Variant report

Variant	esv3430376
Chromosome Location	chr1:223204529-223204991
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	chr1:223204173..223206514-chr1:223207124..223209819,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147685712	chr1:223204591-223204592	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17479483	chr1:223204628-223204629	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs557369100	chr1:223204673-223204674	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545136427	chr1:223204715-223204716	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202079250	chr1:223204775-223204776	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368926131	chr1:223204777-223204778	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386508272	chr1:223204778-223204779	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377181285	chr1:223204782-223204783	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369642791	chr1:223204783-223204784	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373989127	chr1:223204784-223204785	Flanking Active TSS Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575715133	chr1:223204806-223204807	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572964772	chr1:223204816-223204817	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540487880	chr1:223204822-223204823	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561858417	chr1:223204853-223204854	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529218078	chr1:223204857-223204858	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376725387	chr1:223204872-223204873	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543241773	chr1:223204905-223204906	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35714165	chr1:223204908-223204909	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544212314	chr1:223204943-223204944	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2789913	chr1:223204944-223204945	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149198709	chr1:223204952-223204953	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551505798	chr1:223204964-223204965	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189799460	chr1:223204965-223204966	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	21098271	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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223184800-223204800	Weak transcription	Stomach Mucosa	stomach
2	chr1:223197800-223204800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:223203200-223205400	Weak transcription	Left Ventricle	heart
4	chr1:223203200-223206800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:223203400-223204600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:223203400-223204800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:223203400-223205600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:223203400-223205600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:223203400-223206200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:223203600-223204600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr1:223203600-223205000	Enhancers	Hela-S3	cervix
12	chr1:223203800-223204600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:223203800-223205000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:223203800-223205200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:223203800-223205600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:223204000-223204600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:223204000-223204800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:223204000-223205000	Enhancers	Brain Germinal Matrix	brain
19	chr1:223204000-223205200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:223204000-223205800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:223204000-223206000	Enhancers	Fetal Muscle Leg	muscle
22	chr1:223204200-223204800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:223204200-223204800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:223204200-223205000	Enhancers	Fetal Intestine Large	intestine
25	chr1:223204200-223205200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:223204200-223205400	Genic enhancers	Right Atrium	heart
27	chr1:223204400-223205000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:223204400-223205000	Weak transcription	Right Ventricle	heart
29	chr1:223204400-223205400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:223204400-223205800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:223204400-223205800	Enhancers	Adipose Nuclei	Adipose
32	chr1:223204400-223207400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:223204600-223205800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:223204600-223208000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:223204600-223208200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:223204800-223205600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:223204800-223205800	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:223204800-223205800	Enhancers	Stomach Mucosa	stomach
39	chr1:223204800-223206000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:223204800-223206200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr1:223204800-223207400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:223204800-223208200	Enhancers	HUES64 Cell Line	embryonic stem cell

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