Variant report

Variant	nsv432477
Chromosome Location	chr3:112390310-112603310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2594)
CpG islands
(count:919)
Chromatin interactive
region (count:104)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2594 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:112513846-112513924	K562	blood:	n/a	n/a
2	ARID3A	chr3:112531014-112531386	K562	blood:	n/a	n/a
3	ARID3A	chr3:112532694-112533360	K562	blood:	n/a	n/a
4	ARID3A	chr3:112488864-112489433	K562	blood:	n/a	n/a
5	ARID3A	chr3:112465565-112465964	K562	blood:	n/a	n/a
6	ARID3A	chr3:112505073-112505405	K562	blood:	n/a	n/a
7	ARID3A	chr3:112575286-112575678	K562	blood:	n/a	n/a
8	ARID3A	chr3:112541723-112541881	HepG2	liver:	n/a	n/a
9	ATF1	chr3:112488907-112489424	K562	blood:	n/a	n/a
10	ATF1	chr3:112486129-112486352	K562	blood:	n/a	n/a
11	ATF1	chr3:112504935-112505344	K562	blood:	n/a	n/a
12	ATF1	chr3:112508715-112508973	K562	blood:	n/a	n/a
13	ATF1	chr3:112465545-112465805	K562	blood:	n/a	n/a
14	ATF1	chr3:112530854-112531103	K562	blood:	n/a	n/a
15	ATF2	chr3:112488924-112489287	GM12878	blood:	n/a	n/a
16	ATF2	chr3:112395458-112396118	GM12878	blood:	n/a	n/a
17	ATF2	chr3:112592393-112592953	GM12878	blood:	n/a	n/a
18	ATF2	chr3:112532508-112533112	GM12878	blood:	n/a	n/a
19	ATF2	chr3:112395463-112396167	GM12878	blood:	n/a	n/a
20	ATF2	chr3:112486060-112486543	GM12878	blood:	n/a	n/a
21	ATF2	chr3:112488871-112489447	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr3:112492865-112493583	A549	lung:	n/a	n/a
23	ATF3	chr3:112395594-112396041	A549	lung:	n/a	n/a
24	ATF3	chr3:112395650-112395995	K562	blood:	n/a	n/a
25	BACH1	chr3:112520952-112520967	K562	blood:	n/a	n/a
26	BACH1	chr3:112463741-112464035	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr3:112402231-112402277	K562	blood:	n/a	n/a
28	BACH1	chr3:112395629-112396101	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr3:112405244-112405350	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr3:112412154-112412290	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr3:112488945-112489145	K562	blood:	n/a	n/a
32	BACH1	chr3:112395629-112396007	K562	blood:	n/a	n/a
33	BACH1	chr3:112526093-112526167	K562	blood:	n/a	n/a
34	BACH1	chr3:112488934-112489276	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr3:112453504-112453896	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr3:112577149-112577490	GM12878	blood:	n/a	chr3:112577330-112577341
37	BATF	chr3:112592502-112592819	GM12878	blood:	n/a	n/a
38	BATF	chr3:112592517-112592811	GM12878	blood:	n/a	n/a
39	BATF	chr3:112395533-112396082	GM12878	blood:	n/a	chr3:112395835-112395846
40	BATF	chr3:112505788-112505943	GM12878	blood:	n/a	chr3:112505874-112505885
41	BATF	chr3:112464413-112464668	GM12878	blood:	n/a	chr3:112464566-112464577
42	BATF	chr3:112395556-112396174	GM12878	blood:	n/a	chr3:112395835-112395846
43	BATF	chr3:112464418-112464680	GM12878	blood:	n/a	chr3:112464566-112464577
44	BATF	chr3:112489023-112489315	GM12878	blood:	n/a	n/a
45	BATF	chr3:112505746-112505941	GM12878	blood:	n/a	chr3:112505874-112505885
46	BCL11A	chr3:112395631-112396076	GM12878	blood:	n/a	chr3:112395901-112395910
47	BCL11A	chr3:112575487-112575692	GM12878	blood:	n/a	n/a
48	BCL11A	chr3:112395525-112396102	GM12878	blood:	n/a	chr3:112395901-112395910
49	BCL3	chr3:112492569-112493616	A549	lung:	n/a	n/a
50	BCL3	chr3:112453359-112454065	A549	lung:	n/a	chr3:112453849-112453857

(count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:112530978-112531028	H1-hESC	embryonic stem cell:	embryo
2	chr3:112395154-112395204	HEEpiC	esophagus:	n/a
3	chr3:112395154-112395204	LNCaP	prostate:	n/a
4	chr3:112407713-112407763	HIPEpiC	eye:	n/a
5	chr3:112530978-112531028	H1-hESC	embryonic stem cell:	embryo
6	chr3:112395154-112395204	HEEpiC	esophagus:	n/a
7	chr3:112395154-112395204	LNCaP	prostate:	n/a
8	chr3:112407713-112407763	HIPEpiC	eye:	n/a
9	chr3:112463996-112464046	HEK293	kidney:	embryo
10	chr3:112541437-112541487	GM12891	blood:	n/a
11	chr3:112463996-112464046	PrEC	prostate:	n/a
12	chr3:112407713-112407763	AG04449	skin:	fetal
13	chr3:112392531-112392581	GM12878	blood:	n/a
14	chr3:112541437-112541487	MCF10A-Er-Src	breast:	n/a
15	chr3:112463996-112464046	GM12891	blood:	n/a
16	chr3:112512556-112512606	NHBE	bronchial:	n/a
17	chr3:112530978-112531028	MCF10A-Er-Src	breast:	n/a
18	chr3:112541437-112541487	HAEpiC	amniotic membrane:	n/a
19	chr3:112512556-112512606	GM12891	blood:	n/a
20	chr3:112504720-112504770	NT2-D1	testis:	n/a
21	chr3:112463996-112464046	T-47D	breast:	n/a
22	chr3:112392531-112392581	SK-N-MC	brain:	n/a
23	chr3:112407713-112407763	ovcar-3	ovarian:	n/a
24	chr3:112504720-112504770	SK-N-SH_RA	brain:	n/a
25	chr3:112395854-112395904	Jurkat	blood:	n/a
26	chr3:112530978-112531028	Hepatocyte	liver:	n/a
27	chr3:112530978-112531028	LNCaP	prostate:	n/a
