Variant report

Variant	esv1845267
Chromosome Location	chr1:169191860-169240975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:169209995-169210076	K562	blood:	n/a	n/a
2	ARID3A	chr1:169235297-169235803	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:169219638-169220576	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:169240319-169240724	K562	blood:	n/a	n/a
5	ATF1	chr1:169210187-169210271	K562	blood:	n/a	n/a
6	ATF1	chr1:169240334-169240757	K562	blood:	n/a	n/a
7	BHLHE40	chr1:169240319-169240648	K562	blood:	n/a	n/a
8	CEBPB	chr1:169219114-169219471	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr1:169217062-169217242	IMR90	lung:	n/a	chr1:169217167-169217178
10	CEBPB	chr1:169217146-169217217	HepG2	liver:	n/a	chr1:169217167-169217178
11	CEBPB	chr1:169229862-169230008	K562	blood:	n/a	chr1:169229886-169229899 chr1:169229888-169229897 chr1:169229888-169229897 chr1:169229886-169229897 chr1:169229888-169229897 chr1:169229887-169229898 chr1:169229888-169229897
12	CEBPB	chr1:169195001-169195136	HepG2	liver:	n/a	chr1:169195073-169195084
13	CEBPB	chr1:169209637-169210183	HCT-116	colon:	n/a	n/a
14	CEBPB	chr1:169240163-169240324	K562	blood:	n/a	chr1:169240208-169240219 chr1:169240208-169240219 chr1:169240206-169240219 chr1:169240206-169240219
15	CEBPB	chr1:169229825-169229981	HepG2	liver:	n/a	chr1:169229886-169229899 chr1:169229888-169229897 chr1:169229888-169229897 chr1:169229886-169229897 chr1:169229888-169229897 chr1:169229887-169229898 chr1:169229888-169229897
16	CTCF	chr1:169240440-169240590	HCM	heart:	n/a	n/a
17	CTCF	chr1:169240585-169240694	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr1:169240482-169240767	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:169240480-169240630	RPTEC	kidney:	n/a	n/a
20	CTCF	chr1:169240552-169240712	HepG2	liver:	n/a	n/a
21	CTCF	chr1:169240543-169240697	MCF-7	breast:	n/a	n/a
22	CTCF	chr1:169240500-169240650	GM12872	blood:	n/a	n/a
23	CTCF	chr1:169240620-169240770	RPTEC	kidney:	n/a	n/a
24	CTCF	chr1:169240550-169240706	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr1:169240520-169240670	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr1:169240402-169240751	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:169240520-169240670	HCFaa	heart:	n/a	n/a
28	CTCF	chr1:169240560-169240710	HVMF	connective:	n/a	n/a
29	CTCF	chr1:169240580-169240730	HPF	lung:	n/a	n/a
30	CTCF	chr1:169240500-169240650	HVMF	connective:	n/a	n/a
31	CTCF	chr1:169240460-169240610	HCM	heart:	n/a	n/a
32	CTCF	chr1:169240540-169240690	HPF	lung:	n/a	n/a
33	CTCF	chr1:169240440-169240590	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr1:169205520-169205670	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr1:169240560-169240710	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr1:169240581-169240651	LNCaP	prostate:	n/a	n/a
37	CTCF	chr1:169240540-169240690	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr1:169240525-169240760	HepG2	liver:	n/a	n/a
39	CTCF	chr1:169240407-169240813	K562	blood:	n/a	n/a
40	CTCF	chr1:169240538-169240709	K562	blood:	n/a	n/a
41	CTCF	chr1:169240520-169240670	HEK293	kidney:	n/a	n/a
42	CTCF	chr1:169240537-169240716	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr1:169240600-169240750	HRE	kidney:	n/a	n/a
44	CTCF	chr1:169240520-169240670	HMF	breast:	n/a	n/a
45	CTCF	chr1:169240480-169240630	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr1:169215445-169215504	Fibrobl	skin:	n/a	n/a
47	CTCF	chr1:169240480-169240630	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:169240536-169240729	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:169240535-169240537	K562	blood:	n/a	n/a
50	CTCF	chr1:169240470-169240831	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:169193895..169196797-chr1:169197836..169199358,2	MCF-7	breast:
2	chr1:169192162..169194718-chr1:169212473..169215131,2	K562	blood:
3	chr1:169193895..169196797-chr1:169197836..169199358,2	MCF-7	breast:
4	chr1:169208518..169210284-chr1:169213594..169216583,2	K562	blood:
5	chr1:169210444..169212042-chr1:169215118..169217438,2	K562	blood:
6	chr1:169208518..169210284-chr1:169213594..169216583,2	K562	blood:
7	chr1:169210444..169212042-chr1:169215118..169217438,2	K562	blood:
8	chr1:169201903..169204438-chr1:169206741..169208381,2	MCF-7	breast:
9	chr1:169192162..169194718-chr1:169212473..169215131,2	K562	blood:
10	chr1:169210215..169210976-chr2:173891921..173892590,2	MCF-7	breast:
11	chr1:169201903..169204438-chr1:169206741..169208381,2	MCF-7	breast:

