Variant report

Variant	rs1972657
Chromosome Location	chr16:70100429-70100430
allele	C/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	chr16:70099344-70100592	A549	lung:	n/a	chr16:70099885-70099897 chr16:70099436-70099445 chr16:70099436-70099445 chr16:70099885-70099897 chr16:70099437-70099446 chr16:70099435-70099447
2	HCFC1	chr16:70099554-70100498	Hela-S3	cervix:	n/a	n/a
3	MYBL2	chr16:70099542-70100465	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:70099454-70100480	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr16:70099372-70100590	SK-N-MC	brain:	n/a	n/a
6	MYBL2	chr16:70099534-70100548	HepG2	liver:	n/a	n/a
7	HEY1	chr16:70098871-70100517	HepG2	liver:	n/a	chr16:70099818-70099833 chr16:70099780-70099795 chr16:70099771-70099786 chr16:70099700-70099715
8	POLR2A	chr16:70100080-70100429	HCT-116	colon:	n/a	n/a
9	SIN3AK20	chr16:70099536-70100521	HepG2	liver:	n/a	n/a
10	SP1	chr16:70099466-70100497	A549	lung:	n/a	chr16:70099885-70099897 chr16:70099885-70099897
11	POLR2A	chr16:70098964-70100609	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr16:70100037-70100452	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr16:70099498-70100460	Hela-S3	cervix:	n/a	n/a
14	TBP	chr16:70100292-70100500	Hela-S3	cervix:	n/a	n/a
15	IRF4	chr16:70100237-70100574	GM12878	blood:	n/a	n/a
16	SIX5	chr16:70099618-70100479	A549	lung:	n/a	n/a
17	SIN3AK20	chr16:70099437-70100432	A549	lung:	n/a	n/a
18	POLR2A	chr16:70099323-70100561	U87	brain:	n/a	n/a
19	POLR2A	chr16:70099383-70100526	MCF-7	breast:	n/a	n/a
20	GATA2	chr16:70100321-70100582	K562	blood:	n/a	n/a
21	TAF1	chr16:70098562-70100564	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr16:70099798-70100536	HepG2	liver:	n/a	n/a
23	SIN3AK20	chr16:70099295-70100471	SK-N-SH	brain:	n/a	n/a
24	TAF1	chr16:70099559-70100604	Hela-S3	cervix:	n/a	n/a
25	SREBP1	chr16:70099612-70100433	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:70099413-70100436	K562	blood:	n/a	n/a
27	POLR2A	chr16:70099482-70100488	SK-N-SH	brain:	n/a	n/a
28	JUND	chr16:70099523-70100445	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr16:70100024-70100472	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr16:70100387-70100561	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:70099019-70100461	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr16:70099594-70100490	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr16:70099376-70100536	PFSK-1	brain:	n/a	n/a
34	MXI1	chr16:70099390-70100566	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr16:70098235-70100436	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:70100009-70100494	HepG2	liver:	n/a	n/a
37	FOSL2	chr16:70099503-70100458	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:70099499-70100520	HepG2	liver:	n/a	n/a
39	TAF1	chr16:70099483-70100449	A549	lung:	n/a	n/a
40	POLR2A	chr16:70099192-70100650	H1-hESC	embryonic stem cell:	n/a	n/a
41	NR2F2	chr16:70098777-70100515	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:15066889..15068819-chr16:70099825..70101888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255185	TF binding region
PDXDC2P	TF binding region
ENSG00000179889	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10459794	0.87[EUR][1000 genomes]
rs11644448	0.81[EUR][1000 genomes]
rs11647492	0.88[EUR][1000 genomes]
rs13331243	0.83[AMR][1000 genomes]
rs3865162	0.84[EUR][1000 genomes]
rs8060185	0.85[EUR][1000 genomes]
rs9302610	0.88[EUR][1000 genomes]
rs9934423	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	96 gene(s)	inside rSNPs	diseases
7	nsv1853	chr16:69962296-70268856	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	esv1824931	chr16:69968850-70230516	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
9	esv1829372	chr16:69968850-70230516	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised 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 miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	esv2754644	chr16:69971965-70191118	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	esv1823631	chr16:69975086-70103765	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1058789	chr16:69976021-70180213	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	esv2762188	chr16:69976033-70281778	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv906824	chr16:69976479-70191333	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
16	nsv906825	chr16:69976479-70242125	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
17	nsv827716	chr16:69976588-70237575	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
18	esv1821617	chr16:69976907-70103765	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1056685	chr16:69977397-70198384	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
20	esv1819878	chr16:69977698-70107795	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
21	esv1820498	chr16:69977698-70110468	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
22	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
23	esv1842931	chr16:69988100-70104711	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
24	esv1804280	chr16:69988100-70230516	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
25	esv1802826	chr16:69988100-70287669	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
26	nsv1057982	chr16:69988374-70110034	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
27	nsv1056602	chr16:69988374-70119741	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
28	nsv1060404	chr16:69988374-70125162	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
