Variant report

Variant	nsv531967
Chromosome Location	chr5:96127842-96302702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4328)
CpG islands
(count:3054)
Chromatin interactive
region (count:226)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:4328 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:96159625-96159790	K562	blood:	n/a	n/a
2	ARID3A	chr5:96271539-96271791	K562	blood:	n/a	n/a
3	ARID3A	chr5:96272524-96273151	K562	blood:	n/a	n/a
4	ARID3A	chr5:96200597-96201205	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:96193743-96193902	K562	blood:	n/a	n/a
6	ARID3A	chr5:96211609-96212658	K562	blood:	n/a	n/a
7	ARID3A	chr5:96143994-96144433	K562	blood:	n/a	n/a
8	ARID3A	chr5:96210551-96210695	K562	blood:	n/a	n/a
9	ARID3A	chr5:96267508-96267811	K562	blood:	n/a	n/a
10	ARID3A	chr5:96204583-96204966	K562	blood:	n/a	n/a
11	ARID3A	chr5:96298868-96299355	K562	blood:	n/a	n/a
12	ARID3A	chr5:96145889-96146186	K562	blood:	n/a	n/a
13	ARID3A	chr5:96246949-96247173	HepG2	liver:	n/a	n/a
14	ARID3A	chr5:96294815-96295019	HepG2	liver:	n/a	n/a
15	ARID3A	chr5:96268276-96268913	K562	blood:	n/a	n/a
16	ARID3A	chr5:96270757-96271246	K562	blood:	n/a	n/a
17	ARID3A	chr5:96270080-96271882	HepG2	liver:	n/a	n/a
18	ARID3A	chr5:96211530-96212117	HepG2	liver:	n/a	n/a
19	ARID3A	chr5:96221385-96221788	K562	blood:	n/a	n/a
20	ARID3A	chr5:96143189-96143209	K562	blood:	n/a	n/a
21	ARID3A	chr5:96265786-96266362	K562	blood:	n/a	n/a
22	ARID3A	chr5:96159525-96159758	HepG2	liver:	n/a	n/a
23	ARID3A	chr5:96273421-96273578	K562	blood:	n/a	n/a
24	ARID3A	chr5:96176956-96177040	HepG2	liver:	n/a	n/a
25	ATF1	chr5:96298930-96299357	K562	blood:	n/a	n/a
26	ATF1	chr5:96268522-96268881	K562	blood:	n/a	n/a
27	ATF1	chr5:96217392-96217734	K562	blood:	n/a	n/a
28	ATF1	chr5:96264233-96264447	K562	blood:	n/a	n/a
29	ATF1	chr5:96148562-96148914	K562	blood:	n/a	n/a
30	ATF1	chr5:96143943-96144415	K562	blood:	n/a	n/a
31	ATF1	chr5:96174976-96175309	K562	blood:	n/a	n/a
32	ATF1	chr5:96232525-96232873	K562	blood:	n/a	n/a
33	ATF1	chr5:96265781-96266233	K562	blood:	n/a	n/a
34	ATF1	chr5:96184887-96184935	K562	blood:	n/a	n/a
35	ATF1	chr5:96221525-96221969	K562	blood:	n/a	n/a
36	ATF2	chr5:96221313-96222207	GM12878	blood:	n/a	n/a
37	ATF2	chr5:96269341-96272020	GM12878	blood:	n/a	n/a
38	ATF2	chr5:96298827-96299308	GM12878	blood:	n/a	n/a
39	ATF2	chr5:96256765-96257862	GM12878	blood:	n/a	n/a
40	ATF2	chr5:96270359-96270675	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr5:96255265-96255924	GM12878	blood:	n/a	n/a
42	ATF2	chr5:96296553-96297223	GM12878	blood:	n/a	n/a
43	ATF2	chr5:96268494-96269075	GM12878	blood:	n/a	n/a
44	ATF2	chr5:96221343-96222204	GM12878	blood:	n/a	n/a
45	ATF2	chr5:96237052-96237466	GM12878	blood:	n/a	n/a
46	ATF2	chr5:96269349-96271908	GM12878	blood:	n/a	n/a
47	ATF2	chr5:96258003-96258793	GM12878	blood:	n/a	n/a
48	ATF2	chr5:96231794-96233090	GM12878	blood:	n/a	n/a
49	ATF2	chr5:96256477-96257844	GM12878	blood:	n/a	n/a
50	ATF2	chr5:96292850-96294042	GM12878	blood:	n/a	n/a

(count:3054 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:96211703-96211753	GM06990	blood:	n/a
2	chr5:96267912-96267962	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:96271197-96271247	HL-60	blood:	n/a
4	chr5:96144043-96144093	U87	brain:	n/a
5	chr5:96211703-96211753	GM06990	blood:	n/a
6	chr5:96267912-96267962	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:96271197-96271247	HL-60	blood:	n/a
8	chr5:96144043-96144093	U87	brain:	n/a
9	chr5:96211703-96211753	HRPEpiC	eye:	n/a
10	chr5:96143598-96143648	NHBE	bronchial:	n/a
11	chr5:96293511-96293561	HNPCEpiC	eye:	n/a
12	chr5:96293511-96293561	H1-hESC	embryonic stem cell:	embryo
13	chr5:96210344-96210394	GM12891	blood:	n/a
14	chr5:96294187-96294237	H1-hESC	embryonic stem cell:	embryo
15	chr5:96275355-96275405	Hela-S3	cervix:	n/a
