809412	chr1:44973855-44973856	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551271677	chr1:44973866-44973867	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44966200-44975400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:44966800-44973000	Enhancers	Brain Angular Gyrus	brain
3	chr1:44967200-44973200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:44967400-44972600	Enhancers	Brain Anterior Caudate	brain
5	chr1:44967400-44973400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:44967400-44973400	Enhancers	Brain Substantia Nigra	brain
7	chr1:44967600-44975200	Weak transcription	Right Atrium	heart
8	chr1:44968000-44972800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:44968000-44974800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:44969400-44972800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:44969400-44973000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:44970000-44974000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:44970000-44974000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:44970200-44973000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:44970200-44973200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:44970600-44973000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr1:44970600-44974200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr1:44970800-44973200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr1:44970800-44974400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr1:44970800-44974400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:44971000-44974200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr1:44971000-44974400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:44971200-44975200	Enhancers	Brain Hippocampus Middle	brain
24	chr1:44971400-44972600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr1:44971400-44974800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr1:44971600-44975600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:44971800-44973000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr1:44972000-44972800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:44972000-44973600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:44972000-44973800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr1:44972200-44972800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
32	chr1:44972200-44973200	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr1:44972400-44972600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:44972400-44974400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:44972600-44973000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
36	chr1:44972600-44973000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:44972600-44973000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr1:44972600-44973000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr1:44972600-44973200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:44972800-44973000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:44972800-44973000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:44972800-44973800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:44972800-44974400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr1:44972800-44974800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:44973000-44973200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:44973000-44973200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr1:44973000-44973400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr1:44973000-44973800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:44973000-44974000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:44973000-44974000	Weak transcription	Brain Angular Gyrus	brain

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