Variant report

Variant	nsv834720
Chromosome Location	chr3:67853167-68037201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:714)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:67926647-67927182	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:67925864-67926374	HepG2	liver:	n/a	chr3:67926095-67926111 chr3:67926096-67926112
3	ARID3A	chr3:67914380-67914539	HepG2	liver:	n/a	n/a
4	BACH1	chr3:68017186-68017276	K562	blood:	n/a	n/a
5	BHLHE40	chr3:67935315-67935332	GM12878	blood:	n/a	n/a
6	CCNT2	chr3:68033067-68033322	K562	blood:	n/a	n/a
7	CEBPB	chr3:67974240-67974550	HepG2	liver:	n/a	n/a
8	CEBPB	chr3:67926724-67926973	HepG2	liver:	n/a	n/a
9	CEBPB	chr3:67997188-67997474	HepG2	liver:	n/a	chr3:67997344-67997355
10	CEBPB	chr3:67932535-67932706	HepG2	liver:	n/a	chr3:67932573-67932584 chr3:67932639-67932651 chr3:67932571-67932582
11	CEBPB	chr3:67964275-67964462	H1-hESC	embryonic stem cell:	n/a	chr3:67964358-67964369
12	CEBPB	chr3:67980779-67981121	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr3:67926694-67926991	A549	lung:	n/a	n/a
14	CEBPB	chr3:68030853-68031196	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr3:67868686-67868819	HepG2	liver:	n/a	n/a
16	CEBPB	chr3:68037035-68037272	A549	lung:	n/a	chr3:68037159-68037170
17	CEBPB	chr3:67985138-67985469	HepG2	liver:	n/a	chr3:67985315-67985326
18	CEBPB	chr3:67926677-67927058	HepG2	liver:	n/a	n/a
19	CEBPB	chr3:68037096-68037312	K562	blood:	n/a	chr3:68037159-68037170
20	CEBPB	chr3:67854591-67854841	HepG2	liver:	n/a	n/a
21	CEBPB	chr3:68030854-68031193	HepG2	liver:	n/a	n/a
22	CEBPB	chr3:67985164-67985454	IMR90	lung:	n/a	chr3:67985315-67985326
23	CEBPB	chr3:68033366-68033687	HepG2	liver:	n/a	chr3:68033525-68033536 chr3:68033502-68033513
24	CEBPB	chr3:67872704-67872898	HepG2	liver:	n/a	n/a
25	CEBPB	chr3:68037001-68037283	HepG2	liver:	n/a	chr3:68037159-68037170
26	CEBPB	chr3:67964234-67964528	HepG2	liver:	n/a	chr3:67964358-67964369
27	CEBPB	chr3:67926813-67926954	HepG2	liver:	n/a	n/a
28	CEBPB	chr3:68037023-68037308	IMR90	lung:	n/a	chr3:68037159-68037170
29	CEBPB	chr3:68037007-68037284	H1-hESC	embryonic stem cell:	n/a	chr3:68037159-68037170
30	CEBPB	chr3:67926670-67927091	HepG2	liver:	n/a	n/a
31	CEBPB	chr3:67974289-67974478	A549	lung:	n/a	n/a
32	CHD2	chr3:67998544-67998794	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr3:67914440-67914590	HFF-Myc	foreskin:	n/a	chr3:67914488-67914496
34	CTCF	chr3:67914369-67914708	MCF-7	breast:	n/a	chr3:67914488-67914496
35	CTCF	chr3:67854664-67854773	MCF-7	breast:	n/a	n/a
36	CTCF	chr3:67914440-67914590	BJ	skin:	n/a	chr3:67914488-67914496
37	CTCF	chr3:67870020-67870170	HCT-116	colon:	n/a	n/a
