Variant report

Variant	rs56363154
Chromosome Location	chr2:51260436-51260437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr2:51259125-51260529	H1-hESC	embryonic stem cell:	n/a	chr2:51259579-51259591 chr2:51259581-51259590 chr2:51259579-51259591 chr2:51259575-51259588 chr2:51259580-51259589 chr2:51259581-51259590
2	SP1	chr2:51258917-51260558	H1-hESC	embryonic stem cell:	n/a	chr2:51259086-51259095 chr2:51259579-51259591 chr2:51259084-51259096 chr2:51259085-51259099 chr2:51259581-51259590 chr2:51259080-51259094 chr2:51259579-51259591 chr2:51259575-51259588 chr2:51259580-51259589 chr2:51259581-51259590
3	RAD21	chr2:51259011-51260542	H1-hESC	embryonic stem cell:	n/a	chr2:51259577-51259587
4	REST	chr2:51258986-51260464	H1-hESC	embryonic stem cell:	n/a	chr2:51259441-51259454 chr2:51259434-51259454 chr2:51259393-51259402 chr2:51259524-51259537 chr2:51259434-51259454 chr2:51259434-51259448 chr2:51259435-51259453 chr2:51259389-51259399 chr2:51259521-51259534 chr2:51259440-51259449 chr2:51259434-51259454
5	SIN3A	chr2:51258989-51260482	H1-hESC	embryonic stem cell:	n/a	chr2:51259390-51259399 chr2:51259441-51259454 chr2:51259435-51259449 chr2:51259440-51259450
6	REST	chr2:51257890-51260488	H1-neurons	neurons:	n/a	chr2:51259441-51259454 chr2:51259434-51259454 chr2:51259393-51259402 chr2:51259524-51259537 chr2:51259434-51259454 chr2:51258742-51258762 chr2:51259434-51259448 chr2:51259435-51259453 chr2:51259389-51259399 chr2:51259521-51259534 chr2:51259440-51259449 chr2:51259434-51259454

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51260399-51260449	AG04450	lung:	fetal
2	chr2:51260399-51260449	GM19239	blood:	n/a
3	chr2:51260399-51260449	ECC-1	luminal epithelium:	n/a
4	chr2:51260399-51260449	HL-60	blood:	n/a
5	chr2:51260399-51260449	H1-hESC	embryonic stem cell:	embryo
6	chr2:51260399-51260449	NB4	blood:	n/a
7	chr2:51260399-51260449	PrEC	prostate:	n/a
8	chr2:51260399-51260449	HIPEpiC	eye:	n/a
9	chr2:51260399-51260449	NT2-D1	testis:	n/a
10	chr2:51260399-51260449	U87	brain:	n/a
11	chr2:51260399-51260449	SAEC	small airway:	n/a
12	chr2:51260399-51260449	RPTEC	kidney:	n/a
13	chr2:51260399-51260449	HCT-116	colon:	n/a
14	chr2:51260399-51260449	ProgFib	skin:	n/a
15	chr2:51260399-51260449	HRCEpiC	kidney:	n/a
16	chr2:51260399-51260449	MCF-7	breast:	n/a
17	chr2:51260399-51260449	HepG2	liver:	n/a
18	chr2:51260399-51260449	Caco-2	colon:	n/a
19	chr2:51260399-51260449	HNPCEpiC	eye:	n/a
20	chr2:51260399-51260449	BJ	skin:	n/a
21	chr2:51260399-51260449	HCF	heart:	n/a
22	chr2:51260399-51260449	ovcar-3	ovarian:	n/a
23	chr2:51260399-51260449	LNCaP	prostate:	n/a
24	chr2:51260399-51260449	AG10803	skin:	n/a
25	chr2:51260399-51260449	K562	blood:	n/a
26	chr2:51260399-51260449	HCM	heart:	n/a
27	chr2:51260399-51260449	Hela-S3	cervix:	n/a
28	chr2:51260399-51260449	AoSMC	blood vessel:	n/a
29	chr2:51260399-51260449	PFSK-1	brain:	n/a
30	chr2:51260399-51260449	AG09309	skin:	n/a
31	chr2:51260399-51260449	HEK293	kidney:	embryo
32	chr2:51260399-51260449	GM06990	blood:	n/a
33	chr2:51260399-51260449	CMK	blood:	n/a
34	chr2:51260399-51260449	HCPEpiC	choroid plexus:	n/a
35	chr2:51260399-51260449	SK-N-MC	brain:	n/a
36	chr2:51260399-51260449	HAEpiC	amniotic membrane:	n/a
37	chr2:51260399-51260449	NHBE	bronchial:	n/a
38	chr2:51260399-51260449	HMEC	breast:	n/a
39	chr2:51260399-51260449	T-47D	breast:	n/a
40	chr2:51260399-51260449	HEEpiC	esophagus:	n/a
41	chr2:51260399-51260449	HRE	kidney:	n/a
42	chr2:51260399-51260449	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:51260399-51260449	NHDF-neo	bronchial:	n/a
44	chr2:51260399-51260449	HUVEC	blood vessel:	n/a
45	chr2:51260399-51260449	SK-N-SH_RA	brain:	n/a
46	chr2:51260399-51260449	HRPEpiC	eye:	n/a
47	chr2:51260399-51260449	BE2_C	brain:	n/a
48	chr2:51260399-51260449	PANC-1	pancreas:	n/a
49	chr2:51260399-51260449	Hepatocyte	liver:	n/a
50	chr2:51260399-51260449	AG09319	gingival:	n/a

