Variant report

Variant	rs74119639
Chromosome Location	chr1:145384130-145384131
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr1:145383652-145384571	K562	blood:	n/a	n/a
2	POU2F2	chr1:145384082-145384526	GM12878	blood:	n/a	n/a
3	FOXA2	chr1:145384120-145384422	A549	lung:	n/a	n/a
4	POLR2A	chr1:145384111-145384486	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:145383687-145384447	GM12878	blood:	n/a	n/a
6	FOXA2	chr1:145384108-145384341	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:145384093-145384499	GM12878	blood:	n/a	n/a
8	HEY1	chr1:145384065-145384390	HepG2	liver:	n/a	n/a
9	SP1	chr1:145383720-145384850	HepG2	liver:	n/a	n/a
10	HEY1	chr1:145383676-145384822	HepG2	liver:	n/a	n/a
11	FOXA1	chr1:145383899-145384893	HepG2	liver:	n/a	n/a
12	HNF4G	chr1:145384106-145384334	HepG2	liver:	n/a	chr1:145384218-145384230 chr1:145384215-145384233 chr1:145384218-145384231 chr1:145384217-145384230 chr1:145384215-145384230 chr1:145384218-145384226 chr1:145384217-145384230 chr1:145384219-145384231 chr1:145384217-145384231 chr1:145384218-145384230
13	POLR2A	chr1:145383898-145384505	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:145384009-145384347	HepG2	liver:	n/a	n/a
15	JUND	chr1:145384130-145384389	HepG2	liver:	n/a	n/a

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:144989394..144991643-chr1:145383439..145385394,2	K562	blood:
2	chr1:145290091..145292740-chr1:145382337..145384639,2	MCF-7	breast:
3	chr1:145379178..145384447-chr1:149221650..149226208,18	MCF-7	breast:
4	chr1:145382999..145384586-chr17:49230281..49232351,2	MCF-7	breast:
5	chr1:145380937..145386297-chr1:145506337..145510366,6	MCF-7	breast:
6	chr1:145138455..145140955-chr1:145381729..145384293,2	MCF-7	breast:
7	chr1:145381739..145384542-chr1:145435430..145438721,5	MCF-7	breast:
8	chr1:145381529..145386275-chr1:145468516..145473558,10	K562	blood:
9	chr1:145382766..145384634-chr20:46418172..46420741,2	MCF-7	breast:
10	chr1:145381421..145384908-chr1:145408929..145417696,14	MCF-7	breast:
11	chr1:145381926..145385386-chr1:145586664..145591054,3	K562	blood:
12	chr1:144929695..144933397-chr1:145381616..145384279,4	MCF-7	breast:
13	chr1:145382892..145385742-chr1:145548741..145550331,2	MCF-7	breast:
14	chr1:145381488..145384463-chr1:173835687..173838502,2	K562	blood:
15	chr1:145381325..145384752-chr1:145468281..145472411,8	MCF-7	breast:
16	chr1:145382934..145384561-chr1:145541431..145543797,2	MCF-7	breast:
17	chr1:144993854..144995667-chr1:145381995..145384401,2	K562	blood:
18	chr1:145381192..145384213-chr1:145513953..145517883,5	K562	blood:
19	chr1:145381585..145384365-chr1:145541631..145545070,3	K562	blood:
20	chr1:145381466..145384269-chr1:145514221..145517320,3	K562	blood:
21	chr1:145382865..145384662-chr5:177632094..177634177,2	MCF-7	breast:
22	chr1:145381407..145384364-chr17:56734913..56736729,3	MCF-7	breast:
23	chr1:145208214..145210170-chr1:145381446..145384467,3	MCF-7	breast:
24	chr1:145379807..145384578-chr1:149221277..149226175,8	K562	blood:
25	chr1:145381474..145385320-chr1:145609524..145612680,3	K562	blood:
26	chr1:145137959..145140660-chr1:145381811..145384748,2	K562	blood:
27	chr1:144996607..145000491-chr1:145382842..145385780,3	K562	blood:
28	chr1:145381565..145384248-chr20:17661337..17663594,2	MCF-7	breast:
29	chr1:145381405..145384694-chr1:145511956..145517470,7	MCF-7	breast:
30	chr1:144930971..144932699-chr1:145382569..145384639,2	MCF-7	breast:
31	chr1:145382445..145384659-chr7:27230389..27233272,2	K562	blood:
32	chr1:145382934..145384596-chr17:57915348..57917501,2	MCF-7	breast:
33	chr1:144995928..144998719-chr1:145383813..145386385,2	K562	blood:
34	chr1:145382523..145385731-chr1:145573512..145577753,6	K562	blood:
35	chr1:145381800..145384680-chr2:85821996..85823962,2	MCF-7	breast:
36	chr1:145087779..145091493-chr1:145381530..145384517,3	MCF-7	breast:
37	chr1:145381376..145384239-chr17:58601344..58603429,2	MCF-7	breast:
38	chr1:145381438..145386194-chr1:145434088..145442772,20	K562	blood:
39	chr1:144532552..144536277-chr1:145382371..145384454,4	K562	blood:
40	chr1:145380733..145384556-chr1:145505855..145508677,5	MCF-7	breast:
41	chr1:145381396..145385731-chr1:145572430..145577753,7	K562	blood:
42	chr1:145374045..145378813-chr1:145381593..145384779,5	MCF-7	breast:
43	chr1:145382774..145384414-chr1:145436877..145440342,3	MCF-7	breast:
44	chr1:145379802..145384450-chr1:145513670..145517902,5	MCF-7	breast:
45	chr1:145382844..145384540-chr1:145443517..145445443,2	MCF-7	breast:
46	chr1:145381491..145385233-chr1:145505736..145509112,5	K562	blood:
47	chr1:145381258..145386194-chr1:145434301..145446043,20	K562	blood:
48	chr1:145381393..145385302-chr1:145468144..145470495,5	K562	blood:
49	chr1:145381407..145386634-chr1:145407625..145413975,7	K562	blood:
