Variant report

Variant	esv3415950
Chromosome Location	chr1:228103129-228105627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228094983..228097029-chr1:228105421..228107504,2	K562	blood:
2	chr1:228102020..228104817-chr1:228104964..228106972,3	K562	blood:
3	chr1:228104214..228105732-chr1:228108237..228110826,2	MCF-7	breast:
4	chr1:228102507..228105005-chr1:228106646..228109537,2	MCF-7	breast:
5	chr1:228075309..228077873-chr1:228100630..228103471,2	K562	blood:
6	chr1:228102020..228104817-chr1:228104964..228106972,3	K562	blood:
7	chr1:227926751..227929436-chr1:228101805..228104001,2	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536608353	chr1:228103130-228103131	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs77960145	chr1:228103159-228103160	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs34780873	chr1:228103161-228103162	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs543294711	chr1:228103182-228103183	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs116112642	chr1:228103211-228103212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs535847034	chr1:228103221-228103222	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs577081548	chr1:228103277-228103278	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs541141350	chr1:228103282-228103283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs559446570	chr1:228103295-228103296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs529658456	chr1:228103316-228103317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs373008321	chr1:228103326-228103327	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs368893610	chr1:228103344-228103345	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs532015618	chr1:228103362-228103363	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs371362405	chr1:228103372-228103373	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs569169014	chr1:228103373-228103374	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs549988853	chr1:228103392-228103393	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs116194767	chr1:228103393-228103394	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs10799459	chr1:228103428-228103429	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs557795236	chr1:228103434-228103435	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs547495096	chr1:228103440-228103441	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs370791168	chr1:228103457-228103458	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs565789118	chr1:228103484-228103485	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs536298643	chr1:228103493-228103494	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs554941954	chr1:228103495-228103496	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs71648447	chr1:228103502-228103503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540074809	chr1:228103503-228103504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs138095644	chr1:228103520-228103521	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs558855197	chr1:228103527-228103528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs182516840	chr1:228103529-228103530	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs541178055	chr1:228103530-228103531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs186827312	chr1:228103531-228103532	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs574465215	chr1:228103577-228103578	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs573352332	chr1:228103596-228103597	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs541493507	chr1:228103637-228103638	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs75573638	chr1:228103666-228103667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs34418349	chr1:228103672-228103673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562472809	chr1:228103685-228103686	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs565197331	chr1:228103694-228103695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs371068775	chr1:228103699-228103700	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs532571234	chr1:228103701-228103702	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs547584061	chr1:228103702-228103703	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs559635208	chr1:228103705-228103706	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs531232416	chr1:228103706-228103707	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs536417820	chr1:228103730-228103731	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs548324196	chr1:228103732-228103733	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs149524539	chr1:228103750-228103751	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs1009658	chr1:228103781-228103782	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs72752195	chr1:228103784-228103785	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs191587222	chr1:228103807-228103808	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534854128	chr1:228103808-228103809	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228075600-228109200	Weak transcription	Right Atrium	heart
2	chr1:228096400-228104400	Weak transcription	Gastric	stomach
3	chr1:228096800-228104000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:228098600-228108600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:228098600-228117600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
7	chr1:228099200-228108400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:228099400-228108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:228099400-228122400	Weak transcription	HSMM	muscle
10	chr1:228100200-228103400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:228100200-228105600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:228100400-228104000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:228100400-228104000	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:228100400-228104200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:228100400-228105800	Enhancers	Fetal Stomach	stomach
16	chr1:228100600-228103200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:228100600-228104000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:228100600-228104000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:228100600-228104000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:228100600-228105000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:228100600-228105400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:228100600-228105800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:228100600-228108200	Enhancers	Fetal Muscle Leg	muscle
24	chr1:228100800-228104800	Enhancers	Esophagus	oesophagus
25	chr1:228100800-228105600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:228101000-228103200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:228101000-228103800	Enhancers	Fetal Intestine Large	intestine
28	chr1:228101200-228103600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:228101200-228104400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:228101200-228110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:228101400-228104000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:228101400-228104000	Weak transcription	Brain Angular Gyrus	brain
33	chr1:228101400-228104400	Weak transcription	Fetal Kidney	kidney
34	chr1:228101400-228105800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:228101400-228111000	Weak transcription	Fetal Brain Female	brain
36	chr1:228101600-228103800	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:228101600-228105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:228101800-228104000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:228102000-228103200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr1:228102000-228105400	Weak transcription	Right Ventricle	heart
41	chr1:228102200-228103800	Bivalent Enhancer	Placenta	Placenta
42	chr1:228102200-228105200	Enhancers	HMEC	breast
43	chr1:228102400-228103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:228102400-228103200	Weak transcription	Brain Anterior Caudate	brain
45	chr1:228102400-228103800	Weak transcription	Brain Substantia Nigra	brain
46	chr1:228102400-228104400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:228102400-228106800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:228102400-228108600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:228102600-228103600	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:228102600-228103600	Weak transcription	Brain Inferior Temporal Lobe	brain

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