28	chr3:112565651-112565701	SKMC	muscle:	n/a
29	chr3:112565651-112565701	AG09309	skin:	n/a
30	chr3:112405614-112405664	RPTEC	kidney:	n/a
31	chr3:112512556-112512606	U87	brain:	n/a
32	chr3:112541437-112541487	AoSMC	blood vessel:	n/a
33	chr3:112463996-112464046	MCF10A-Er-Src	breast:	n/a
34	chr3:112486072-112486122	GM12892	blood:	n/a
35	chr3:112565651-112565701	SK-N-SH_RA	brain:	n/a
36	chr3:112407713-112407763	HL-60	blood:	n/a
37	chr3:112486072-112486122	PANC-1	pancreas:	n/a
38	chr3:112395854-112395904	HCM	heart:	n/a
39	chr3:112405614-112405664	SK-N-MC	brain:	n/a
40	chr3:112541437-112541487	GM12892	blood:	n/a
41	chr3:112390601-112390651	MCF-7	breast:	n/a
42	chr3:112395854-112395904	SK-N-SH_RA	brain:	n/a
43	chr3:112407713-112407763	HPAEpiC	pulmonary alveolar:	n/a
44	chr3:112395854-112395904	HRE	kidney:	n/a
45	chr3:112392531-112392581	RPTEC	kidney:	n/a
46	chr3:112463996-112464046	AG09319	gingival:	n/a
47	chr3:112504720-112504770	HRCEpiC	kidney:	n/a
48	chr3:112405614-112405664	HCM	heart:	n/a
49	chr3:112512556-112512606	HCM	heart:	n/a
50	chr3:112395854-112395904	RPTEC	kidney:	n/a

(count:104 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:112527413..112529549-chr3:112531085..112533830,2	MCF-7	breast:
2	chr3:112429401..112431677-chr3:112432736..112434680,2	K562	blood:
3	chr3:112491625..112493260-chr3:112500816..112503806,2	MCF-7	breast:
4	chr3:112491625..112493260-chr3:112500816..112503806,2	MCF-7	breast:
5	chr3:112524734..112528848-chr3:112531352..112536071,5	MCF-7	breast:
6	chr3:112461762..112464702-chr3:112469113..112471587,3	MCF-7	breast:
7	chr3:112358012..112360504-chr3:112507215..112509927,3	MCF-7	breast:
8	chr3:112506562..112509215-chr3:112510007..112511658,2	MCF-7	breast:
9	chr3:112358533..112360818-chr3:112431237..112433676,2	K562	blood:
10	chr3:112450477..112452136-chr3:112690908..112692794,2	MCF-7	breast:
11	chr3:112385289..112387642-chr3:112388992..112390614,2	K562	blood:
12	chr3:112490402..112493250-chr3:112496311..112501759,4	K562	blood:
13	chr3:112387695..112389279-chr3:112399401..112402386,2	MCF-7	breast:
14	chr3:112361555..112362103-chr3:112413849..112414794,2	MCF-7	breast:
15	chr3:112491264..112493086-chr3:112507198..112509342,2	MCF-7	breast:
16	chr3:112400609..112402894-chr3:112402921..112405427,2	MCF-7	breast:
17	chr3:112355777..112361345-chr3:112530635..112535712,9	MCF-7	breast:
18	chr3:112358089..112359762-chr3:112460166..112463073,2	MCF-7	breast:
19	chr3:112362227..112366265-chr3:112408651..112412487,6	MCF-7	breast:
20	chr3:112529420..112531231-chr3:112543770..112545710,2	MCF-7	breast:
21	chr3:112278451..112281169-chr3:112466155..112467753,2	K562	blood:
22	chr3:112300907..112301738-chr3:112453034..112453898,3	MCF-7	breast:
23	chr3:112452493..112454987-chr3:112455903..112458185,2	K562	blood:
24	chr3:112527413..112529549-chr3:112531085..112533830,2	MCF-7	breast:
25	chr3:112403072..112405454-chr3:112407369..112409970,2	K562	blood:
26	chr3:112453334..112454209-chr3:112532709..112533764,9	MCF-7	breast:
27	chr3:112359771..112362364-chr3:112451864..112454869,4	MCF-7	breast:
28	chr3:112506562..112509215-chr3:112510007..112511658,2	MCF-7	breast:
29	chr3:112465788..112467955-chr3:112468785..112471247,2	K562	blood:
30	chr3:112359489..112361837-chr3:112533181..112535560,3	MCF-7	breast:
31	chr3:112554571..112556501-chr3:112708571..112710291,2	K562	blood:
32	chr3:112453464..112454625-chr3:112532432..112533580,5	MCF-7	breast:
33	chr3:112453063..112455589-chr3:112697859..112700402,2	MCF-7	breast:
34	chr3:112524734..112528848-chr3:112531352..112536071,5	MCF-7	breast:
35	chr3:112453334..112454209-chr3:112532709..112533764,9	MCF-7	breast:
36	chr3:112452493..112454987-chr3:112455903..112458185,2	K562	blood:
37	chr3:112358757..112361044-chr3:112477443..112480156,2	MCF-7	breast:
38	chr3:112382809..112385022-chr3:112393249..112395898,2	MCF-7	breast:
39	chr3:112453633..112454262-chr3:112698168..112698781,2	MCF-7	breast:
40	chr3:112451598..112455262-chr3:112529642..112532611,4	MCF-7	breast:
41	chr3:112366603..112369302-chr3:112395665..112397709,2	MCF-7	breast:
42	chr3:112583600..112585853-chr3:112588194..112590099,2	MCF-7	breast:
43	chr3:112361525..112362326-chr3:112533114..112533631,2	MCF-7	breast:
44	chr3:112520893..112522889-chr3:112524862..112526906,4	MCF-7	breast:
45	chr3:112429401..112431677-chr3:112432736..112434680,2	K562	blood:
46	chr3:112465788..112467955-chr3:112468785..112471247,2	K562	blood:
47	chr3:112359907..112360410-chr3:112448768..112449717,2	MCF-7	breast:
48	chr3:112395899..112398398-chr3:112400973..112403700,2	K562	blood:
49	chr3:112519716..112521811-chr3:112528431..112531172,2	MCF-7	breast:
50	chr3:112393886..112395917-chr3:112708547..112711075,2	K562	blood:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD200R1L-1	chr3:112460546-112460762	XLOC_003218
2	lnc-CD200R1L-1	chr3:112455294-112455543	XLOC_003218
