Variant report

Variant	nsv967181
Chromosome Location	chr3:75765976-75817123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1285)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:75770122-75770154	HepG2	liver:	n/a	n/a
2	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
3	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
4	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
5	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
6	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
7	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
8	ATF1	chr3:75765400-75768808	K562	blood:	n/a	n/a
9	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
10	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
11	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
12	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
13	ATF3	chr3:75788958-75789896	K562	blood:	n/a	n/a
14	BACH1	chr3:75787478-75787482	K562	blood:	n/a	n/a
15	BATF	chr3:75816037-75816335	GM12878	blood:	n/a	n/a
16	BATF	chr3:75799350-75799605	GM12878	blood:	n/a	n/a
17	BATF	chr3:75801643-75802130	GM12878	blood:	n/a	n/a
18	BATF	chr3:75812381-75812837	GM12878	blood:	n/a	n/a
19	BATF	chr3:75798934-75799129	GM12878	blood:	n/a	n/a
20	BATF	chr3:75802230-75802905	GM12878	blood:	n/a	n/a
21	BATF	chr3:75815203-75815471	GM12878	blood:	n/a	n/a
22	BATF	chr3:75809554-75809812	GM12878	blood:	n/a	n/a
23	BATF	chr3:75813723-75814100	GM12878	blood:	n/a	n/a
24	BATF	chr3:75799266-75799555	GM12878	blood:	n/a	n/a
25	BATF	chr3:75804084-75804405	GM12878	blood:	n/a	n/a
26	BATF	chr3:75813698-75814051	GM12878	blood:	n/a	n/a
27	BCL11A	chr3:75798905-75799142	GM12878	blood:	n/a	n/a
28	BCL11A	chr3:75813789-75814021	GM12878	blood:	n/a	n/a
29	BCL11A	chr3:75799238-75799590	GM12878	blood:	n/a	n/a
30	BCL11A	chr3:75804074-75804402	GM12878	blood:	n/a	n/a
31	BCL11A	chr3:75813654-75814094	GM12878	blood:	n/a	n/a
32	BCL11A	chr3:75812640-75812857	GM12878	blood:	n/a	n/a
33	BCL11A	chr3:75801736-75802185	GM12878	blood:	n/a	n/a
34	BCL11A	chr3:75812346-75812919	GM12878	blood:	n/a	chr3:75812859-75812868
35	BCL11A	chr3:75816754-75816919	GM12878	blood:	n/a	n/a
36	BCL11A	chr3:75808192-75808432	GM12878	blood:	n/a	n/a
37	BCL11A	chr3:75809604-75809903	GM12878	blood:	n/a	n/a
38	BCL11A	chr3:75806051-75806225	GM12878	blood:	n/a	n/a
39	BCL11A	chr3:75809620-75809747	GM12878	blood:	n/a	n/a
40	BCL3	chr3:75768536-75768746	K562	blood:	n/a	n/a
41	BDP1	chr3:75793811-75794420	Hela-S3	cervix:	n/a	n/a
42	BDP1	chr3:75786511-75788383	Hela-S3	cervix:	n/a	n/a
43	BDP1	chr3:75787581-75788623	K562	blood:	n/a	n/a
44	BHLHE40	chr3:75812595-75812925	HepG2	liver:	n/a	n/a
45	BHLHE40	chr3:75807495-75807613	K562	blood:	n/a	n/a
46	BHLHE40	chr3:75804011-75804470	HepG2	liver:	n/a	n/a
47	BRCA1	chr3:75779149-75779672	GM12878	blood:	n/a	n/a
48	BRCA1	chr3:75785759-75786113	GM12878	blood:	n/a	n/a
49	BRCA1	chr3:75799768-75800264	HepG2	liver:	n/a	n/a
50	BRCA1	chr3:75781631-75781860	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56709052..56711813-chr3:75770362..75772517,2	MCF-7	breast:
2	chr3:75790783..75791412-chr6:15280318..15280818,2	MCF-7	breast:
3	chr3:75804459..75806623-chr3:75811168..75814143,2	K562	blood:
4	chr3:75804459..75806623-chr3:75811168..75814143,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4273	chr3:75787441-75787458	MIMAT0016903

No data

Variant related genes	Relation type
MIR4273	TF binding region
RN7SL92P	TF binding region
ENSG00000212195	chromatin interactions