29	nsv1056988	chr16:69988374-70139542	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
30	nsv1059337	chr16:69988374-70180213	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
31	nsv1060556	chr16:69988374-70186126	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
32	nsv1065878	chr16:69988374-70187182	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
33	nsv1057434	chr16:69988374-70198384	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
34	nsv1063690	chr16:69988374-70213032	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
35	nsv906826	chr16:69990319-70126765	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA	9 gene(s)	inside rSNPs	diseases
36	nsv906827	chr16:69990319-70141487	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
37	nsv906828	chr16:69990319-70157568	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
38	nsv906829	chr16:69990319-70170186	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
39	nsv906830	chr16:69990319-70182025	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
40	nsv906831	chr16:69990319-70196312	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
41	nsv906832	chr16:69990319-70207808	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
42	nsv906833	chr16:69990319-70218367	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
43	nsv906834	chr16:69990319-70242125	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
44	esv1821001	chr16:69999932-70237077	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
45	esv1833444	chr16:70000061-70103765	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
46	esv3492398	chr16:70000171-70223061	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
47	esv3492399	chr16:70000171-70223061	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
48	esv3510861	chr16:70007006-70234137	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
49	esv3510862	chr16:70007006-70234137	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases
50	nsv827717	chr16:70010241-70197941	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1972657	CLEC18C	cis	Whole Blood	GTEx
rs1972657	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70097400-70101200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70097600-70101200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:70097800-70101000	Active TSS	Fetal Intestine Small	intestine
4	chr16:70098000-70100600	Active TSS	Colonic Mucosa	Colon
5	chr16:70098000-70100800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:70098000-70100800	Active TSS	Fetal Intestine Large	intestine
7	chr16:70098000-70101000	Active TSS	Duodenum Mucosa	Duodenum
8	chr16:70098200-70100800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:70098200-70100800	Active TSS	Brain Anterior Caudate	brain
10	chr16:70098200-70101000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:70098200-70101000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:70098200-70101000	Active TSS	Rectal Smooth Muscle	rectum
13	chr16:70098200-70101200	Active TSS	HMEC	breast
14	chr16:70098400-70100600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:70098400-70100600	Active TSS	Brain Germinal Matrix	brain
16	chr16:70098400-70100600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr16:70098400-70101000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr16:70098400-70101000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr16:70098400-70101000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:70098400-70101000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:70098400-70101000	Active TSS	Fetal Kidney	kidney
22	chr16:70098400-70101200	Active TSS	NHEK	skin
23	chr16:70098600-70100600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:70098600-70100600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:70098600-70100600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:70098600-70100600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:70098600-70100600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr16:70098600-70100600	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr16:70098600-70100600	Active TSS	Aorta	Aorta
30	chr16:70098600-70100600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr16:70098600-70100600	Active TSS	Esophagus	oesophagus
32	chr16:70098600-70100600	Active TSS	HSMMtube	muscle
33	chr16:70098600-70100600	Active TSS	K562	blood
34	chr16:70098600-70100600	Active TSS	NHDF-Ad	bronchial
35	chr16:70098600-70100600	Active TSS	NHLF	lung
36	chr16:70098600-70100800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:70098600-70100800	Active TSS	Primary T cells from cord blood	blood
38	chr16:70098600-70100800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:70098600-70101000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr16:70098600-70101000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:70098600-70101000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr16:70098600-70101000	Active TSS	Brain Angular Gyrus	brain
43	chr16:70098600-70101000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:70098800-70100600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:70098800-70100600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:70098800-70100600	Active TSS	Brain Hippocampus Middle	brain
47	chr16:70098800-70100600	Active TSS	Brain Substantia Nigra	brain
48	chr16:70098800-70100600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr16:70098800-70100600	Active TSS	Right Atrium	heart
50	chr16:70098800-70100600	Active TSS	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links