3	lnc-GTPBP8-2	chr3:112538605-112538721	NONHSAT091199
4	lnc-CD200R1L-1	chr3:112468078-112468166	XLOC_003218
5	lnc-GTPBP8-2	chr3:112521913-112522008	ENSG00000242770.2
6	lnc-GTPBP8-2	chr3:112521325-112521495	ENSG00000242770.2
7	lnc-CD200R1L-1	chr3:112458541-112459858	NR_110017
8	lnc-GTPBP8-2	chr3:112531607-112531666	ENSG00000242770.2
9	lnc-SLC35A5-3	chr3:112414248-112415003	NONHSAT091194
10	lnc-CD200R1L-1	chr3:112468078-112468166	NR_110017
11	lnc-CD200R1L-1	chr3:112457525-112457672	XLOC_003218
12	lnc-CD200R1L-1	chr3:112457525-112457672	NR_110017
13	lnc-CD200R1L-1	chr3:112455296-112455543	NR_110017
14	lnc-CD200R1L-1	chr3:112458541-112459858	XLOC_003218
15	lnc-GTPBP8-2	chr3:112539681-112542106	NONHSAT091199
16	lnc-GTPBP8-2	chr3:112521913-112522451	ENSG00000242770.2
17	lnc-GTPBP8-2	chr3:112521443-112521495	ENSG00000242770.2
18	lnc-GTPBP8-2	chr3:112521424-112521495	NONHSAT091199
19	lnc-CD200R1L-1	chr3:112460546-112460762	NR_110017
20	lnc-GTPBP8-2	chr3:112533363-112533574	NONHSAT091199

No data

Variant related genes	Relation type
CD200R1L	TF binding region
ENSG00000240893	TF binding region
ENSG00000242770	TF binding region
ENSG00000242308	TF binding region
CD200R1L	CpG island
ENSG00000240893	CpG island
ENSG00000242770	CpG island
ENSG00000242308	CpG island
ENSG00000272844	chromatin interactions
ENSG00000123178	chromatin interactions
ENSG00000138459	chromatin interactions
ENSG00000091986	chromatin interactions
ENSG00000242770	chromatin interactions
ENSG00000144848	chromatin interactions
ENSG00000163607	chromatin interactions

Extended variants
information (count: 6738 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:6738 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191715341	chr3:112390330-112390331	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78459950	chr3:112390339-112390340	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184315495	chr3:112390388-112390389	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554190504	chr3:112390416-112390417	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571932513	chr3:112390420-112390421	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534398532	chr3:112390431-112390432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1249913	chr3:112390442-112390443	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574068059	chr3:112390512-112390513	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569218574	chr3:112390562-112390563	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536787825	chr3:112390567-112390568	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1249912	chr3:112390578-112390579	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs557989397	chr3:112390618-112390619	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143308999	chr3:112390701-112390702	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113817704	chr3:112390770-112390771	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1249911	chr3:112390794-112390795	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564845402	chr3:112390803-112390804	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11927615	chr3:112390841-112390842	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs527701939	chr3:112390895-112390896	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12054416	chr3:112390975-112390976	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75453036	chr3:112391078-112391079	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139160136	chr3:112391098-112391099	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73214238	chr3:112391099-112391100	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73853955	chr3:112391110-112391111	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188273208	chr3:112391113-112391114	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200213838	chr3:112391130-112391131	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77697147	chr3:112391141-112391142	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs397875397	chr3:112391142-112391143	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368465614	chr3:112391143-112391144	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1249910	chr3:112391174-112391175	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs571994145	chr3:112391187-112391188	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370598532	chr3:112391247-112391248	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547759671	chr3:112391280-112391281	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567877343	chr3:112391294-112391295	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373433169	chr3:112391327-112391328	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536444818	chr3:112391358-112391359	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574056057	