Variant report

Variant	esv3440862
Chromosome Location	chr1:228345354-228347902
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	chr1:228314188..228315980-chr1:228346492..228348438,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567296544	chr1:228345370-228345371	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536337713	chr1:228345378-228345379	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549625102	chr1:228345392-228345393	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569785905	chr1:228345393-228345394	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577811454	chr1:228345402-228345403	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138357152	chr1:228345510-228345511	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs149590094	chr1:228345515-228345516	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75469429	chr1:228345567-228345568	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376848686	chr1:228345580-228345581	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs267606847	chr1:228345602-228345603	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139992251	chr1:228345606-228345607	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs146183345	chr1:228345634-228345635	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371443995	chr1:228345639-228345640	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149908950	chr1:228345700-228345701	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373522338	chr1:228345710-228345711	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs74315312	chr1:228345727-228345728	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12075149	chr1:228345729-228345730	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148764840	chr1:228345744-228345745	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs202209462	chr1:228345750-228345751	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372240320	chr1:228345759-228345760	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375288744	chr1:228345761-228345762	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs147954793	chr1:228345762-228345763	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368990340	chr1:228345770-228345771	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574511063	chr1:228345777-228345778	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543481065	chr1:228345832-228345833	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563631405	chr1:228345877-228345878	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577325764	chr1:228345904-228345905	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546069072	chr1:228345971-228345972	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs201796910	chr1:228345987-228345988	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201277546	chr1:228346015-228346016	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201029551	chr1:228346021-228346022	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375318012	chr1:228346034-228346035	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs116557768	chr1:228346053-228346054	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147024647	chr1:228346108-228346109	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375623977	chr1:228346175-228346176	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74315313	chr1:228346177-228346178	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560832360	chr1:228346194-228346195	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529717425	chr1:228346236-228346237	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs267606846	chr1:228346237-228346238	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549807766	chr1:228346239-228346240	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs397514734	chr1:228346246-228346247	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138851189	chr1:228346261-228346262	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74315314	chr1:228346273-228346274	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374172867	chr1:228346276-228346277	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs74315311	chr1:228346316-228346317	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569642429	chr1:228346359-228346360	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs12755822	chr1:228346416-228346417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs4653910	chr1:228346425-228346426	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532281251	chr1:228346494-228346495	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146841026	chr1:228346525-228346526	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228332800-228349800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:228333800-228350400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:228336800-228350200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:228337800-228349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:228338000-228349200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:228338000-228349600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:228338200-228352400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:228338400-228349200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:228339000-228346000	Weak transcription	HMEC	breast
10	chr1:228339400-228352600	Weak transcription	Brain Anterior Caudate	brain
11	chr1:228339600-228345600	Weak transcription	Right Atrium	heart
12	chr1:228339600-228349000	Weak transcription	NHLF	lung
13	chr1:228339800-228349400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:228340000-228349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:228340600-228349600	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:228341800-228345400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:228342600-228350000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:228342800-228345800	Enhancers	Lung	lung
19	chr1:228342800-228346400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:228343000-228347200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:228343200-228345600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:228343200-228349200	Weak transcription	K562	blood
23	chr1:228343400-228347400	Weak transcription	NHEK	skin
24	chr1:228343400-228352400	Weak transcription	A549	lung
25	chr1:228343800-228345400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr1:228343800-228345600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:228344000-228345400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr1:228344000-228345400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:228344000-228345400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:228344000-228346000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr1:228344200-228345600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:228344200-228345600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:228344200-228345600	Weak transcription	Pancreas	Pancrea
34	chr1:228344200-228346400	Enhancers	Spleen	Spleen
35	chr1:228344200-228347200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr1:228344200-228348400	Weak transcription	Gastric	stomach
37	chr1:228344200-228348400	Weak transcription	Hela-S3	cervix
38	chr1:228344200-228349000	Weak transcription	Brain Substantia Nigra	brain
39	chr1:228344200-228352200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:228344400-228345400	Enhancers	Primary B cells from peripheral blood	blood
41	chr1:228344400-228345400	Flanking Active TSS	Thymus	Thymus
42	chr1:228344800-228345400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr1:228344800-228345400	Bivalent Enhancer	Placenta	Placenta
44	chr1:228344800-228345600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:228344800-228345800	Enhancers	Primary T cells from cord blood	blood
46	chr1:228344800-228345800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:228345000-228345800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:228345000-228345800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr1:228345200-228345400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr1:228345200-228345600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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