38	CTCF	chr3:67869860-67870010	HEK293	kidney:	n/a	n/a
39	CTCF	chr3:67854540-67854690	GM12871	blood:	n/a	n/a
40	CTCF	chr3:67998720-67998870	Caco-2	colon:	n/a	n/a
41	CTCF	chr3:67998960-67999110	HRE	kidney:	n/a	n/a
42	CTCF	chr3:67914420-67914570	HRE	kidney:	n/a	chr3:67914488-67914496
43	CTCF	chr3:67870000-67870150	NHEK	skin:	n/a	n/a
44	CTCF	chr3:67952200-67952350	GM12873	blood:	n/a	n/a
45	CTCF	chr3:67869974-67870167	HepG2	liver:	n/a	n/a
46	CTCF	chr3:67914440-67914590	HPAF	blood vessel:	n/a	chr3:67914488-67914496
47	CTCF	chr3:67854600-67854750	GM12872	blood:	n/a	n/a
48	CTCF	chr3:67952200-67952350	HepG2	liver:	n/a	n/a
49	CTCF	chr3:67869960-67870110	HepG2	liver:	n/a	n/a
50	CTCF	chr3:67869888-67870336	MCF-7	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:67991094..67994023-chr3:67995213..67998211,2	MCF-7	breast:
2	chr17:56160421..56161299-chr3:67919204..67919724,3	HCT-116	colon:
3	chr3:67952201..67952773-chr3:68925063..68925992,2	MCF-7	breast:
4	chr3:67840274..67841142-chr3:67914118..67914816,4	MCF-7	breast:
5	chr3:67951890..67952870-chr3:68066397..68066948,2	MCF-7	breast:
6	chr3:67951881..67952772-chr3:68305559..68306337,2	MCF-7	breast:
7	chr3:67951814..67952581-chr3:68255379..68256164,2	MCF-7	breast:
8	chr3:67991529..67993327-chr3:67994469..67996433,2	MCF-7	breast:
9	chr3:67991529..67993327-chr3:67994469..67996433,2	MCF-7	breast:
10	chr3:67890188..67892116-chr3:67894195..67896517,2	K562	blood:
11	chr3:67869561..67870138-chr3:68927224..68928400,3	MCF-7	breast:
12	chr3:67869894..67870930-chr3:68066062..68066983,4	MCF-7	breast:
13	chr17:56159655..56161786-chr3:67919204..67920724,2	MCF-7	breast:
14	chr17:56159704..56161633-chr3:67919204..67920724,2	MCF-7	breast:
15	chr3:67991094..67994023-chr3:67995213..67998211,2	MCF-7	breast:
16	chr3:67890188..67892116-chr3:67894195..67896517,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM19A1-1	chr3:67894657-67894776	XLOC_002693
2	lnc-FAM19A1-1	chr3:67997565-67998136	NR_109992
3	lnc-FAM19A1-1	chr3:67939434-67939533	NR_109992
4	lnc-FAM19A1-2	chr3:67879885-67880076	l_2384_chr3:67787798-67880076_thyroid
5	lnc-FAM19A1-1	chr3:67889921-67891263	NONHSAT090326
6	lnc-FAM19A1-1	chr3:67894657-67894776	NR_109992
7	lnc-FAM19A1-1	chr3:67939434-67939533	ENSG00000241316
8	lnc-FAM19A1-1	chr3:67894657-67894776	ENSG00000241316
9	lnc-FAM19A1-1	chr3:67890446-67891263	NR_109992
10	lnc-FAM19A1-1	chr3:67939433-67939460	NONHSAT090326
11	lnc-FAM19A1-1	chr3:67890446-67891263	ENSG00000241316
12	lnc-FAM19A1-1	chr3:67894656-67894776	NONHSAT090326
13	lnc-FAM19A1-1	chr3:67939434-67939460	XLOC_002693
14	lnc-FAM19A1-1	chr3:67997565-67998137	ENSG00000241316
15	lnc-FAM19A1-1	chr3:67891019-67891263	XLOC_002693

