Variant report

Variant	esv3340706
Chromosome Location	chr1:93187980-93207933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:208)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:208 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:93204905-93205227	IMR90	lung:	n/a	n/a
2	CEBPB	chr1:93194361-93194632	A549	lung:	n/a	n/a
3	CEBPB	chr1:93194222-93194690	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr1:93204969-93205122	A549	lung:	n/a	n/a
5	CEBPB	chr1:93204969-93205204	K562	blood:	n/a	n/a
6	CEBPB	chr1:93194320-93194651	IMR90	lung:	n/a	n/a
7	CEBPB	chr1:93194218-93194686	HCT-116	colon:	n/a	n/a
8	CEBPB	chr1:93194310-93194658	A549	lung:	n/a	n/a
9	CEBPB	chr1:93189407-93189690	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:93202065-93202279	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr1:93202080-93202230	GM12864	blood:	n/a	n/a
12	CTCF	chr1:93189420-93189570	A549	lung:	n/a	n/a
13	CTCF	chr1:93202080-93202230	HA-sp	spinal cord:	n/a	n/a
14	CTCF	chr1:93202060-93202210	GM12875	blood:	n/a	n/a
15	CTCF	chr1:93202100-93202250	BE2_C	brain:	n/a	n/a
16	CTCF	chr1:93202140-93202290	GM06990	blood:	n/a	n/a
17	CTCF	chr1:93202040-93202190	GM12868	blood:	n/a	n/a
18	CTCF	chr1:93202037-93202203	Fibrobl	skin:	n/a	n/a
19	CTCF	chr1:93202000-93202150	RPTEC	kidney:	n/a	n/a
20	CTCF	chr1:93202031-93202312	IMR90	lung:	n/a	n/a
21	CTCF	chr1:93202080-93202230	GM12871	blood:	n/a	n/a
22	CTCF	chr1:93202120-93202270	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr1:93202060-93202188	GM12892	blood:	n/a	n/a
24	CTCF	chr1:93202100-93202250	GM12870	blood:	n/a	n/a
25	CTCF	chr1:93202155-93202235	GM20000	blood:	n/a	n/a
26	CTCF	chr1:93202020-93202170	HepG2	liver:	n/a	n/a
27	CTCF	chr1:93202062-93202229	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr1:93202080-93202230	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr1:93202139-93202203	GM13977	blood:	n/a	n/a
30	CTCF	chr1:93202060-93202210	HCT-116	colon:	n/a	n/a
31	CTCF	chr1:93202040-93202190	BE2_C	brain:	n/a	n/a
32	CTCF	chr1:93202100-93202250	AG10803	skin:	n/a	n/a
33	CTCF	chr1:93202020-93202170	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr1:93202080-93202230	AG04449	skin:	n/a	n/a
35	CTCF	chr1:93202120-93202270	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr1:93202180-93202330	HRE	kidney:	n/a	n/a
37	CTCF	chr1:93202070-93202338	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:93202040-93202190	HRE	kidney:	n/a	n/a
39	CTCF	chr1:93202060-93202210	GM12801	blood:	n/a	n/a
40	CTCF	chr1:93202020-93202170	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr1:93202080-93202230	HMEC	breast:	n/a	n/a
42	CTCF	chr1:93202060-93202210	GM12871	blood:	n/a	n/a
43	CTCF	chr1:93202100-93202250	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr1:93202060-93202210	HCM	heart:	n/a	n/a
45	CTCF	chr1:93202060-93202210	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr1:93202120-93202270	GM06990	blood:	n/a	n/a
47	CTCF	chr1:93202100-93202250	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr1:93202094-93202280	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr1:93202095-93202294	Medullo	brain:	n/a	n/a
50	CTCF	chr1:93199780-93199930	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93165186..93167884-chr1:93200897..93202411,2	K562	blood:
2	chr1:93203847..93205464-chr1:93207057..93209940,2	K562	blood:
3	chr1:93199006..93201048-chr1:93203256..93205414,2	K562	blood:
4	chr1:93203847..93205464-chr1:93207057..93209940,2	K562	blood:
5	chr1:93199006..93201048-chr1:93203256..93205414,2	K562	blood:
6	chr1:93204366..93207086-chr1:93298267..93300832,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL5-4	chr1:93198634-93198814	NONHSAT004464
2	lnc-RPL5-4	chr1:93197557-93198172	NONHSAT004464