50	chr1:145381429..145384436-chr1:145412882..145415666,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233396	TF binding region
ENSG00000125844	Chromatin interaction
ENSG00000243678	Chromatin interaction
ENSG00000168894	Chromatin interaction
ENSG00000177144	Chromatin interaction
ENSG00000069869	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000211451	Chromatin interaction
ENSG00000131779	Chromatin interaction
ENSG00000255168	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000108384	Chromatin interaction
ENSG00000244619	Chromatin interaction
ENSG00000131795	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000271546	Chromatin interaction
ENSG00000213240	Chromatin interaction
ENSG00000239672	Chromatin interaction
ENSG00000181039	Chromatin interaction
ENSG00000178104	Chromatin interaction
ENSG00000121851	Chromatin interaction
ENSG00000234222	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000131788	Chromatin interaction
ENSG00000198483	Chromatin interaction
ENSG00000186141	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000121101	Chromatin interaction
ENSG00000168509	Chromatin interaction
ENSG00000253508	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000117289	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000152022	Chromatin interaction
ENSG00000186364	Chromatin interaction
ENSG00000011052	Chromatin interaction
ENSG00000121848	Chromatin interaction
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10218795	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10910815	0.82[AMR][1000 genomes]
rs12059935	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12086156	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12088164	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12088906	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12088956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12091337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12091564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16827051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16827081	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6667334	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72701855	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72701859	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7526224	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7551245	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7551884	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005055	chr1:144893406-145792052	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
2	esv1822839	chr1:144902232-145393578	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	266 gene(s)	inside rSNPs	diseases
3	esv1826561	chr1:144902232-145393578	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	266 gene(s)	inside rSNPs	diseases
4	esv1849727	chr1:144902232-145393578	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	266 gene(s)	inside rSNPs	diseases
5	nsv1003688	chr1:144949963-145398179	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	257 gene(s)	inside rSNPs	diseases
6	nsv432720	chr1:144956393-145727683	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
7	nsv998771	chr1:144986365-145687024	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	362 gene(s)	inside rSNPs	diseases
8	nsv535079	chr1:144986365-145687024	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	362 gene(s)	inside rSNPs	diseases
9	nsv933296	chr1:144994945-145740657	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	359 gene(s)	inside rSNPs	diseases
10	nsv427752	chr1:145057218-145483353	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	307 gene(s)	inside rSNPs	diseases
11	nsv1000082	chr1:145081821-145687024	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	347 gene(s)	inside rSNPs	diseases
12	nsv535081	chr1:145081821-145687024	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	347 gene(s)	inside rSNPs	diseases
13	esv1824820	chr1:145086810-145393578	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	233 gene(s)	inside rSNPs	diseases
14	nsv998789	chr1:145100386-145406787	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	226 gene(s)	inside rSNPs	diseases
15	nsv1013638	chr1:145172973-146012524	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
16	esv1828621	chr1:145176656-145393578	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	215 gene(s)	inside rSNPs	diseases
17	nsv831337	chr1:145189320-145393470	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	215 gene(s)	inside rSNPs	diseases
18	esv1846276	chr1:145197749-145384335	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	213 gene(s)	inside rSNPs	diseases
19	esv1816073	chr1:145197749-145388977	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	215 gene(s)	inside rSNPs	diseases
