Variant report

Variant	nsv963746
Chromosome Location	chr2:171602620-171609432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:183)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:171604412-171604856	K562	blood:	n/a	n/a
2	ATF1	chr2:171604453-171604808	K562	blood:	n/a	n/a
3	ATF1	chr2:171606301-171606359	K562	blood:	n/a	n/a
4	ATF3	chr2:171604409-171604798	K562	blood:	n/a	n/a
5	BACH1	chr2:171604571-171604685	K562	blood:	n/a	chr2:171604643-171604657
6	BHLHE40	chr2:171604296-171604789	K562	blood:	n/a	n/a
7	CEBPB	chr2:171604440-171604783	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:171604496-171604761	K562	blood:	n/a	n/a
9	CTCF	chr2:171603103-171603180	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr2:171608204-171608266	GM19240	blood:	n/a	n/a
11	CTCF	chr2:171608213-171608255	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:171604610-171604650	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr2:171608203-171608280	Fibrobl	skin:	n/a	n/a
14	CTCF	chr2:171609260-171609318	Fibrobl	skin:	n/a	n/a
15	CTCF	chr2:171603036-171603124	GM20000	blood:	n/a	n/a
16	CTCF	chr2:171608267-171608268	GM19240	blood:	n/a	n/a
17	CTCF	chr2:171608501-171608539	GM10248	blood:	n/a	n/a
18	CTCF	chr2:171608574-171608654	GM13977	blood:	n/a	n/a
19	CUX1	chr2:171604348-171604666	K562	blood:	n/a	n/a
20	EP300	chr2:171604529-171604772	K562	blood:	n/a	n/a
21	FOS	chr2:171604441-171604833	MCF10A-Er-Src	breast:	n/a	chr2:171604646-171604654
22	FOS	chr2:171604427-171604838	MCF10A-Er-Src	breast:	n/a	chr2:171604646-171604654
23	FOS	chr2:171604426-171604833	MCF10A-Er-Src	breast:	n/a	chr2:171604646-171604654
24	FOS	chr2:171604379-171604838	MCF10A-Er-Src	breast:	n/a	chr2:171604646-171604654
25	FOSL2	chr2:171608997-171609440	HepG2	liver:	n/a	n/a
26	FOSL2	chr2:171608050-171608419	HepG2	liver:	n/a	n/a
27	GATA3	chr2:171606780-171607014	T-47D	breast:	n/a	n/a
28	HCFC1	chr2:171604301-171604496	K562	blood:	n/a	n/a
29	HEY1	chr2:171608134-171608745	HepG2	liver:	n/a	chr2:171608235-171608250 chr2:171608241-171608256
30	HEY1	chr2:171608109-171608442	K562	blood:	n/a	chr2:171608235-171608250 chr2:171608241-171608256
31	HEY1	chr2:171608170-171608340	HepG2	liver:	n/a	chr2:171608235-171608250 chr2:171608241-171608256
32	HEY1	chr2:171608088-171608434	K562	blood:	n/a	chr2:171608235-171608250 chr2:171608241-171608256
33	JUN	chr2:171604449-171604827	K562	blood:	n/a	chr2:171604646-171604654
34	JUN	chr2:171603862-171604928	K562	blood:	n/a	chr2:171604646-171604654
35	JUN	chr2:171604493-171604754	K562	blood:	n/a	chr2:171604646-171604654
36	JUND	chr2:171608176-171608327	HepG2	liver:	n/a	n/a
37	JUND	chr2:171604380-171604840	K562	blood:	n/a	chr2:171604646-171604654
38	JUND	chr2:171608159-171608334	HepG2	liver:	n/a	n/a
39	MAFF	chr2:171604481-171604782	K562	blood:	n/a	chr2:171604643-171604657
40	MAFK	chr2:171604432-171604796	K562	blood:	n/a	chr2:171604647-171604656 chr2:171604643-171604657 chr2:171604646-171604656
41	MAFK	chr2:171604465-171604773	IMR90	lung:	n/a	chr2:171604647-171604656 chr2:171604643-171604657 chr2:171604646-171604656
42	MAX	chr2:171604528-171604742	K562	blood:	n/a	chr2:171604646-171604655
43	MAX	chr2:171604207-171604752	NB4	blood:	n/a	chr2:171604331-171604341 chr2:171604646-171604655
44	MAX	chr2:171604543-171604839	K562	blood:	n/a	chr2:171604646-171604655
45	MAZ	chr2:171604250-171604692	K562	blood:	n/a	chr2:171604646-171604655
46	MYC	chr2:171604489-171604835	MCF10A-Er-Src	breast:	n/a	chr2:171604646-171604655
47	MYC	chr2:171608199-171608278	MCF-7	breast:	n/a	n/a
48	MYC	chr2:171608123-171608270	MCF-7	breast:	n/a	n/a
49	MYC	chr2:171608156-171608267	K562	blood:	n/a	n/a
50	MYC	chr2:171604471-171604796	K562	blood:	n/a	chr2:171604646-171604655