chr3:112391368-112391369	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145966166	chr3:112391380-112391381	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138887476	chr3:112391425-112391426	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs180677437	chr3:112391455-112391456	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546195744	chr3:112391470-112391471	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184508663	chr3:112391485-112391486	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542995759	chr3:112391548-112391549	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541348458	chr3:112391556-112391557	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190277708	chr3:112391563-112391564	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182504138	chr3:112391647-112391648	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114345980	chr3:112391660-112391661	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563378399	chr3:112391746-112391747	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141383493	chr3:112391747-112391748	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368983154	chr3:112391772-112391773	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185806707	chr3:112391798-112391799	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:2008 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112387000-112391200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:112387600-112390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:112388000-112395800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:112388600-112392200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr3:112388600-112393200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:112388800-112391400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:112388800-112392000	Enhancers	K562	blood
8	chr3:112389000-112391400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:112389000-112391600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:112389000-112392800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:112389000-112393400	Enhancers	Primary T cells from cord blood	blood
12	chr3:112389000-112394000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr3:112389000-112394000	Enhancers	HSMM	muscle
14	chr3:112389200-112391600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:112389200-112391800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:112389200-112392000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:112389200-112392000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr3:112389200-112392200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:112389200-112396800	Enhancers	Osteobl	bone
20	chr3:112389400-112390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:112389400-112391600	Enhancers	NHEK	skin
22	chr3:112389400-112391800	Enhancers	Hela-S3	cervix
23	chr3:112389400-112392200	Enhancers	HMEC	breast
24	chr3:112389400-112392800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:112389600-112395200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:112389600-112395800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:112389600-112396200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:112389800-112391400	Enhancers	HSMMtube	muscle
29	chr3:112389800-112394200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:112389800-112395200	Enhancers	NHDF-Ad	bronchial
31	chr3:112390000-112391000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:112390000-112391800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr3:112390000-112391800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr3:112390200-112390400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:112390200-112390400	Active TSS	A549	lung
36	chr3:112390200-112391400	Enhancers	NHLF	lung
37	chr3:112390200-112391800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:112390200-112391800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:112390200-112392000	Enhancers	Placenta	Placenta
40	chr3:112390200-112392400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr3:112390200-112393200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:112390200-112393400	Enhancers	NH-A	brain
43	chr3:112390400-112391000	Enhancers	Small Intestine	intestine
44	chr3:112390400-112391600	Flanking Active TSS	A549	lung
45	chr3:112390400-112391800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr3:112390400-112392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:112390400-112392600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:112390400-112393600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:112390400-112395800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:112390600-112391000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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