20	esv2422428	chr1:145259792-145609308	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
21	nsv2677	chr1:145260675-145392668	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
22	nsv1002731	chr1:145276259-145792052	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	327 gene(s)	inside rSNPs	diseases
23	nsv508582	chr1:145285203-145387361	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
24	nsv946260	chr1:145289780-145384172	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	209 gene(s)	inside rSNPs	diseases
25	nsv831359	chr1:145290956-145451472	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	248 gene(s)	inside rSNPs	diseases
26	nsv532247	chr1:145291698-146037042	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
27	esv1804782	chr1:145292223-145387936	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
28	esv1805421	chr1:145293280-145385586	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
29	nsv433348	chr1:145294531-145385675	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
30	nsv872223	chr1:145294531-145394955	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
31	nsv532393	chr1:145304668-145738275	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	325 gene(s)	inside rSNPs	diseases
32	nsv511125	chr1:145310197-145394955	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	210 gene(s)	inside rSNPs	diseases
33	nsv532248	chr1:145310253-145899398	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
34	nsv872224	chr1:145341400-145900678	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
35	nsv948894	chr1:145366695-145727683	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
36	nsv432731	chr1:145366956-145727956	Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
37	nsv872225	chr1:145367196-145900678	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
38	nsv918206	chr1:145372550-145792052	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
39	nsv918131	chr1:145372550-146012524	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
40	nsv1007296	chr1:145372551-145792052	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
41	nsv917908	chr1:145372551-145932457	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
42	esv2761653	chr1:145382124-145932468	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs74119639	NOTCH2NL	cis	Esophagus Muscularis	GTEx
rs74119639	NOTCH2NL	cis	lung	GTEx
rs74119639	NOTCH2NL	cis	Whole Blood	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145382000-145384800	Active TSS	A549	lung
2	chr1:145382800-145384800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:145382800-145390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:145383000-145385000	Weak transcription	Pancreas	Pancrea
5	chr1:145383000-145385200	Weak transcription	Lung	lung
6	chr1:145383200-145385800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:145383200-145385800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:145383400-145384400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:145383400-145384400	Enhancers	Hela-S3	cervix
10	chr1:145383400-145384600	Enhancers	Liver	Liver
11	chr1:145383400-145385000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:145383400-145385000	Enhancers	Fetal Intestine Large	intestine
13	chr1:145383400-145385200	Enhancers	Fetal Intestine Small	intestine
14	chr1:145383400-145385400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:145383400-145385400	Weak transcription	Fetal Thymus	thymus
16	chr1:145383400-145385600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:145383400-145385600	Weak transcription	Osteobl	bone
18	chr1:145383400-145385800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:145383400-145385800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:145383400-145385800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:145383400-145386000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:145383400-145395200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:145383600-145385200	Weak transcription	Placenta	Placenta
24	chr1:145383800-145385000	Flanking Active TSS	HepG2	liver
25	chr1:145384000-145385000	Weak transcription	Primary B cells from cord blood	blood
26	chr1:145384000-145385400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:145384000-145385600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:145384000-145385800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:145384000-145385800	Weak transcription	Dnd41	blood
30	chr1:145384000-145386000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:145384000-145386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:145384000-145387800	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links