Variant report

Variant	nsv1009587
Chromosome Location	chr3:75750409-75794567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1065)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

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	ARID3A	chr3:75754843-75755270	K562	blood:	n/a	n/a
3	ATF1	chr3:75762715-75762961	K562	blood:	n/a	n/a
4	ATF1	chr3:75765400-75768808	K562	blood:	n/a	n/a
5	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
6	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
7	ATF1	chr3:75760657-75761408	K562	blood:	n/a	n/a
8	ATF1	chr3:75759504-75760427	K562	blood:	n/a	n/a
9	ATF1	chr3:75754856-75755222	K562	blood:	n/a	n/a
10	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
11	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
12	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
13	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
14	ATF1	chr3:75763746-75764601	K562	blood:	n/a	n/a
15	ATF1	chr3:75761625-75762259	K562	blood:	n/a	n/a
16	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
17	ATF1	chr3:75755512-75756182	K562	blood:	n/a	n/a
18	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
19	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
20	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
21	ATF3	chr3:75788958-75789896	K562	blood:	n/a	n/a
22	BACH1	chr3:75787478-75787482	K562	blood:	n/a	n/a
23	BCL3	chr3:75768536-75768746	K562	blood:	n/a	n/a
24	BDP1	chr3:75759163-75760279	Hela-S3	cervix:	n/a	n/a
25	BDP1	chr3:75760903-75761397	Hela-S3	cervix:	n/a	n/a
26	BDP1	chr3:75755278-75756197	Hela-S3	cervix:	n/a	n/a
27	BDP1	chr3:75793811-75794420	Hela-S3	cervix:	n/a	n/a
28	BDP1	chr3:75786511-75788383	Hela-S3	cervix:	n/a	n/a
29	BDP1	chr3:75787581-75788623	K562	blood:	n/a	n/a
30	BRCA1	chr3:75784420-75785348	HepG2	liver:	n/a	n/a
31	BRCA1	chr3:75765896-75765898	GM12878	blood:	n/a	n/a
32	BRCA1	chr3:75755527-75756190	GM12878	blood:	n/a	n/a
33	BRCA1	chr3:75788955-75789432	HepG2	liver:	n/a	n/a
34	BRCA1	chr3:75779149-75779672	GM12878	blood:	n/a	n/a
35	BRCA1	chr3:75777662-75777763	GM12878	blood:	n/a	n/a
36	BRCA1	chr3:75787454-75787585	GM12878	blood:	n/a	n/a
37	BRCA1	chr3:75781008-75781299	GM12878	blood:	n/a	n/a
38	BRCA1	chr3:75772739-75772915	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr3:75781631-75781860	GM12878	blood:	n/a	n/a
40	BRCA1	chr3:75773858-75774061	GM12878	blood:	n/a	n/a
41	BRCA1	chr3:75794045-75794121	GM12878	blood:	n/a	n/a
42	BRCA1	chr3:75751102-75751210	GM12878	blood:	n/a	n/a
43	BRCA1	chr3:75775671-75775917	GM12878	blood:	n/a	n/a
44	BRCA1	chr3:75754134-75754144	GM12878	blood:	n/a	n/a
45	BRCA1	chr3:75754857-75755058	GM12878	blood:	n/a	n/a
46	BRCA1	chr3:75786463-75787187	GM12878	blood:	n/a	n/a
47	BRCA1	chr3:75788868-75789166	GM12878	blood:	n/a	n/a
48	BRCA1	chr3:75785759-75786113	GM12878	blood:	n/a	n/a
49	BRCA1	chr3:75784541-75784679	GM12878	blood:	n/a	n/a
50	BRF1	chr3:75755419-75756276	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:75790783..75791412-chr6:15280318..15280818,2	MCF-7	breast:
2	chr17:56709052..56711813-chr3:75770362..75772517,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTN3-1	chr3:75762167-75762465	NONHSAT090550

