Variant report

Variant	nsv508253
Chromosome Location	chr3:146282620-146301477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:269)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:269 , 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	ARID3A	chr3:146295541-146295811	K562	blood:	n/a	n/a
2	ARID3A	chr3:146295512-146295811	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:146298569-146299608	HepG2	liver:	n/a	n/a
4	ATF1	chr3:146299931-146300152	K562	blood:	n/a	n/a
5	BHLHE40	chr3:146298822-146299312	HepG2	liver:	n/a	n/a
6	BHLHE40	chr3:146288926-146288937	K562	blood:	n/a	n/a
7	CEBPB	chr3:146286212-146286363	A549	lung:	n/a	n/a
8	CEBPB	chr3:146284673-146284675	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr3:146298851-146299312	HepG2	liver:	n/a	chr3:146299021-146299038
10	CEBPB	chr3:146298901-146299092	HepG2	liver:	n/a	chr3:146299021-146299038
11	CEBPB	chr3:146299890-146300141	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr3:146284384-146284732	HepG2	liver:	n/a	chr3:146284539-146284550
13	CEBPB	chr3:146299996-146300128	K562	blood:	n/a	n/a
14	CHD2	chr3:146299921-146300178	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr3:146295540-146295690	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr3:146295530-146295770	K562	blood:	n/a	n/a
17	CTCF	chr3:146295304-146295856	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr3:146295540-146295690	GM12874	blood:	n/a	n/a
19	CTCF	chr3:146295540-146295690	GM12878	blood:	n/a	n/a
20	CTCF	chr3:146295443-146295855	GM12878	blood:	n/a	n/a
21	CTCF	chr3:146295523-146295796	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr3:146295628-146295669	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:146295860-146296010	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr3:146284186-146284206	GM13976	blood:	n/a	n/a
25	CTCF	chr3:146295459-146295879	K562	blood:	n/a	n/a
26	CTCF	chr3:146295560-146295710	HVMF	connective:	n/a	n/a
27	CTCF	chr3:146295580-146295730	Caco-2	colon:	n/a	n/a
28	CTCF	chr3:146295460-146295610	HVMF	connective:	n/a	n/a
29	CTCF	chr3:146295580-146295730	HPF	lung:	n/a	n/a
30	CTCF	chr3:146295240-146295956	HCT-116	colon:	n/a	n/a
31	CTCF	chr3:146295620-146295770	AG04450	lung:	n/a	n/a
32	CTCF	chr3:146295536-146295764	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr3:146295520-146295670	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr3:146295600-146295750	AG10803	skin:	n/a	n/a
35	CTCF	chr3:146295580-146295730	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr3:146295600-146295750	HMF	breast:	n/a	n/a
37	CTCF	chr3:146295379-146295806	HCT-116	colon:	n/a	n/a
38	CTCF	chr3:146295578-146295761	LNCaP	prostate:	n/a	n/a
39	CTCF	chr3:146295600-146295750	NHLF	lung:	n/a	n/a
40	CTCF	chr3:146295576-146295755	GM13977	blood:	n/a	n/a
41	CTCF	chr3:146295580-146295730	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr3:146295572-146295758	GM10266	blood:	n/a	n/a
43	CTCF	chr3:146295600-146295750	GM12873	blood:	n/a	n/a
44	CTCF	chr3:146295580-146295730	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr3:146295560-146295710	HFF	foreskin:	n/a	n/a
46	CTCF	chr3:146295585-146295739	LNCaP	prostate:	n/a	n/a
47	CTCF	chr3:146294880-146296108	A549	lung:	n/a	n/a
48	CTCF	chr3:146295764-146295765	LNCaP	prostate:	n/a	n/a
49	CTCF	chr3:146295522-146295749	A549	lung:	n/a	n/a
50	CTCF	chr3:146295620-146295770	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:145936366..145937318-chr3:146295230..146296148,3	K562	blood:
2	chr3:146296197..146299106-chr3:146299560..146302239,2	K562	blood:
3	chr3:145783012..145783944-chr3:146295169..146296067,2	K562	blood:
4	chr3:146051675..146052565-chr3:146295209..146295722,2	MCF-7	breast:
5	chr3:146044616..146045587-chr3:146295200..146296047,4	MCF-7	breast:
6	chr3:146296197..146299106-chr3:146299560..146302239,2	K562	blood:
7	chr3:146051922..146052597-chr3:146295303..146296107,2	MCF-7	breast:
8	chr3:145940254..145941134-chr3:146295120..146295978,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-428P	TF binding region

Extended variants
information (count: 623 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184541886	chr3:146282633-146282634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190263094	chr3:146282635-146282636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61447149	chr3:146282643-146282644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574163127	chr3:146282676-146282677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549414659	chr3:146282690-146282691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201166723	chr3:146282701-146282702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57861666	chr3:146282704-146282705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397991324	chr3:146282720-146282721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566827377	chr3:146282767-146282768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112733469	chr3:146282864-146282865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535175644	chr3:146282886-146282887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537802677	chr3:146282891-146282892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578020298	chr3:146282902-146282903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545106745	chr3:146282907-146282908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150207203	chr3:146282976-146282977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575192450	chr3:146282981-146282982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542502309	chr3:146282982-146282983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147906285	chr3:146282986-146282987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112098273	chr3:146283064-146283065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201276741	chr3:146283081-146283082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374836645	chr3:146283083-146283084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189260638	