16	chr5:96271227-96271277	NB4	blood:	n/a
17	chr5:96253798-96253848	HepG2	liver:	n/a
18	chr5:96271449-96271499	Caco-2	colon:	n/a
19	chr5:96139282-96139332	CMK	blood:	n/a
20	chr5:96271255-96271305	BE2_C	brain:	n/a
21	chr5:96143769-96143819	HAEpiC	amniotic membrane:	n/a
22	chr5:96141721-96141771	U87	brain:	n/a
23	chr5:96144043-96144093	HCPEpiC	choroid plexus:	n/a
24	chr5:96294344-96294394	MCF10A-Er-Src	breast:	n/a
25	chr5:96271216-96271266	AG09309	skin:	n/a
26	chr5:96271967-96272017	NHDF-neo	bronchial:	n/a
27	chr5:96271197-96271247	HMEC	breast:	n/a
28	chr5:96159098-96159148	GM19239	blood:	n/a
29	chr5:96210904-96210954	PrEC	prostate:	n/a
30	chr5:96210344-96210394	GM12878	blood:	n/a
31	chr5:96293389-96293439	SK-N-MC	brain:	n/a
32	chr5:96298493-96298543	HCF	heart:	n/a
33	chr5:96139282-96139332	NHBE	bronchial:	n/a
34	chr5:96256918-96256968	H1-hESC	embryonic stem cell:	embryo
35	chr5:96144101-96144151	CMK	blood:	n/a
36	chr5:96144043-96144093	HCM	heart:	n/a
37	chr5:96139282-96139332	GM06990	blood:	n/a
38	chr5:96144364-96144414	HCM	heart:	n/a
39	chr5:96275355-96275405	HRE	kidney:	n/a
40	chr5:96267912-96267962	ovcar-3	ovarian:	n/a
41	chr5:96143244-96143294	AG09309	skin:	n/a
42	chr5:96152293-96152343	HEK293	kidney:	embryo
43	chr5:96159098-96159148	HEK293	kidney:	embryo
44	chr5:96272218-96272268	AG04449	skin:	fetal
45	chr5:96139282-96139332	GM12878	blood:	n/a
46	chr5:96271967-96272017	HEEpiC	esophagus:	n/a
47	chr5:96211810-96211860	HCT-116	colon:	n/a
48	chr5:96293389-96293439	HRCEpiC	kidney:	n/a
49	chr5:96270930-96270980	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:96270961-96271011	MCF-7	breast:	n/a

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:96087844..96088393-chr5:96158500..96159039,2	MCF-7	breast:
2	chr5:96204788..96206929-chr5:96267621..96272752,5	K562	blood:
3	chr5:96162807..96165795-chr5:96165966..96170084,3	K562	blood:
4	chr5:96227789..96230143-chr5:96233175..96234752,2	MCF-7	breast:
5	chr5:96211294..96213902-chr5:96214706..96216915,2	MCF-7	breast:
6	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
7	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
8	chr5:96203033..96206147-chr5:96270349..96272654,3	MCF-7	breast:
9	chr5:96142635..96145205-chr5:96151658..96154069,4	MCF-7	breast:
10	chr5:96239497..96241968-chr5:96254714..96256341,2	K562	blood:
11	chr5:96210113..96212141-chr5:96215069..96217476,2	K562	blood:
12	chr5:96207915..96210416-chr5:96223446..96226195,4	K562	blood:
13	chr5:96268279..96270263-chr5:96284683..96286210,2	K562	blood:
14	chr5:96268234..96272758-chr5:96290815..96294670,4	K562	blood:
15	chr5:96142184..96145543-chr5:96149000..96152953,5	MCF-7	breast:
16	chr5:96142546..96145890-chr5:96269908..96273049,5	K562	blood:
17	chr5:96156045..96158784-chr5:96268963..96272721,3	MCF-7	breast:
18	chr5:96181045..96183941-chr5:96185024..96186888,2	K562	blood:
19	chr5:96267069..96273023-chr5:96293959..96302488,9	K562	blood:
20	chr5:96125568..96129168-chr5:96132966..96137339,5	K562	blood:
21	chr5:96162807..96165795-chr5:96165966..96170084,3	K562	blood:
22	chr5:96209581..96211533-chr5:96211553..96214538,2	K562	blood:
23	chr5:96125246..96126787-chr5:96129440..96131003,2	K562	blood:
24	chr5:96217428..96219035-chr5:96228350..96229869,2	K562	blood:
25	chr5:96254910..96258387-chr5:96259473..96261476,3	K562	blood:
26	chr5:96258616..96260884-chr5:96271149..96273884,4	MCF-7	breast:
27	chr5:96184835..96188350-chr5:96188739..96192448,3	K562	blood:
28	chr5:96254195..96257346-chr5:96259220..96261586,3	MCF-7	breast:
29	chr5:96185451..96187318-chr5:96190686..96192448,2	K562	blood:
30	chr5:96212214..96214084-chr5:96217203..96219457,3	K562	blood:
31	chr5:96121088..96123332-chr5:96141994..96144285,2	MCF-7	breast:
32	chr5:96153073..96155340-chr5:96156797..96159342,3	K562	blood:
33	chr5:96283195..96285644-chr5:96298077..96300490,2	MCF-7	breast:
34	chr5:96291996..96293570-chr5:96308542..96310853,2	K562	blood:
35	chr5:96142074..96143978-chr5:96212252..96215087,2	K562	blood:
36	chr5:96121324..96124158-chr5:96141331..96143363,2	K562	blood:
37	chr5:96129620..96132075-chr5:96136043..96138068,3	MCF-7	breast:
38	chr5:96255625..96258387-chr5:96259524..96261476,2	K562	blood:
39	chr5:96293790..96295520-chr5:96295788..96298658,2	K562	blood:
40	chr5:96142853..96144823-chr5:96166082..96168547,3	MCF-7	breast:
41	chr5:96270007..96273203-chr5:96295277..96299165,4	K562	blood:
42	chr5:96268592..96270496-chr5:96515475..96517242,2	MCF-7	breast:
43	chr5:96285264..96287283-chr5:96291106..96292923,2	K562	blood:
44	chr5:96140146..96144558-chr5:96269495..96273172,12	MCF-7	breast:
45	chr5:96284375..96286567-chr5:96287719..96289798,2	MCF-7	breast:
46	chr5:96239497..96241968-chr5:96254714..96256341,2	K562	blood:
47	chr5:96153135..96156038-chr5:96157520..96159852,2	MCF-7	breast:
48	chr5:96268639..96272344-chr5:96281441..96284231,4	K562	blood:
49	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:
50	chr5:96142480..96144283-chr5:96175834..96178694,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LNPEP-5	chr5:96235825-96235946	NONHSAT102914
2	lnc-CAST-6	chr5:96140056-96140185	ENSG00000272109.1
3	lnc-CAST-6	chr5:96141462-96141805	ENSG00000272109.1
4	lnc-CTD-2260A17.2.1-1	chr5:96269826-96271513	NONHSAT102912
5	lnc-ERAP2-1	chr5:96278003-96278072	NONHSAT102917
6	lnc-CTD-2260A17.2.1-1	chr5:96149731-96150013	NONHSAT102912
7	lnc-CTD-2260A17.2.1-1	chr5:96208989-96209081	NONHSAT102912
8	lnc-CTD-2260A17.2.1-1	chr5:96269826-96270486	NONHSAT102915
9	lnc-CTD-2260A17.2.1-1	chr5:96208989-96209081	NONHSAT102913
10	lnc-CTD-2260A17.2.1-1	chr5:96259748-96259780	NONHSAT102915
11	lnc-CTD-2260A17.2.1-1	chr5:96184395-96184526	NONHSAT102913
12	lnc-LNPEP-5	chr5:96232276-96232567	NONHSAT102914
13	lnc-LNPEP-1	chr5:96271698-96273470	NONHSAT102916
14	lnc-CTD-2260A17.2.1-1	chr5:96158640-96158820	NONHSAT102912
15	lnc-LNPEP-1	chr5:96271098-96271399	NONHSAT102916
16	lnc-CAST-6	chr5:96141370-96141808	ENSG00000272109.1
17	lnc-CTD-2260A17.2.1-1	chr5:96209218-96209355	NONHSAT102913
18	lnc-ERAP2-1	chr5:96278597-96278888	NONHSAT102917

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ERAP2	hsa-let-7b-5p	chr5:96244693-96244714
2	ERAP2	hsa-miR-26b-5p	chr5:96224941-96224963

Variant related genes	Relation type
ENSG00000272109	TF binding region
ERAP1	TF binding region
LNPEP	TF binding region
ERAP2	TF binding region
ENSG00000247121	TF binding region
ENSG00000227836	TF binding region
ENSG00000200884	TF binding region
ENSG00000272109	CpG island
ERAP1	CpG island
LNPEP	CpG island
ERAP2	CpG island
ENSG00000247121	CpG island
ENSG00000227836	CpG island
ENSG00000200884	CpG island
ENSG00000237441	chromatin interactions
ENSG00000145721	chromatin interactions
ENSG00000267598	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000200884	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000113441	chromatin interactions
ENSG00000253513	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000164308	chromatin interactions
ENSG00000153113	chromatin interactions
ENSG00000251513	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000272109	chromatin interactions
ENSG00000058729	chromatin interactions
ENSG00000227836	chromatin interactions
ENSG00000175166	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000248734	chromatin interactions
ENSG00000264129	chromatin interactions
ENSG00000247121	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000249180	chromatin interactions

Extended variants
