Variant report

Variant	esv3417654
Chromosome Location	chr1:94341407-94341891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:94341236-94341418	H1-hESC	embryonic stem cell:	n/a	n/a
2	PAX5	chr1:94341762-94342067	GM12878	blood:	n/a	n/a
3	PAX5	chr1:94341820-94342074	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:94341800-94342495	K562	blood:	n/a	n/a
5	POLR2A	chr1:94341843-94342464	A549	lung:	n/a	n/a
6	POLR2A	chr1:94341850-94342321	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:94341699-94343563	K562	blood:	n/a	n/a
8	POLR2A	chr1:94341781-94342397	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:94340612..94342966-chr1:94406740..94409371,2	K562	blood:
2	chr1:94340857..94342610-chr1:94343304..94345726,2	K562	blood:
3	chr1:94340793..94342610-chr1:94344226..94345915,2	K562	blood:
4	chr1:94336837..94340766-chr1:94341847..94346212,6	K562	blood:
5	chr1:94332079..94335914-chr1:94341026..94344306,4	K562	blood:
6	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
7	chr1:93811555..93814046-chr1:94339710..94342283,2	K562	blood:
8	chr1:94340990..94343514-chr1:94369991..94373741,3	K562	blood:
9	chr1:94341311..94342954-chr1:94373735..94375805,2	MCF-7	breast:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
ENSG00000067334	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000023909	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000223745	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572167310	chr1:94341418-94341419	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs542615132	chr1:94341427-94341428	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs138007812	chr1:94341461-94341462	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs201397149	chr1:94341489-94341490	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs79346179	chr1:94341504-94341505	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs543335593	chr1:94341518-94341519	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368980094	chr1:94341527-94341528	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372989592	chr1:94341532-94341533	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376078015	chr1:94341538-94341539	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs369700837	chr1:94341546-94341547	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs374083730	chr1:94341553-94341554	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs565116200	chr1:94341556-94341557	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs532226595	chr1:94341560-94341561	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs541190454	chr1:94341579-94341580	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs115740577	chr1:94341592-94341593	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs367582608	chr1:94341607-94341608	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs377623971	chr1:94341624-94341625	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529766177	chr1:94341627-94341628	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs371303952	chr1:94341630-94341631	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374321489	chr1:94341635-94341636	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs377404149	chr1:94341638-94341639	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs370390060	chr1:94341639-94341640	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs374104271	chr1:94341650-94341651	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs202052711	chr1:94341659-94341660	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs527953178	chr1:94341677-94341678	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs181690668	chr1:94341678-94341679	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs150366014	chr1:94341679-94341680	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs548251679	chr1:94341686-94341687	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs569656135	chr1:94341687-94341688	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532061793	chr1:94341689-94341690	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs376904544	chr1:94341690-94341691	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370427346	chr1:94341691-94341692	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs201333324	chr1:94341692-94341693	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs141057597	chr1:94341694-94341695	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs571876540	chr1:94341738-94341739	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs7542162	chr1:94341801-94341802	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs202060541	chr1:94341825-94341826	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs553901957	chr1:94341839-94341840	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs542667851	chr1:94341863-94341864	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs536336554	chr1:94341882-94341883	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs554576688	chr1:94341891-94341892	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94329800-94343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94330600-94343600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:94332400-94342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:94332800-94341600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr1:94332800-94341600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:94332800-94341800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:94332800-94341800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:94332800-94341800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:94332800-94343200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:94332800-94343200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:94333000-94341600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:94333000-94342000	Strong transcription	Fetal Brain Female	brain
14	chr1:94333200-94341600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:94333200-94341600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:94333200-94343200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:94333400-94341600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:94333600-94341800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:94333800-94341600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:94333800-94343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:94334000-94341600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:94334000-94341600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:94334000-94341600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:94334000-94341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:94334000-94341800	Strong transcription	Fetal Kidney	kidney
26	chr1:94334000-94341800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:94334000-94342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:94334000-94343000	Strong transcription	Fetal Thymus	thymus
29	chr1:94334000-94343400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:94334200-94341600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:94334200-94341600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:94334200-94341600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:94334200-94341600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:94334200-94341600	Strong transcription	Adipose Nuclei	Adipose
35	chr1:94334200-94341600	Strong transcription	Liver	Liver
36	chr1:94334200-94341600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr1:94334200-94341800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:94334200-94341800	Strong transcription	Brain Germinal Matrix	brain
39	chr1:94334200-94341800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr1:94334200-94342000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:94334200-94343200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:94334200-94343200	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr1:94334200-94343200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:94334200-94343200	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:94334200-94343400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:94334200-94343400	Strong transcription	Placenta	Placenta
47	chr1:94334400-94341600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:94334400-94341800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:94334400-94341800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:94334400-94341800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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