No data

Variant related genes	Relation type
ENSG00000266400	TF binding region
ENSG00000266290	chromatin interactions
ENSG00000264364	chromatin interactions
E2F3	miRNA target sites

Extended variants
information (count: 3288 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3288 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191165258	chr3:67854618-67854619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183831119	chr3:67854633-67854634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188081029	chr3:67854674-67854675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537152568	chr3:67854710-67854711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556873912	chr3:67854716-67854717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573815062	chr3:67854718-67854719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536134971	chr3:67854741-67854742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552822060	chr3:67854786-67854787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572818086	chr3:67854815-67854816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540989306	chr3:67854816-67854817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6548776	chr3:67854846-67854847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs578032880	chr3:67854865-67854866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191973260	chr3:67854867-67854868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563712671	chr3:67854914-67854915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369247654	chr3:67854986-67854987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183062042	chr3:67854989-67854990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560051012	chr3:67854997-67854998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114133080	chr3:67855013-67855014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534215425	chr3:67855041-67855042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114762697	chr3:67855051-67855052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536738380	chr3:67855055-67855056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142626374	chr3:67855079-67855080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111291664	chr3:67855087-67855088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77100448	chr3:67855113-67855114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374989675	chr3:67855127-67855128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143346588	chr3:67855130-67855131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577472321	chr3:67855146-67855147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572756857	chr3:67855154-67855155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534035889	chr3:67855163-67855164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187038617	chr3:67855234-67855235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192747405	chr3:67855272-67855273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375890393	chr3:67855276-67855277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184996767	chr3:67855306-67855307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543527321	chr3:67855328-67855329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557396980	chr3:67855333-67855334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151288188	chr3:67855337-67855338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543202035	chr3:67855378-67855379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74995669	chr3:67855386-67855387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528791836	chr3:67855418-67855419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200355505	chr3:67855441-67855442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377212607	chr3:67855446-67855447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115232590	chr3:67855462-67855463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564705817	chr3:67855496-67855497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574374052	chr3:67855564-67855565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530497880	chr3:67855575-67855576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550322369	chr3:67855647-67855648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556380058	chr3:67855664-67855665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529745778	chr3:67855668-67855669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547711229	chr3:67855694-67855695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114387226	chr3:67855695-67855696	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67854600-67854800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:67854600-67855200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:67854600-67856200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:67854800-67855400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:67854800-67855400	Enhancers	HSMMtube	muscle
6	chr3:67854800-67856200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:67856200-67859000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:67857600-67858000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:67857600-67858000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:67857800-67858000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:67857800-67858000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:67858000-67859800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:67858000-67860000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:67858000-67860000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:67859000-67860000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:67859200-67860200	Enhancers	Brain Hippocampus Middle	brain
17	chr3:67859200-67860600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:67859400-67860000	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:67859400-67860600	Enhancers	Liver	Liver
20	chr3:67859800-67860400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:67860000-67860400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:67860000-67860600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:67860000-67860600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:67860600-67861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:67861000-67861600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:67872400-67872800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:67879000-67879400	Enhancers	Adipose Nuclei	Adipose
28	chr3:67889800-67903400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:67896000-67896200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:67896200-67896400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:67896400-67896600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:67898600-67899600	Enhancers	Liver	Liver
33	chr3:67904000-67904600	Enhancers	Pancreas	Pancrea
34	chr3:67904000-67906600	Enhancers	Liver	Liver
35	chr3:67904600-67905600	Weak transcription	Pancreas	Pancrea
36	chr3:67905000-67905400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr3:67905600-67906400	Enhancers	Pancreas	Pancrea
38	chr3:67906600-67909200	Weak transcription	Liver	Liver
39	chr3:67908600-67909200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr3:67909000-67909400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr3:67909000-67909600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:67909200-67909800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr3:67909200-67909800	Enhancers	Liver	Liver
44	chr3:67909800-67920800	Weak transcription	Liver	Liver
45	chr3:67910800-67911200	ZNF genes & repeats	Aorta	Aorta
46	chr3:67911200-67917000	Weak transcription	Aorta	Aorta
47	chr3:67914800-67915800	Enhancers	Fetal Heart	heart
48	chr3:67917000-67917200	ZNF genes & repeats	Aorta	Aorta
49	chr3:67917200-67919800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:67920800-67922000	Enhancers	Liver	Liver

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