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:171608293-171608343	IMR90	lung:	fetal
2	chr2:171608308-171608358	MCF-7	breast:	n/a
3	chr2:171608303-171608353	SAEC	small airway:	n/a
4	chr2:171608308-171608358	Hela-S3	cervix:	n/a
5	chr2:171608293-171608343	PANC-1	pancreas:	n/a
6	chr2:171608308-171608358	AG09319	gingival:	n/a
7	chr2:171608293-171608343	ECC-1	luminal epithelium:	n/a
8	chr2:171608308-171608358	AG04449	skin:	fetal
9	chr2:171608293-171608343	LNCaP	prostate:	n/a
10	chr2:171608308-171608358	HRPEpiC	eye:	n/a
11	chr2:171608308-171608358	K562	blood:	n/a
12	chr2:171608293-171608343	AG04449	skin:	fetal
13	chr2:171608293-171608343	Jurkat	blood:	n/a
14	chr2:171608303-171608353	SK-N-SH	brain:	n/a
15	chr2:171608308-171608358	HepG2	liver:	n/a
16	chr2:171608308-171608358	GM06990	blood:	n/a
17	chr2:171608308-171608358	SK-N-SH_RA	brain:	n/a
18	chr2:171608293-171608343	HCT-116	colon:	n/a
19	chr2:171608293-171608343	HRPEpiC	eye:	n/a
20	chr2:171608303-171608353	AG09319	gingival:	n/a
21	chr2:171608303-171608353	NB4	blood:	n/a
22	chr2:171608303-171608353	PrEC	prostate:	n/a
23	chr2:171608308-171608358	AoSMC	blood vessel:	n/a
24	chr2:171608303-171608353	HEEpiC	esophagus:	n/a
25	chr2:171608308-171608358	HRE	kidney:	n/a
26	chr2:171608303-171608353	LNCaP	prostate:	n/a
27	chr2:171608303-171608353	NH-A	brain:	n/a
28	chr2:171608293-171608343	NT2-D1	testis:	n/a
29	chr2:171608303-171608353	HCM	heart:	n/a
30	chr2:171608293-171608343	GM12878	blood:	n/a
31	chr2:171608308-171608358	GM19239	blood:	n/a
32	chr2:171608303-171608353	AG09309	skin:	n/a
33	chr2:171608293-171608343	ProgFib	skin:	n/a
34	chr2:171608303-171608353	GM12892	blood:	n/a
35	chr2:171608303-171608353	T-47D	breast:	n/a
36	chr2:171608308-171608358	Caco-2	colon:	n/a
37	chr2:171608293-171608343	K562	blood:	n/a
38	chr2:171608308-171608358	GM12878	blood:	n/a
39	chr2:171608303-171608353	ProgFib	skin:	n/a
40	chr2:171608303-171608353	HCT-116	colon:	n/a
41	chr2:171608293-171608343	HMEC	breast:	n/a
42	chr2:171608308-171608358	AG10803	skin:	n/a
43	chr2:171608303-171608353	PFSK-1	brain:	n/a
44	chr2:171608293-171608343	HRE	kidney:	n/a
45	chr2:171608293-171608343	NHDF-neo	bronchial:	n/a
46	chr2:171608293-171608343	SKMC	muscle:	n/a
47	chr2:171608303-171608353	Caco-2	colon:	n/a
48	chr2:171608293-171608343	AG09309	skin:	n/a
49	chr2:171608293-171608343	ovcar-3	ovarian:	n/a
50	chr2:171608293-171608343	HL-60	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171081877..171083554-chr2:171602935..171605209,2	K562	blood:
2	chr2:171571145..171574823-chr2:171602056..171606730,4	K562	blood:
3	chr2:171598979..171601021-chr2:171601414..171603949,2	K562	blood:
4	chr2:171603392..171605168-chr2:171617778..171619766,2	K562	blood:
5	chr2:171525220..171526847-chr2:171603217..171605132,2	K562	blood:
6	chr2:171603347..171605855-chr2:171623279..171625744,2	K562	blood:
7	chr2:171598608..171603078-chr2:171626081..171629316,7	K562	blood:
8	chr2:171595899..171597682-chr2:171601375..171604248,2	MCF-7	breast:
9	chr2:171586428..171588996-chr2:171600958..171602689,2	K562	blood:
10	chr2:171599446..171601204-chr2:171604629..171607257,2	K562	blood:
11	chr2:171571145..171574004-chr2:171604005..171606730,2	K562	blood:
12	chr2:171594157..171598805-chr2:171599016..171605066,9	K562	blood:
13	chr2:171598820..171602992-chr2:171626434..171628904,5	K562	blood:
14	chr2:171602544..171604977-chr2:171607272..171609245,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007405.2.1-5	chr2:171609310-171609456	NONHSAT075418

