Variant report

Variant	rs2453141
Chromosome Location	chr16:75569505-75569506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75569311-75569507	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:75569360-75569529	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75569459-75569509	IMR90	lung:	fetal
2	chr16:75569459-75569509	ECC-1	luminal epithelium:	n/a
3	chr16:75569459-75569509	NH-A	brain:	n/a
4	chr16:75569459-75569509	BE2_C	brain:	n/a
5	chr16:75569459-75569509	HRE	kidney:	n/a
6	chr16:75569459-75569509	HIPEpiC	eye:	n/a
7	chr16:75569459-75569509	HEK293	kidney:	embryo
8	chr16:75569459-75569509	GM12892	blood:	n/a
9	chr16:75569459-75569509	SK-N-MC	brain:	n/a
10	chr16:75569459-75569509	HMEC	breast:	n/a
11	chr16:75569459-75569509	HPAEpiC	pulmonary alveolar:	n/a
12	chr16:75569459-75569509	GM12891	blood:	n/a
13	chr16:75569459-75569509	HCT-116	colon:	n/a
14	chr16:75569459-75569509	HRPEpiC	eye:	n/a
15	chr16:75569459-75569509	U87	brain:	n/a
16	chr16:75569459-75569509	CMK	blood:	n/a
17	chr16:75569459-75569509	AG04450	lung:	fetal
18	chr16:75569459-75569509	T-47D	breast:	n/a
19	chr16:75569459-75569509	ProgFib	skin:	n/a
20	chr16:75569459-75569509	HCPEpiC	choroid plexus:	n/a
21	chr16:75569459-75569509	RPTEC	kidney:	n/a
22	chr16:75569459-75569509	PFSK-1	brain:	n/a
23	chr16:75569459-75569509	MCF10A-Er-Src	breast:	n/a
24	chr16:75569459-75569509	NHBE	bronchial:	n/a
25	chr16:75569459-75569509	Hepatocyte	liver:	n/a
26	chr16:75569459-75569509	Caco-2	colon:	n/a
27	chr16:75569459-75569509	HUVEC	blood vessel:	n/a
28	chr16:75569459-75569509	LNCaP	prostate:	n/a
29	chr16:75569459-75569509	GM06990	blood:	n/a
30	chr16:75569459-75569509	AG09309	skin:	n/a
31	chr16:75569459-75569509	HCF	heart:	n/a
32	chr16:75569459-75569509	HEEpiC	esophagus:	n/a
33	chr16:75569459-75569509	NT2-D1	testis:	n/a
34	chr16:75569459-75569509	Jurkat	blood:	n/a
35	chr16:75569459-75569509	AoSMC	blood vessel:	n/a
36	chr16:75569459-75569509	SAEC	small airway:	n/a
37	chr16:75569459-75569509	NB4	blood:	n/a
38	chr16:75569459-75569509	GM12878	blood:	n/a
39	chr16:75569459-75569509	NHDF-neo	bronchial:	n/a
40	chr16:75569459-75569509	PANC-1	pancreas:	n/a
41	chr16:75569459-75569509	SK-N-SH	brain:	n/a
42	chr16:75569459-75569509	H1-hESC	embryonic stem cell:	embryo
43	chr16:75569459-75569509	AG10803	skin:	n/a
44	chr16:75569459-75569509	HepG2	liver:	n/a
45	chr16:75569459-75569509	HAEpiC	amniotic membrane:	n/a
46	chr16:75569459-75569509	AG04449	skin:	fetal
47	chr16:75569459-75569509	SKMC	muscle:	n/a
48	chr16:75569459-75569509	BJ	skin:	n/a
49	chr16:75569459-75569509	ovcar-3	ovarian:	n/a
50	chr16:75569459-75569509	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75568229..75570112-chr16:75587872..75589519,2	K562	blood:

No data

Variant related genes	Relation type
CHST5	TF binding region
CHST5	CpG island
ENSG00000205084	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10468346	1.00[JPT][hapmap]
rs1133766	1.00[JPT][hapmap]
rs11646086	1.00[JPT][hapmap]
rs11866252	1.00[JPT][hapmap]
rs16940813	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16941008	1.00[JPT][hapmap]
rs16941409	1.00[CHB][hapmap]
rs16942022	1.00[JPT][hapmap]
rs16942870	1.00[JPT][hapmap]
rs16975835	0.91[AFR][1000 genomes]
rs16975847	1.00[CHB][hapmap]
rs2233805	1.00[JPT][hapmap]
rs2242408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550892	1.00[CHB][hapmap]
rs2550893	1.00[CHB][hapmap]
rs2550902	1.00[CHB][hapmap]
rs2641803	1.00[CHB][hapmap]
rs2650402	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2650404	0.89[EUR][1000 genomes]
rs2650411	1.00[CHB][hapmap]
rs2650413	1.00[CHB][hapmap]
rs2738795	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2738798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2738799	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6834	1.00[JPT][hapmap]
rs7186790	1.00[JPT][hapmap]
rs7187847	0.85[EUR][1000 genomes]
rs7187954	0.88[ASN][1000 genomes]
rs7188455	0.88[ASN][1000 genomes]
rs7195089	1.00[JPT][hapmap]
rs73615082	0.82[EUR][1000 genomes]
rs8051771	1.00[JPT][hapmap]
rs8053257	0.85[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
11	nsv572981	chr16:75521030-75581160	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1059777	chr16:75522954-75572713	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv516675	chr16:75528511-75572012	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv906914	chr16:75528511-75573884	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv906915	chr16:75528511-75574729	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv906916	chr16:75528511-75579233	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv906917	chr16:75528511-75581160	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
18	esv3509911	chr16:75531267-75573060	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
19	esv3509912	chr16:75531267-75573060	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
20	esv2647265	chr16:75532031-75573468	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
21	nsv906918	chr16:75532044-75573884	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
22	nsv906919	chr16:75532044-75579233	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
23	esv3430822	chr16:75532230-75572596	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
24	esv3417877	chr16:75532542-75572654	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
25	nsv1062535	chr16:75533659-75575997	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
26	nsv1065709	chr16:75533659-75583008	Enhancers Weak transcription Active TSS Strong transcription Flanking 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	21 gene(s)	inside rSNPs	diseases
27	esv2763141	chr16:75533671-75575998	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
28	nsv1060637	chr16:75534278-75575997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
29	nsv1055697	chr16:75535360-75575997	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
30	nsv9461	chr16:75536123-75576182	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
31	nsv1057506	chr16:75536272-75575997	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
32	nsv827748	chr16:75538442-75580713	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
33	nsv870450	chr16:75538457-75591359	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	diseases
34	esv3415643	chr16:75538811-75579509	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
35	nsv827749	chr16:75539113-75579358	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
36	nsv827750	chr16:75539336-75579358	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
37	nsv1056522	chr16:75539396-75575997	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
38	esv2762311	chr16:75539408-75575998	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
39	esv2830028	chr16:75539436-75571923	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
40	nsv906920	chr16:75539436-75573884	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
41	nsv572982	chr16:75539436-75574521	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
42	nsv572983	chr16:75539436-75575410	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
43	esv3693226	chr16:75539436-75575997	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
44	nsv572984	chr16:75539436-75579233	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
45	nsv906921	chr16:75539436-75579233	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
46	nsv906922	chr16:75539436-75580117	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
47	nsv572985	chr16:75539436-75581160	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
48	nsv906923	chr16:75539436-75581160	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
49	nsv906924	chr16:75539436-75583499	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
50	nsv457522	chr16:75539885-75574424	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2453141	KARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75551200-75589200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:75551400-75572200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr16:75551400-75584000	Weak transcription	Right Atrium	heart
4	chr16:75551600-75575800	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:75551800-75572400	Weak transcription	Right Ventricle	heart
6	chr16:75551800-75578000	Weak transcription	Fetal Brain Female	brain
7	chr16:75557800-75572400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:75558600-75572000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:75561400-75578000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:75561800-75579400	Weak transcription	Gastric	stomach
11	chr16:75563200-75575200	Weak transcription	Brain Angular Gyrus	brain
12	chr16:75564000-75573800	Weak transcription	Ovary	ovary
13	chr16:75564000-75578000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:75564200-75572400	Weak transcription	Brain Germinal Matrix	brain
15	chr16:75564200-75572600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:75564200-75589200	Weak transcription	Lung	lung
17	chr16:75564800-75575200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:75567000-75572400	Weak transcription	Brain Anterior Caudate	brain
19	chr16:75567200-75570400	Active TSS	Duodenum Mucosa	Duodenum
20	chr16:75567400-75570200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr16:75567600-75570200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr16:75568400-75570000	Active TSS	Rectal Smooth Muscle	rectum
23	chr16:75568600-75569600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:75568800-75569600	Active TSS	Fetal Intestine Large	intestine
25	chr16:75568800-75570000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr16:75568800-75570600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr16:75569000-75570000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr16:75569000-75570000	Active TSS	Small Intestine	intestine
29	chr16:75569000-75583800	Weak transcription	GM12878-XiMat	blood
30	chr16:75569200-75569600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:75569200-75570000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr16:75569200-75570400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:75569200-75588600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:75569400-75569600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:75569400-75569800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:75569400-75570000	Flanking Active TSS	Colonic Mucosa	Colon
37	chr16:75569400-75570000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr16:75569400-75570400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:75569400-75584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:75569400-75588400	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links