information (count: 6748 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:6748 , 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	rs573281746	chr5:96127855-96127856	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs375684249	chr5:96127862-96127863	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs376696268	chr5:96127865-96127866	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs145458413	chr5:96127866-96127867	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs181668902	chr5:96127868-96127869	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs148857249	chr5:96127893-96127894	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs27640	chr5:96127905-96127906	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs550785177	chr5:96127946-96127947	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs367924156	chr5:96127961-96127962	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs530230091	chr5:96127972-96127973	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs376148797	chr5:96127991-96127992	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs80144245	chr5:96128022-96128023	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566784762	chr5:96128144-96128145	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534321910	chr5:96128159-96128160	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116066748	chr5:96128211-96128212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186869808	chr5:96128258-96128259	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs3797805	chr5:96128299-96128300	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538754718	chr5:96128308-96128309	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs534029803	chr5:96128359-96128360	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs556775936	chr5:96128378-96128379	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs26512	chr5:96128400-96128401	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs3839298	chr5:96128433-96128434	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs397955091	chr5:96128435-96128436	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34976069	chr5:96128453-96128454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192106869	chr5:96128503-96128504	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183930825	chr5:96128506-96128507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554904107	chr5:96128538-96128539	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs186761105	chr5:96128552-96128553	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571333933	chr5:96128560-96128561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370372306	chr5:96128590-96128591	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540643314	chr5:96128606-96128607	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs373582000	chr5:96128641-96128642	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs144889745	chr5:96128706-96128707	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs75381667	chr5:96128781-96128782	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577149904	chr5:96128810-96128811	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546530163	chr5:96128859-96128860	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201279135	chr5:96128861-96128862	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs544740304	chr5:96128870-96128871	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs77311599	chr5:96128962-96128963	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs530326180	chr5:96129010-96129011	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs548448178	chr5:96129048-96129049	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs557064041	chr5:96129066-96129067	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs367898544	chr5:96129071-96129072	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs560435319	chr5:96129072-96129073	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs372059653	chr5:96129078-96129079	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs373571843	