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: 4915 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4915 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77513067	chr3:75750417-75750418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79815459	chr3:75750421-75750422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78138997	chr3:75750424-75750425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371702545	chr3:75750484-75750485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144720200	chr3:75750489-75750490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376372690	chr3:75750504-75750505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs79505280	chr3:75750514-75750515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs80314246	chr3:75750515-75750516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs199652623	chr3:75750533-75750534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74337136	chr3:75750549-75750550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200469808	chr3:75750555-75750556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190075870	chr3:75750559-75750560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201547634	chr3:75750560-75750561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs139042798	chr3:75750563-75750564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376580288	chr3:75750576-75750577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115515050	chr3:75750580-75750581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs115239297	chr3:75750584-75750585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372888657	chr3:75750590-75750591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116715040	chr3:75750593-75750594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs115318811	chr3:75750595-75750596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369533828	chr3:75750600-75750601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs148197250	chr3:75750603-75750604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs138058705	chr3:75750604-75750605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201563947	chr3:75750608-75750609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145014992	chr3:75750653-75750654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374979175	chr3:75750654-75750655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140854446	chr3:75750665-75750666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147547649	chr3:75750673-75750674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs200599970	chr3:75750681-75750682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371691452	chr3:75750685-75750686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149074667	chr3:75750688-75750689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114382940	chr3:75750693-75750694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs140029679	chr3:75750708-75750709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373565309	chr3:75750714-75750715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76454104	chr3:75750721-75750722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs78619294	chr3:75750725-75750726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs367980711	chr3:75750726-75750727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79803161	chr3:75750756-75750757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76140287	chr3:75750764-75750765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76167335	chr3:75750765-75750766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76036993	chr3:75750770-75750771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs80001857	chr3:75750772-75750773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79317381	chr3:75750783-75750784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140671557	chr3:75750789-75750790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138954413	chr3:75750794-75750795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150613721	chr3:75750797-75750798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182168558	chr3:75750798-75750799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201326340	chr3:75750805-75750806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112499714	chr3:75750809-75750810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75746917	chr3:75750842-75750843	ZNF genes & repeats	n/a	n/a	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75735200-75750600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr3:75743600-75752800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:75746600-75750600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr3:75749800-75750600	ZNF genes & repeats	Aorta	Aorta
5	chr3:75751200-75751400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr3:75753600-75756800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:75754200-75756400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:75754200-75756400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr3:75754600-75756400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr3:75754800-75756000	ZNF genes & repeats	Primary T cells from cord blood	blood
11	chr3:75754800-75756400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr3:75754800-75756400	ZNF genes & repeats	Fetal Brain Male	brain
13	chr3:75754800-75756800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr3:75755000-75756200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:75755000-75756200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
16	chr3:75755000-75756600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr3:75755200-75756600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:75755400-75755800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
19	chr3:75755400-75756200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:75755400-75756200	ZNF genes & repeats	Fetal Lung	lung
21	chr3:75755400-75756200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
22	chr3:75755400-75756400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr3:75755400-75756400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr3:75755400-75756600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:75755400-75756800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr3:75755400-75756800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:75755400-75756800	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr3:75755600-75756000	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr3:75755600-75756000	ZNF genes & repeats	Pancreas	Pancrea
30	chr3:75755600-75756000	ZNF genes & repeats	Right Ventricle	heart
31	chr3:75755600-75756200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:75755600-75756200	ZNF genes & repeats	Colonic Mucosa	Colon
33	chr3:75755600-75756200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr3:75755600-75756200	ZNF genes & repeats	Left Ventricle	heart
35	chr3:75755600-75756400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr3:75755600-75756400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:75755600-75756400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr3:75755600-75756800	ZNF genes & repeats	Liver	Liver
39	chr3:75755800-75756200	ZNF genes & repeats	Fetal Kidney	kidney
40	chr3:75756200-75758800	Weak transcription	Fetal Kidney	kidney
41	chr3:75756400-75758600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:75756600-75758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:75756800-75757800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:75757800-75759000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr3:75757800-75760000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr3:75757800-75760200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr3:75757800-75760800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr3:75757800-75794800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:75758000-75758600	ZNF genes & repeats	Ovary	ovary
50	chr3:75758000-75759200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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