No data

Variant related genes	Relation type
ENSG00000225505	TF binding region
ENSG00000122406	chromatin interactions
ENSG00000201317	chromatin interactions

Extended variants
information (count: 701 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575955565	chr1:93187990-93187991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375179438	chr1:93187996-93187997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543280711	chr1:93188066-93188067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564907300	chr1:93188077-93188078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531965826	chr1:93188079-93188080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143049114	chr1:93188125-93188126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181966268	chr1:93188127-93188128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529792776	chr1:93188188-93188189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537546323	chr1:93188214-93188215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145952682	chr1:93188220-93188221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186192740	chr1:93188245-93188246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60316380	chr1:93188338-93188339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144963106	chr1:93188379-93188380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188312190	chr1:93188513-93188514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139800098	chr1:93188560-93188561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550159285	chr1:93188577-93188578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7552873	chr1:93188591-93188592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571903098	chr1:93188609-93188610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558696725	chr1:93188644-93188645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180882742	chr1:93188650-93188651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7552986	chr1:93188716-93188717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149701125	chr1:93188766-93188767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7518233	chr1:93188823-93188824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs185791319	chr1:93188832-93188833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs191486056	chr1:93188839-93188840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554359921	chr1:93188887-93188888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570875860	chr1:93188893-93188894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7518331	chr1:93188896-93188897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575792674	chr1:93188917-93188918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369517925	chr1:93188924-93188925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs551808205	chr1:93188925-93188926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533856847	chr1:93188926-93188927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs558625783	chr1:93188937-93188938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs577051323	chr1:93188939-93188940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182859419	chr1:93188954-93188955	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559272538	chr1:93188968-93188969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs61176813	chr1:93188986-93188987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529829626	chr1:93189028-93189029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs80180605	chr1:93189113-93189114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12078923	chr1:93189131-93189132	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148422494	chr1:93189141-93189142	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186208192	chr1:93189186-93189187	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571883264	chr1:93189205-93189206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532822600	chr1:93189215-93189216	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142619666	chr1:93189255-93189256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376592209	chr1:93189281-93189282	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6604012	chr1:93189298-93189299	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536356913	chr1:93189301-93189302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs542846472	chr1:93189302-93189303	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs569206146	chr1:93189384-93189385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93098400-93205400	Weak transcription	NHLF	lung
2	chr1:93123600-93213400	Weak transcription	Gastric	stomach
3	chr1:93155800-93213400	Weak transcription	Lung	lung
4	chr1:93161000-93197400	Weak transcription	Primary B cells from cord blood	blood
5	chr1:93161000-93197800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:93161000-93199000	Weak transcription	Left Ventricle	heart
7	chr1:93163800-93190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:93170200-93189800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:93174400-93202000	Weak transcription	Fetal Heart	heart
10	chr1:93175800-93190200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:93175800-93199400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:93177800-93197600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:93181800-93196600	Weak transcription	HepG2	liver
14	chr1:93182600-93200000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:93185400-93194200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:93186600-93205600	Weak transcription	Ovary	ovary
17	chr1:93186800-93197800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:93186800-93213400	Weak transcription	K562	blood
19	chr1:93187600-93190400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:93188000-93190200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:93188400-93202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:93188400-93205400	Weak transcription	Small Intestine	intestine
23	chr1:93188600-93192400	Weak transcription	Fetal Kidney	kidney
24	chr1:93188600-93199200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:93188600-93203800	Weak transcription	HMEC	breast
26	chr1:93188800-93191000	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr1:93188800-93201000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:93189000-93197800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:93189000-93203800	Weak transcription	Hela-S3	cervix
30	chr1:93189000-93213400	Weak transcription	Fetal Lung	lung
31	chr1:93189200-93191000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:93189400-93192800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:93189400-93204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:93189400-93206000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:93189800-93191000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:93189800-93199200	Weak transcription	NH-A	brain
37	chr1:93190000-93190200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr1:93190000-93190400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:93190000-93190400	ZNF genes & repeats	Fetal Stomach	stomach
40	chr1:93190000-93191000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:93190000-93221800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:93190200-93190400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:93190200-93191200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:93190200-93191200	Strong transcription	Fetal Intestine Large	intestine
45	chr1:93190200-93198000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:93190200-93220000	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:93190400-93190800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:93190400-93198400	Weak transcription	Fetal Stomach	stomach
49	chr1:93190400-93199200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:93190600-93197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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