chr5:96129102-96129103	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs367830305	chr5:96129127-96129128	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs528011637	chr5:96129214-96129215	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs371823358	chr5:96129254-96129255	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs552431298	chr5:96129295-96129296	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:5523 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:96089200-96137000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:96097400-96130000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr5:96097400-96131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:96097400-96138400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr5:96097800-96131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:96098000-96129600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:96098000-96137000	Strong transcription	Fetal Lung	lung
10	chr5:96098000-96137600	Strong transcription	Fetal Thymus	thymus
11	chr5:96098200-96128000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr5:96104200-96136400	Strong transcription	Dnd41	blood
13	chr5:96107600-96129600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:96107800-96138200	Strong transcription	GM12878-XiMat	blood
15	chr5:96108000-96129600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:96110200-96130200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:96110600-96130400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:96113800-96137200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:96114600-96131000	Weak transcription	Fetal Brain Male	brain
20	chr5:96114800-96131200	Weak transcription	Right Ventricle	heart
21	chr5:96115200-96141200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:96115400-96142000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:96116200-96141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:96117400-96137000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr5:96117600-96131800	Strong transcription	Liver	Liver
26	chr5:96119000-96130800	Weak transcription	Psoas Muscle	Psoas
27	chr5:96119000-96142000	Weak transcription	A549	lung
28	chr5:96120800-96129800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:96120800-96130000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:96121600-96128600	Weak transcription	HSMM	muscle
31	chr5:96123600-96137000	Strong transcription	Primary B cells from cord blood	blood
32	chr5:96123800-96128000	Strong transcription	Thymus	Thymus
33	chr5:96123800-96137200	Strong transcription	Adipose Nuclei	Adipose
34	chr5:96124000-96130400	Strong transcription	Primary T cells from cord blood	blood
35	chr5:96124600-96131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:96124600-96136800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:96124800-96129600	Weak transcription	Colonic Mucosa	Colon
38	chr5:96124800-96130000	Weak transcription	Aorta	Aorta
39	chr5:96124800-96130000	Weak transcription	Esophagus	oesophagus
40	chr5:96125200-96128000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:96125800-96128000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:96125800-96128800	Weak transcription	Hela-S3	cervix
43	chr5:96126000-96131600	Weak transcription	Fetal Kidney	kidney
44	chr5:96126000-96133200	Strong transcription	HepG2	liver
45	chr5:96126800-96131800	Weak transcription	Fetal Brain Female	brain
46	chr5:96126800-96135600	Weak transcription	Fetal Heart	heart
47	chr5:96126800-96142800	Weak transcription	Brain Germinal Matrix	brain
48	chr5:96127000-96128000	Strong transcription	Left Ventricle	heart
49	chr5:96127000-96135400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:96127000-96140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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