Variant report

Variant	esv3391638
Chromosome Location	chr1:228108379-228111177
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228111067..228112932-chr1:228117820..228119468,2	MCF-7	breast:
2	chr1:227652761..227655179-chr1:228106807..228109006,2	MCF-7	breast:
3	chr1:228102507..228105005-chr1:228106646..228109537,2	MCF-7	breast:
4	chr1:228110564..228113344-chr1:228642639..228644578,2	K562	blood:
5	chr1:227935783..227938114-chr1:228110328..228112224,2	K562	blood:
6	chr1:228106073..228108518-chr1:228109587..228111859,2	K562	blood:
7	chr1:227912717..227914505-chr1:228107009..228109578,2	K562	blood:
8	chr1:228106073..228108518-chr1:228109587..228111859,2	K562	blood:
9	chr1:228104214..228105732-chr1:228108237..228110826,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143740	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112796255	chr1:228108388-228108389	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536762245	chr1:228108403-228108404	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537286696	chr1:228108406-228108407	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558760946	chr1:228108463-228108464	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577081493	chr1:228108490-228108491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191025220	chr1:228108512-228108513	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113092452	chr1:228108528-228108529	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113789425	chr1:228108579-228108580	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34253719	chr1:228108584-228108585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113839458	chr1:228108640-228108641	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs112364764	chr1:228108660-228108661	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs376527249	chr1:228108661-228108662	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs567492190	chr1:228108685-228108686	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs141809410	chr1:228108687-228108688	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs10916244	chr1:228108703-228108704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs77625174	chr1:228108709-228108710	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs376276716	chr1:228108740-228108741	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs113399506	chr1:228108779-228108780	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs181691772	chr1:228108780-228108781	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs547880492	chr1:228108783-228108784	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs559544290	chr1:228108787-228108788	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs186038775	chr1:228108796-228108797	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs112849405	chr1:228108897-228108898	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3795767	chr1:228108932-228108933	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537362801	chr1:228108962-228108963	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552463586	chr1:228108965-228108966	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570632792	chr1:228109013-228109014	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534469836	chr1:228109028-228109029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553077813	chr1:228109035-228109036	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568052668	chr1:228109042-228109043	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs199847456	chr1:228109070-228109071	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191266445	chr1:228109071-228109072	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544593908	chr1:228109072-228109073	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556517743	chr1:228109073-228109074	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574866294	chr1:228109074-228109075	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113266227	chr1:228109111-228109112	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs187623500	chr1:228109113-228109114	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35718701	chr1:228109137-228109138	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116334651	chr1:228109169-228109170	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112746139	chr1:228109170-228109171	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530125415	chr1:228109173-228109174	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113317497	chr1:228109186-228109187	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373890045	chr1:228109193-228109194	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368044740	chr1:228109209-228109210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145836311	chr1:228109247-228109248	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201122899	chr1:228109252-228109253	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370630795	chr1:228109253-228109254	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552502207	chr1:228109286-228109287	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368001551	chr1:228109313-228109314	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201136374	chr1:228109320-228109321	Weak transcription Strong transcription 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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228075600-228109200	Weak transcription	Right Atrium	heart
2	chr1:228098600-228108600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:228098600-228117600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
5	chr1:228099200-228108400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:228099400-228108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:228099400-228122400	Weak transcription	HSMM	muscle
8	chr1:228101200-228110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:228101400-228111000	Weak transcription	Fetal Brain Female	brain
10	chr1:228102400-228108600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:228102600-228108400	Enhancers	Fetal Muscle Trunk	muscle
12	chr1:228103800-228113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:228103800-228117000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:228104200-228111000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:228104400-228108600	Weak transcription	Lung	lung
16	chr1:228104600-228108400	Weak transcription	Gastric	stomach
17	chr1:228104600-228110400	Weak transcription	Fetal Lung	lung
18	chr1:228104800-228108400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:228104800-228108600	Weak transcription	Esophagus	oesophagus
20	chr1:228105200-228108400	Weak transcription	Spleen	Spleen
21	chr1:228105200-228108800	Weak transcription	HMEC	breast
22	chr1:228105200-228112400	Weak transcription	Brain Germinal Matrix	brain
23	chr1:228105200-228112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:228105400-228108600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:228105600-228108400	Weak transcription	Ovary	ovary
26	chr1:228105600-228108600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:228105600-228110200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:228106200-228108400	Weak transcription	Right Ventricle	heart
29	chr1:228106600-228121400	Weak transcription	Psoas Muscle	Psoas
30	chr1:228106800-228108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:228106800-228109000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:228106800-228110200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr1:228107200-228109000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:228107200-228109000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:228107400-228109200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:228107400-228109200	Strong transcription	Pancreas	Pancrea
37	chr1:228107600-228109600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:228107600-228110000	Weak transcription	Brain Angular Gyrus	brain
39	chr1:228107600-228112200	Weak transcription	Fetal Heart	heart
40	chr1:228107800-228108400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:228107800-228109000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:228107800-228110000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:228107800-228111400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:228107800-228134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:228108000-228108400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:228108000-228109600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:228108000-228110000	Strong transcription	Fetal Stomach	stomach
48	chr1:228108000-228110200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:228108000-228110600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:228108200-228108600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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