Variant report

Variant	esv1793594
Chromosome Location	chr1:86833653-86858957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:252)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:86845967-86846318	GM12878	blood:	n/a	n/a
2	CBX3	chr1:86843060-86843358	K562	blood:	n/a	n/a
3	CBX3	chr1:86843074-86843437	K562	blood:	n/a	n/a
4	CEBPB	chr1:86844570-86844826	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:86836535-86836833	K562	blood:	n/a	chr1:86836660-86836669 chr1:86836660-86836671
6	CEBPB	chr1:86844520-86844854	A549	lung:	n/a	n/a
7	CEBPB	chr1:86836580-86836823	HepG2	liver:	n/a	chr1:86836660-86836669 chr1:86836660-86836671
8	CEBPB	chr1:86854566-86855005	IMR90	lung:	n/a	chr1:86854863-86854876 chr1:86854738-86854749
9	CEBPB	chr1:86844524-86844880	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:86836478-86836842	IMR90	lung:	n/a	chr1:86836660-86836669 chr1:86836660-86836671
11	CEBPB	chr1:86844521-86844826	HepG2	liver:	n/a	n/a
12	CTCF	chr1:86846040-86846190	GM12871	blood:	n/a	n/a
13	CTCF	chr1:86846020-86846170	AG09309	skin:	n/a	n/a
14	CTCF	chr1:86846020-86846170	GM12865	blood:	n/a	n/a
15	CTCF	chr1:86845952-86846268	A549	lung:	n/a	n/a
16	CTCF	chr1:86845755-86846525	A549	lung:	n/a	n/a
17	CTCF	chr1:86846080-86846230	GM12873	blood:	n/a	n/a
18	CTCF	chr1:86845972-86846295	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr1:86846060-86846210	GM12870	blood:	n/a	n/a
20	CTCF	chr1:86846040-86846190	AG09319	gingival:	n/a	n/a
21	CTCF	chr1:86846038-86846201	NHEK	skin:	n/a	n/a
22	CTCF	chr1:86846080-86846230	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr1:86846100-86846250	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr1:86846011-86846245	Gliobla	brain:	n/a	n/a
25	CTCF	chr1:86846020-86846170	HMEC	breast:	n/a	n/a
26	CTCF	chr1:86846004-86846169	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr1:86846040-86846190	HPF	lung:	n/a	n/a
28	CTCF	chr1:86846060-86846210	GM12875	blood:	n/a	n/a
29	CTCF	chr1:86845977-86846305	A549	lung:	n/a	n/a
30	CTCF	chr1:86846040-86846190	GM06990	blood:	n/a	n/a
31	CTCF	chr1:86846060-86846210	K562	blood:	n/a	n/a
32	CTCF	chr1:86846020-86846170	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr1:86846040-86846190	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr1:86846040-86846190	HCT-116	colon:	n/a	n/a
35	CTCF	chr1:86846055-86846197	A549	lung:	n/a	n/a
36	CTCF	chr1:86846020-86846170	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr1:86846028-86846235	LNCaP	prostate:	n/a	n/a
38	CTCF	chr1:86846009-86846274	K562	blood:	n/a	n/a
39	CTCF	chr1:86846020-86846170	GM12866	blood:	n/a	n/a
40	CTCF	chr1:86846451-86846453	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr1:86846080-86846230	WI-38	lung:	n/a	n/a
42	CTCF	chr1:86846040-86846190	BJ	skin:	n/a	n/a
43	CTCF	chr1:86846012-86846268	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr1:86846080-86846230	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr1:86846029-86846241	GM13976	blood:	n/a	n/a
46	CTCF	chr1:86846053-86846188	GM19239	blood:	n/a	n/a
47	CTCF	chr1:86846080-86846230	GM12864	blood:	n/a	n/a
48	CTCF	chr1:86846040-86846190	HRE	kidney:	n/a	n/a
49	CTCF	chr1:86845980-86846130	RPTEC	kidney:	n/a	n/a
50	CTCF	chr1:86846100-86846250	RPTEC	kidney:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:86845700..86846558-chr1:86939625..86940177,2	MCF-7	breast:
2	chr1:86846140..86846692-chr1:86967603..86968149,2	MCF-7	breast:
3	chr1:86847598..86849300-chr1:86857540..86859309,2	MCF-7	breast:
4	chr1:86856582..86859443-chr1:86866472..86868164,2	K562	blood:
5	chr1:86834879..86837302-chr1:86845447..86847463,2	K562	blood:
6	chr1:86845689..86846553-chr1:86965309..86966983,5	MCF-7	breast:
7	chr1:86845633..86846612-chr1:86965720..86966238,3	K562	blood:
8	chr1:86825572..86828967-chr1:86833765..86835448,3	K562	blood:
9	chr1:86849218..86851820-chr1:86852158..86853720,2	K562	blood:
10	chr1:86858845..86860398-chr1:86869035..86871244,2	K562	blood:
11	chr1:86854491..86856100-chr1:86858979..86861323,2	K562	blood:

No data

Variant related genes	Relation type
ODF2L	TF binding region
ENSG00000231349	chromatin interactions
ENSG00000122417	chromatin interactions

Extended variants
information (count: 859 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs272504	chr1:86833653-86833654	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547434524	chr1:86833656-86833657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570595182	chr1:86833687-86833688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12043873	chr1:86833699-86833700	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116070883	chr1:86833738-86833739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72949884	chr1:86833809-86833810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538488237	chr1:86833839-86833840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554987962	chr1:86833856-86833857	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs272505	chr1:86833884-86833885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539281025	chr1:86833891-86833892	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527739196	chr1:86833947-86833948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370365078	chr1:86834013-86834014	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568364628	chr1:86834065-86834066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115380240	chr1:86834139-86834140	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534214770	chr1:86834245-86834246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576972116	chr1:86834322-86834323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75376884	chr1:86834369-86834370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535564252	chr1:86834372-86834373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562503169	chr1:86834405-86834406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576362249	chr1:86834406-86834407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542078368	chr1:86834418-86834419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561850545	chr1:86834531-86834532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527464618	chr1:86834532-86834533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555455195	chr1:86834552-86834553	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575319772	chr1:86834567-86834568	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34106163	chr1:86834603-86834604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200030127	chr1:86834643-86834644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368201032	chr1:86834651-86834652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564164370	chr1:86834680-86834681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147839591	chr1:86834768-86834769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549910354	chr1:86834790-86834791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148880717	chr1:86834924-86834925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111393682	chr1:86834942-86834943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568690771	chr1:86834978-86834979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12038844	chr1:86835068-86835069	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs143534464	chr1:86835082-86835083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553986226	chr1:86835123-86835124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553591949	chr1:86835207-86835208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558195856	chr1:86835240-86835241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148027595	chr1:86835272-86835273	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34532288	chr1:86835273-86835274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76809044	chr1:86835284-86835285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181432971	chr1:86835366-86835367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576349387	chr1:86835392-86835393	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185521727	chr1:86835401-86835402	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189940337	chr1:86835418-86835419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs180840763	chr1:86835574-86835575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150111231	chr1:86835583-86835584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560761079	chr1:86835720-86835721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77773713	chr1:86835777-86835778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:86813800-86836400	Weak transcription	Lung	lung
3	chr1:86813800-86842600	Weak transcription	Fetal Heart	heart
4	chr1:86815200-86860200	Weak transcription	Fetal Brain Male	brain
5	chr1:86816000-86842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:86817200-86843800	Weak transcription	Small Intestine	intestine
7	chr1:86817600-86843000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:86817800-86835400	Weak transcription	Esophagus	oesophagus
9	chr1:86817800-86840000	Weak transcription	GM12878-XiMat	blood
10	chr1:86817800-86842400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:86818000-86842600	Weak transcription	Fetal Intestine Small	intestine
12	chr1:86818000-86843200	Weak transcription	Pancreas	Pancrea
13	chr1:86818000-86851600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:86818200-86841000	Weak transcription	Fetal Kidney	kidney
15	chr1:86819000-86838400	Weak transcription	NHDF-Ad	bronchial
16	chr1:86819800-86839400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:86819800-86839400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:86819800-86840200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:86819800-86840200	Weak transcription	HMEC	breast
20	chr1:86819800-86842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:86819800-86842600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:86819800-86843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:86819800-86843000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:86820200-86840200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:86820200-86841200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:86820200-86842600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:86820200-86843400	Weak transcription	Left Ventricle	heart
28	chr1:86820200-86854400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:86820200-86854800	Weak transcription	HSMMtube	muscle
30	chr1:86820400-86835000	Weak transcription	HSMM	muscle
31	chr1:86820400-86838400	Weak transcription	Primary B cells from cord blood	blood
32	chr1:86820400-86838400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:86820400-86838400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:86820400-86838600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:86820400-86839400	Weak transcription	NH-A	brain
36	chr1:86820400-86842400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:86820400-86842800	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:86820400-86842800	Weak transcription	Placenta	Placenta
39	chr1:86820400-86845400	Weak transcription	Hela-S3	cervix
40	chr1:86820400-86846200	Weak transcription	NHLF	lung
41	chr1:86820400-86846400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:86820400-86847000	Weak transcription	Liver	Liver
43	chr1:86820400-86848000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:86820400-86860200	Weak transcription	NHEK	skin
45	chr1:86820600-86838400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:86820600-86839400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:86820600-86839400	Weak transcription	Osteobl	bone
48	chr1:86820600-86839600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:86820600-86839600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:86820600-86840000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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