chr3:146283107-146283108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111454744	chr3:146283127-146283128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74801729	chr3:146283128-146283129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397877512	chr3:146283137-146283138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564842012	chr3:146283138-146283139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116267597	chr3:146283147-146283148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547199808	chr3:146283160-146283161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181916980	chr3:146283169-146283170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186937287	chr3:146283180-146283181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114641201	chr3:146283181-146283182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371884486	chr3:146283183-146283184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538776397	chr3:146283217-146283218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549703287	chr3:146283234-146283235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567922330	chr3:146283314-146283315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373564832	chr3:146283334-146283335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534922985	chr3:146283359-146283360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553517159	chr3:146283361-146283362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571678549	chr3:146283459-146283460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538743788	chr3:146283496-146283497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556976580	chr3:146283519-146283520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568055160	chr3:146283543-146283544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575243147	chr3:146283688-146283689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542565357	chr3:146283692-146283693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369990233	chr3:146283696-146283697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374411525	chr3:146283744-146283745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540085565	chr3:146283758-146283759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34029715	chr3:146283773-146283774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147036036	chr3:146283832-146283833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532151563	chr3:146283868-146283869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146270000-146284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:146275800-146286200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:146280200-146283800	Weak transcription	NHEK	skin
4	chr3:146283800-146284600	Enhancers	HMEC	breast
5	chr3:146283800-146284800	Enhancers	NHEK	skin
6	chr3:146284000-146284400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:146284200-146284600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:146286600-146287600	Enhancers	NHLF	lung
9	chr3:146286600-146288200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:146286800-146287600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:146286800-146287600	Enhancers	HSMM	muscle
12	chr3:146287000-146287600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:146287000-146288200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:146287200-146287600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:146287200-146287600	Enhancers	Osteobl	bone
16	chr3:146287200-146288200	Enhancers	NHDF-Ad	bronchial
17	chr3:146288200-146290200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:146292600-146293800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:146293200-146293600	Enhancers	Brain Substantia Nigra	brain
20	chr3:146293800-146299800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:146294800-146295000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:146295000-146295200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:146295200-146300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:146297200-146300400	Enhancers	HepG2	liver
25	chr3:146297600-146298000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:146297600-146298200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:146297600-146298400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:146297800-146298600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:146297800-146300200	Enhancers	HMEC	breast
30	chr3:146297800-146300400	Enhancers	NHEK	skin
31	chr3:146298000-146299800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:146298000-146300400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:146298200-146299800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:146298400-146299200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:146298400-146299200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr3:146298400-146300200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:146298600-146313200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:146298800-146299000	Enhancers	Liver	Liver
39	chr3:146299000-146299200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:146299200-146300000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:146299200-146300000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:146299200-146300000	Weak transcription	Liver	Liver
43	chr3:146299200-146300200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:146299200-146301200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr3:146299400-146299800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:146299600-146301000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr3:146299600-146301400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:146299800-146300000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr3:146299800-146300000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:146299800-146300200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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