Extended variants
information (count: 5200 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:5200 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140779677	chr3:75765996-75765997	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs386662522	chr3:75766000-75766001	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201403651	chr3:75766002-75766003	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150531005	chr3:75766015-75766016	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs75129809	chr3:75766027-75766028	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs78825134	chr3:75766030-75766031	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs76722271	chr3:75766033-75766034	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs80110414	chr3:75766040-75766041	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77230410	chr3:75766071-75766072	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76188438	chr3:75766091-75766092	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76384397	chr3:75766099-75766100	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs146653435	chr3:75766122-75766123	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs139195894	chr3:75766123-75766124	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112908455	chr3:75766143-75766144	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs77702875	chr3:75766158-75766159	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs76567839	chr3:75766161-75766162	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377333125	chr3:75766174-75766175	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs142474741	chr3:75766175-75766176	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76267924	chr3:75766180-75766181	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs62247355	chr3:75766197-75766198	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76583567	chr3:75766201-75766202	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs79687311	chr3:75766202-75766203	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs146323442	chr3:75766228-75766229	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs80015053	chr3:75766254-75766255	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs77667270	chr3:75766259-75766260	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374616737	chr3:75766267-75766268	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs142369385	chr3:75766268-75766269	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs145367088	chr3:75766269-75766270	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs143414448	chr3:75766285-75766286	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs146376502	chr3:75766300-75766301	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200674168	chr3:75766305-75766306	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs142197647	chr3:75766306-75766307	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs140775597	chr3:75766325-75766326	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150372352	chr3:75766332-75766333	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs138051167	chr3:75766351-75766352	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs74450180	chr3:75766370-75766371	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs143977815	chr3:75766384-75766385	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs139871749	chr3:75766399-75766400	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201266695	chr3:75766413-75766414	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs75411532	chr3:75766422-75766423	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs73841553	chr3:75766423-75766424	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201166125	chr3:75766426-75766427	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199840259	chr3:75766427-75766428	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs151096320	chr3:75766434-75766435	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76242384	chr3:75766439-75766440	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs193078078	chr3:75766442-75766443	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs78540649	chr3:75766451-75766452	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs147404169	chr3:75766457-75766458	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs143690521	chr3:75766462-75766463	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199623400	chr3:75766472-75766473	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:780 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75757800-75794800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:75762400-75770800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr3:75763600-75766600	Weak transcription	Pancreas	Pancrea
4	chr3:75763800-75794800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr3:75764200-75771000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:75764800-75780200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr3:75765400-75768200	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr3:75765400-75769800	ZNF genes & repeats	Liver	Liver
9	chr3:75765400-75770200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr3:75765400-75770400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:75765400-75811200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:75765600-75766000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
13	chr3:75765600-75767600	ZNF genes & repeats	Fetal Kidney	kidney
14	chr3:75765600-75768400	ZNF genes & repeats	Aorta	Aorta
15	chr3:75765600-75768800	ZNF genes & repeats	Fetal Heart	heart
16	chr3:75765600-75769000	ZNF genes & repeats	Ovary	ovary
17	chr3:75765600-75769600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr3:75765600-75769800	ZNF genes & repeats	Psoas Muscle	Psoas
19	chr3:75765800-75768000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr3:75765800-75768200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr3:75765800-75768600	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr3:75765800-75770000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr3:75766000-75766200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr3:75766000-75768800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr3:75766200-75768800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:75766200-75768800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr3:75766200-75769800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr3:75766200-75770000	ZNF genes & repeats	Fetal Lung	lung
29	chr3:75766200-75809000	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr3:75766400-75768600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr3:75766600-75767600	ZNF genes & repeats	Fetal Brain Male	brain
32	chr3:75766600-75767800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:75766600-75767800	ZNF genes & repeats	Gastric	stomach
34	chr3:75766600-75768000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr3:75766600-75768000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
36	chr3:75766600-75768400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:75766600-75768400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:75766600-75768400	ZNF genes & repeats	Esophagus	oesophagus
39	chr3:75766600-75768400	ZNF genes & repeats	Left Ventricle	heart
40	chr3:75766600-75768400	ZNF genes & repeats	Lung	lung
41	chr3:75766600-75768400	ZNF genes & repeats	Pancreas	Pancrea
42	chr3:75766600-75768600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:75766600-75768800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:75766600-75768800	ZNF genes & repeats	Brain Anterior Caudate	brain
45	chr3:75766600-75768800	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr3:75766600-75768800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
47	chr3:75766600-75768800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr3:75766800-75767400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:75766800-75767400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr3:75766800-75767400	ZNF genes & repeats	Right Atrium	heart

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