Variant related genes	Relation type
NME7	TF binding region

Extended variants
information (count: 1723 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1723 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1208377	chr1:169191860-169191861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182428724	chr1:169191863-169191864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538431264	chr1:169191885-169191886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556434756	chr1:169191909-169191910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12071224	chr1:169191945-169191946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538936601	chr1:169191989-169191990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116680840	chr1:169192018-169192019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76259987	chr1:169192075-169192076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374645419	chr1:169192090-169192091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543185951	chr1:169192095-169192096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12145969	chr1:169192110-169192111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs576415154	chr1:169192176-169192177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544407592	chr1:169192209-169192210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562506848	chr1:169192213-169192214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12735330	chr1:169192278-169192279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112337571	chr1:169192292-169192293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559748068	chr1:169192322-169192323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527280466	chr1:169192343-169192344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116792867	chr1:169192378-169192379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185772954	chr1:169192395-169192396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191120205	chr1:169192399-169192400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12756556	chr1:169192431-169192432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538848897	chr1:169192458-169192459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573608268	chr1:169192529-169192530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114378480	chr1:169192549-169192550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375467854	chr1:169192600-169192601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571726310	chr1:169192601-169192602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541425803	chr1:169192625-169192626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539377115	chr1:169192744-169192745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182613356	chr1:169192755-169192756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4656664	chr1:169192760-169192761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs536653142	chr1:169192774-169192775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74734624	chr1:169192775-169192776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576493518	chr1:169192798-169192799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74942996	chr1:169192817-169192818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74125216	chr1:169192820-169192821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs118027814	chr1:169192859-169192860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544941196	chr1:169192890-169192891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560010479	chr1:169192960-169192961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371130861	chr1:169192961-169192962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35606300	chr1:169192987-169192988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369704336	chr1:169193012-169193013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527534949	chr1:169193022-169193023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6427179	chr1:169193024-169193025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202096714	chr1:169193025-169193026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2901030	chr1:169193026-169193027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs718032	chr1:169193028-169193029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549596353	chr1:169193030-169193031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571851924	chr1:169193032-169193033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs718031	chr1:169193087-169193088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169130400-169195200	Weak transcription	Pancreas	Pancrea
2	chr1:169172400-169207600	Weak transcription	Esophagus	oesophagus
3	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:169173200-169202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:169176600-169206200	Weak transcription	Aorta	Aorta
6	chr1:169177400-169207400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:169180000-169210000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:169180600-169206200	Weak transcription	Left Ventricle	heart
9	chr1:169182000-169201000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:169182800-169192000	Weak transcription	Small Intestine	intestine
11	chr1:169182800-169205400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:169184000-169198800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:169184400-169206200	Weak transcription	Lung	lung
14	chr1:169184600-169200600	Weak transcription	Fetal Stomach	stomach
15	chr1:169184800-169207400	Weak transcription	Ovary	ovary
16	chr1:169185000-169200800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:169185800-169194400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:169187600-169200200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:169187600-169207800	Weak transcription	Primary T cells from cord blood	blood
20	chr1:169187800-169194000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:169187800-169211800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:169191600-169192000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:169191600-169198400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:169192000-169192600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:169192200-169209600	Weak transcription	NHEK	skin
26	chr1:169192400-169210000	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:169192600-169202800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:169193000-169196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:169193400-169193600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:169194000-169194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:169194000-169210000	Weak transcription	NHDF-Ad	bronchial
32	chr1:169194400-169194800	Enhancers	Primary B cells from cord blood	blood
33	chr1:169194400-169194800	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:169194400-169194800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:169194600-169194800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr1:169194600-169198400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:169194800-169200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:169194800-169207400	Weak transcription	Primary B cells from cord blood	blood
39	chr1:169194800-169214000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:169195200-169207600	Weak transcription	Fetal Lung	lung
41	chr1:169195400-169207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:169196000-169196800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:169196400-169196800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:169196400-169198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:169196600-169199400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:169196800-169197000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:169196800-169197200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:169197000-169200600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:169197000-169204600	Weak transcription	HUVEC	blood vessel
50	chr1:169197200-169206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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