Variant report

Variant	nsv590052
Chromosome Location	chr3:34910172-34937547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:34925200-34925277	K562	blood:	n/a	n/a
2	BATF	chr3:34920100-34920291	GM12878	blood:	n/a	chr3:34920159-34920170
3	BATF	chr3:34922563-34922861	GM12878	blood:	n/a	n/a
4	CEBPB	chr3:34930530-34930765	A549	lung:	n/a	chr3:34930689-34930700
5	CEBPB	chr3:34930521-34930758	HepG2	liver:	n/a	chr3:34930689-34930700
6	CTCF	chr3:34924440-34924590	GM12871	blood:	n/a	n/a
7	CTCF	chr3:34924220-34924370	HCM	heart:	n/a	n/a
8	CTCF	chr3:34918704-34918769	GM13976	blood:	n/a	n/a
9	CTCF	chr3:34924187-34924674	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:34924320-34924470	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr3:34924314-34924517	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:34924320-34924470	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr3:34924320-34924470	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr3:34918800-34918950	GM06990	blood:	n/a	n/a
15	CTCF	chr3:34924360-34924510	Caco-2	colon:	n/a	n/a
16	CTCF	chr3:34924480-34924630	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr3:34924335-34924504	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr3:34924340-34924490	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:34924340-34924490	RPTEC	kidney:	n/a	n/a
20	CTCF	chr3:34924300-34924450	HCM	heart:	n/a	n/a
21	CTCF	chr3:34924320-34924470	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr3:34924360-34924510	GM12869	blood:	n/a	n/a
23	CTCF	chr3:34924329-34924496	ProgFib	skin:	n/a	n/a
24	CTCF	chr3:34924364-34924448	HepG2	liver:	n/a	n/a
25	CTCF	chr3:34924340-34924490	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr3:34924360-34924510	HRE	kidney:	n/a	n/a
27	CTCF	chr3:34924388-34924417	MCF-7	breast:	n/a	n/a
28	CTCF	chr3:34924260-34924410	GM12872	blood:	n/a	n/a
29	CTCF	chr3:34924451-34924455	HepG2	liver:	n/a	n/a
30	CTCF	chr3:34924240-34924390	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr3:34924280-34924430	GM12866	blood:	n/a	n/a
32	CTCF	chr3:34924320-34924470	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr3:34924320-34924470	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr3:34924339-34924469	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr3:34924220-34924370	NB4	blood:	n/a	n/a
36	CTCF	chr3:34924300-34924450	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr3:34924305-34924638	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:34924380-34924530	HAc	cerebellar:	n/a	n/a
39	CTCF	chr3:34924300-34924450	HMEC	breast:	n/a	n/a
40	CTCF	chr3:34924300-34924450	HCFaa	heart:	n/a	n/a
41	CTCF	chr3:34924324-34924476	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr3:34924260-34924410	HRE	kidney:	n/a	n/a
43	CTCF	chr3:34924100-34924250	HAc	cerebellar:	n/a	n/a
44	CTCF	chr3:34924120-34924270	A549	lung:	n/a	n/a
45	CTCF	chr3:34932420-34932570	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr3:34924340-34924460	Gliobla	brain:	n/a	n/a
47	CTCF	chr3:34924287-34924543	Medullo	brain:	n/a	n/a
48	CTCF	chr3:34924366-34924458	LNCaP	prostate:	n/a	n/a
49	CTCF	chr3:34924409-34924418	GM13977	blood:	n/a	n/a
50	CTCF	chr3:34924335-34924556	SK-N-SH_RA	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:34927797..34931152-chr3:34931708..34934301,3	K562	blood:
2	chr3:34911721..34913497-chr3:34916113..34918111,2	K562	blood:
3	chr3:34911721..34913497-chr3:34916113..34918111,2	K562	blood:
4	chr3:34927797..34931152-chr3:34931708..34934301,3	K562	blood:
5	chr3:34918996..34921030-chr3:34921442..34924051,2	K562	blood:
6	chr3:34918996..34921030-chr3:34921442..34924051,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARPP21-2	chr3:34914133-34915346	NONHSAT088963
2	lnc-CLASP2-8	chr3:34917287-34918066	NONHSAT088964
3	lnc-CLASP2-8	chr3:34920905-34920958	NONHSAT088964

No data

Variant related genes	Relation type
FECHP1	TF binding region

Extended variants
information (count: 315 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574730800	chr3:34910473-34910474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541967264	chr3:34910474-34910475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553889676	chr3:34910498-34910499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572185495	chr3:34910514-34910515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546022647	chr3:34910515-34910516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs367731126	chr3:34910520-34910521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576685802	chr3:34910564-34910565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs544045726	chr3:34910575-34910576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190734488	chr3:34910590-34910591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs115047932	chr3:34910597-34910598	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs4678716	chr3:34910638-34910639	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9856962	chr3:34910642-34910643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549209010	chr3:34910660-34910661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs61558461	chr3:34910675-34910676	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531496154	chr3:34910676-34910677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs150437958	chr3:34910681-34910682	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138146815	chr3:34910697-34910698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs181523453	chr3:34910726-34910727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs114281153	chr3:34910730-34910731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115390743	chr3:34910738-34910739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs6777980	chr3:34910741-34910742	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528193432	chr3:34910763-34910764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs535890367	chr3:34910773-34910774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187010451	chr3:34910796-34910797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568767152	chr3:34911527-34911528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs144056858	chr3:34911561-34911562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372903444	chr3:34911570-34911571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546447642	chr3:34911581-34911582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs6794100	chr3:34911582-34911583	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1403438	chr3:34911585-34911586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs142782928	chr3:34911604-34911605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369164283	chr3:34911727-34911728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs115764512	chr3:34911744-34911745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs577902239	chr3:34911829-34911830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs145035673	chr3:34914134-34914135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs371072673	chr3:34914149-34914150	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs62260220	chr3:34914171-34914172	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147732484	chr3:34914183-34914184	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs575842183	chr3:34914196-34914197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs530690730	chr3:34914229-34914230	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs190405484	chr3:34914231-34914232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs574661147	chr3:34914320-34914321	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs542097514	chr3:34914330-34914331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs56269953	chr3:34914343-34914344	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs555011717	chr3:34914350-34914351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs573314552	chr3:34914364-34914365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs373836945	chr3:34914384-34914385	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs561207363	chr3:34914390-34914391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs565261384	chr3:34914396-34914397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs532619055	chr3:34914403-34914404	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34918600-34919200	Enhancers	Fetal Intestine Large	intestine
2	chr3:34918600-34919200	Enhancers	Fetal Intestine Small	intestine
3	chr3:34921400-34922000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:34921400-34922200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:34921400-34922600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:34921600-34922000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:34921800-34922200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:34921800-34922200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:34922600-34923200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:34928000-34928600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:34928200-34928600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:34928200-34928800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:34931800-34932000	Enhancers	Fetal Brain Male	brain
14	chr3:34931800-34932000	Enhancers	Fetal Intestine Small	intestine
15	chr3:34932000-34933800	Weak transcription	Fetal Brain Male	brain
16	chr3:34932400-34932800	Enhancers	Fetal Intestine Large	intestine
17	chr3:34932600-34932800	Enhancers	Fetal Intestine Small	intestine
18	chr3:34933800-34934000	Enhancers	Fetal Brain Male	brain
19	chr3:34934000-34934600	Weak transcription	Fetal Brain Male	brain

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