No data

Variant related genes	Relation type
EIF2S2P4	TF binding region
EIF2S2P4	CpG island
ENSG00000239467	chromatin interactions
ENSG00000128692	chromatin interactions
ENSG00000234350	chromatin interactions
ENSG00000204335	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114134314	chr2:171602623-171602624	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs571396329	chr2:171602640-171602641	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs141390985	chr2:171602730-171602731	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs538821495	chr2:171602737-171602738	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs557232678	chr2:171602847-171602848	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs540201279	chr2:171602860-171602861	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs116470798	chr2:171602884-171602885	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs542860634	chr2:171602889-171602890	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs554575995	chr2:171602947-171602948	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs78568388	chr2:171602953-171602954	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs200233167	chr2:171602986-171602987	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs139647778	chr2:171603000-171603001	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs184974301	chr2:171603034-171603035	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs565014379	chr2:171603067-171603068	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs532501807	chr2:171603068-171603069	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs189366733	chr2:171603077-171603078	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs562697564	chr2:171603095-171603096	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs143815643	chr2:171603146-171603147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs548832253	chr2:171603154-171603155	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567073771	chr2:171603202-171603203	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs151046606	chr2:171603212-171603213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs141198849	chr2:171603222-171603223	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571356817	chr2:171603251-171603252	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538784250	chr2:171603252-171603253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557095522	chr2:171603263-171603264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568992880	chr2:171603287-171603288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116145039	chr2:171603315-171603316	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs114199152	chr2:171603320-171603321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573079895	chr2:171603333-171603334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181696760	chr2:171603434-171603435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564737548	chr2:171603468-171603469	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs78565371	chr2:171603488-171603489	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370034966	chr2:171603498-171603499	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547730071	chr2:171603526-171603527	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576831222	chr2:171603546-171603547	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544262337	chr2:171603560-171603561	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145071025	chr2:171603613-171603614	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574948197	chr2:171603637-171603638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs11321899	chr2:171603646-171603647	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs398080805	chr2:171603656-171603657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11322508	chr2:171603657-171603658	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs186040981	chr2:171603665-171603666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560824674	chr2:171603666-171603667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6721454	chr2:171603696-171603697	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377117919	chr2:171603699-171603700	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546613845	chr2:171603709-171603710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564821482	chr2:171603752-171603753	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114381035	chr2:171603768-171603769	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs75906136	chr2:171603771-171603772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs550660746	chr2:171603773-171603774	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171574000-171620800	Weak transcription	Pancreas	Pancrea
2	chr2:171597600-171603800	Weak transcription	HMEC	breast
3	chr2:171597800-171604000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:171598000-171603800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:171600800-171604000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:171601000-171603800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:171601600-171604200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:171601600-171606400	Weak transcription	Gastric	stomach
9	chr2:171601800-171604200	Weak transcription	Stomach Mucosa	stomach
10	chr2:171602000-171604000	Weak transcription	K562	blood
11	chr2:171602600-171603800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:171603800-171604200	Enhancers	HMEC	breast
13	chr2:171603800-171604400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:171603800-171604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:171603800-171604400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:171604000-171604200	Enhancers	K562	blood
17	chr2:171604000-171604400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:171604000-171604400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:171604000-171604400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:171604000-171604400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:171604000-171604400	Enhancers	NHLF	lung
22	chr2:171604000-171604600	Enhancers	NHEK	skin
23	chr2:171604000-171604800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:171604000-171605200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:171604200-171604400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:171604200-171604400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:171604200-171604400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:171604200-171604400	Enhancers	Fetal Intestine Small	intestine
29	chr2:171604200-171604400	Enhancers	NH-A	brain
30	chr2:171604200-171604600	Flanking Active TSS	HMEC	breast
31	chr2:171604200-171604600	Flanking Active TSS	K562	blood
32	chr2:171604200-171604600	Enhancers	Osteobl	bone
33	chr2:171604200-171605200	Enhancers	Stomach Mucosa	stomach
34	chr2:171604400-171604600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:171604400-171604600	Flanking Active TSS	NH-A	brain
36	chr2:171604600-171604800	Bivalent Enhancer	Primary B cells from cord blood	blood
37	chr2:171604600-171605200	Enhancers	K562	blood
38	chr2:171605200-171606600	Weak transcription	K562	blood
39	chr2:171606600-171606800	Enhancers	K562	blood

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