Variant related genes	Relation type
NRXN1	TF binding region
NRXN1	CpG island

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10490163	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10490164	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10490166	0.86[ASN][1000 genomes]
rs10490167	0.85[ASN][1000 genomes]
rs11694753	0.99[ASN][1000 genomes]
rs12621330	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12990172	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12993750	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12999714	0.85[ASN][1000 genomes]
rs13000250	0.81[ASN][1000 genomes]
rs13008752	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13021621	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13022010	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13023341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13028294	0.86[ASN][1000 genomes]
rs13031157	0.86[ASN][1000 genomes]
rs13033016	0.86[ASN][1000 genomes]
rs13382584	0.99[ASN][1000 genomes]
rs17512708	0.85[ASN][1000 genomes]
rs17514717	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17514766	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17573413	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17574342	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2024513	0.81[ASN][1000 genomes]
rs2163018	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2352541	0.83[ASN][1000 genomes]
rs2352542	0.83[ASN][1000 genomes]
rs34684671	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35228545	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35296842	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35397701	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36106628	0.83[ASN][1000 genomes]
rs55761287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58519896	0.84[ASN][1000 genomes]
rs58624935	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66496530	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66971536	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6714295	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6718913	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67661616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68180403	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71411519	0.86[ASN][1000 genomes]
rs7557525	0.94[ASN][1000 genomes]
rs7567632	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7567909	0.82[EUR][1000 genomes]
rs7571051	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7574611	0.86[ASN][1000 genomes]
rs7578780	0.81[ASN][1000 genomes]
rs7599370	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs918138	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs918139	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs933585	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001435	chr2:50811382-51396921	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2763321	chr2:50837494-51353386	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv932208	chr2:50847100-51556715	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv949061	chr2:50897511-51336029	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1002086	chr2:50912161-51405061	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv948592	chr2:50927534-51261060	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1008799	chr2:50934561-51464680	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv535698	chr2:50934561-51464680	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv532683	chr2:50937444-51314430	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv581848	chr2:50938959-51345515	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv874046	chr2:50947044-51279394	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv931589	chr2:50962008-51260667	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv532685	chr2:50964848-51400694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933276	chr2:50968453-51314430	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv915824	chr2:50978466-51528474	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv581853	chr2:51013647-51554047	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv999668	chr2:51037103-51314431	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv535700	chr2:51037103-51314431	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv530389	chr2:51037104-51446873	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv932980	chr2:51038374-51314430	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv933852	chr2:51039094-51272266	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1001490	chr2:51046996-51271073	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv535701	chr2:51046996-51271073	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv1007652	chr2:51046996-51304366	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1004335	chr2:51046996-51358191	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv535702	chr2:51046996-51358191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv581859	chr2:51047313-51280517	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv931853	chr2:51066578-51260667	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv997854	chr2:51074517-51271073	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv1002692	chr2:51074517-51304366	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv1014907	chr2:51074517-51532889	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
32	nsv581862	chr2:51077569-51335858	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	nsv532687	chr2:51083410-51382872	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
34	esv2830373	chr2:51083410-51426171	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv933039	chr2:51099263-51402457	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv1000086	chr2:51107014-51420538	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
37	nsv874054	chr2:51108133-51451120	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
38	nsv933220	chr2:51129464-51513892	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
39	nsv1014770	chr2:51135645-51324648	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
40	nsv1006515	chr2:51135645-51358191	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
41	nsv535703	chr2:51135645-51358191	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
42	nsv1005988	chr2:51135645-51500590	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
43	nsv1007188	chr2:51135645-51821787	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
44	nsv535704	chr2:51135645-51821787	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
45	nsv1005168	chr2:51142848-51702008	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
46	nsv535705	chr2:51142848-51702008	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
47	nsv533262	chr2:51142849-51510961	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
48	nsv932845	chr2:51149561-51462892	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
49	nsv949438	chr2:51152019-51388866	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
50	nsv948449	chr2:51152019-51735494	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51257800-51260600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr2:51258200-51260600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:51258400-51260600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:51258400-51260600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:51258600-51260600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:51258800-51260600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:51259000-51260600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:51260200-51260600	Flanking Active TSS	Fetal Brain Female	brain
9	chr2:51260400-51260600	Active TSS	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links