Variant report

Variant	rs13335953
Chromosome Location	chr16:58649124-58649125
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	POLR2A	chr16:58649111-58649798	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:58649029-58649471	HepG2	liver:	n/a	n/a
3	CTCF	chr16:58648980-58649130	HAc	cerebellar:	n/a	n/a
4	POLR2A	chr16:58648051-58649940	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:58648941-58649938	GM12891	blood:	n/a	n/a
6	POLR2A	chr16:58649002-58650030	GM12891	blood:	n/a	n/a
7	POLR2A	chr16:58648891-58649698	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:58648963-58649261	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:58649093-58649510	GM12891	blood:	n/a	n/a
10	CTCF	chr16:58648980-58649130	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:58645351..58648222-chr16:58649027..58650896,2	K562	blood:
2	chr16:58649098..58651404-chr16:58691447..58693477,2	K562	blood:

Variant related genes	Relation type
ENSG00000239121	TF binding region

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13329892	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333754	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13334745	1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337650	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28468502	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533067	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613241	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644182	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28744389	1.00[EUR][1000 genomes]
rs34698978	1.00[EUR][1000 genomes]
rs57335704	1.00[EUR][1000 genomes]
rs7186446	1.00[EUR][1000 genomes]
rs7193580	1.00[EUR][1000 genomes]
rs73550817	1.00[EUR][1000 genomes]
rs73550821	1.00[EUR][1000 genomes]
rs73558468	1.00[EUR][1000 genomes]
rs8048686	1.00[EUR][1000 genomes]
rs9746055	1.00[EUR][1000 genomes]
rs9923409	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9924494	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926053	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9930277	1.00[EUR][1000 genomes]
rs9938192	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938386	1.00[EUR][1000 genomes]
rs9939324	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941013	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941175	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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 lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv521338	chr16:58580519-58653838	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1794872	chr16:58619643-58678078	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1791988	chr16:58624094-58649650	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3312521	chr16:58645351-58650549	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3500191	chr16:58646051-58651549	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	esv2614548	chr16:58646354-58650823	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3500189	chr16:58646401-58651499	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1824217	chr16:58646641-58653702	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv9448	chr16:58646669-58650732	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3313366	chr16:58646737-58650673	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv512440	chr16:58646898-58650305	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3313368	chr16:58647002-58650377	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv819144	chr16:58647012-58650058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3313370	chr16:58647015-58650346	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3500190	chr16:58647021-58650366	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3313369	chr16:58647081-58650351	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv992485	chr16:58647099-58649796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv821034	chr16:58647099-58649796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv827688	chr16:58647099-58649796	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3313367	chr16:58647151-58651749	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv3500192	chr16:58647188-58650414	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv103378	chr16:58647191-58650264	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv3313371	chr16:58647191-58650290	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv11692	chr16:58647258-58649679	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv514806	chr16:58647299-58649655	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv32972	chr16:58647328-58650490	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv827689	chr16:58647329-58649796	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv991509	chr16:58647391-58649679	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv1796943	chr16:58647399-58649650	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv1799537	chr16:58647399-58649650	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1802242	chr16:58647399-58649650	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv1803184	chr16:58647399-58649650	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv1833826	chr16:58647399-58649650	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv1834392	chr16:58647399-58649650	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv1834395	chr16:58647399-58649650	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv1834475	chr16:58647399-58649650	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	esv1834759	chr16:58647399-58649650	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv1840206	chr16:58647399-58649650	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv1840741	chr16:58647399-58649650	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	esv1841748	chr16:58647399-58649650	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	esv1795751	chr16:58647545-58649650	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv572765	chr16:58647731-58649124	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv572766	chr16:58647731-58649240	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	nsv572767	chr16:58647731-58649431	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	nsv572768	chr16:58647731-58649564	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	nsv572769	chr16:58647731-58649650	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	nsv572770	chr16:58647731-58653838	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58630600-58652400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:58631800-58649400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:58631800-58650400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:58631800-58651000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:58631800-58657200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:58632000-58651400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:58632000-58651400	Weak transcription	Hela-S3	cervix
8	chr16:58632000-58656800	Weak transcription	HSMMtube	muscle
9	chr16:58632000-58657000	Weak transcription	Brain Angular Gyrus	brain
10	chr16:58632200-58658000	Weak transcription	Aorta	Aorta
11	chr16:58632400-58651600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:58632600-58651000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:58633200-58651600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr16:58633200-58657000	Weak transcription	Right Ventricle	heart
15	chr16:58633400-58652200	Weak transcription	HMEC	breast
16	chr16:58633800-58651200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:58635000-58651000	Weak transcription	Brain Hippocampus Middle	brain
18	chr16:58635000-58651600	Weak transcription	Esophagus	oesophagus
19	chr16:58635200-58650400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr16:58637800-58651000	Weak transcription	Spleen	Spleen
21	chr16:58637800-58651400	Weak transcription	Gastric	stomach
22	chr16:58637800-58651600	Weak transcription	Brain Anterior Caudate	brain
23	chr16:58637800-58651600	Weak transcription	Brain Substantia Nigra	brain
24	chr16:58637800-58652400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:58637800-58655000	Weak transcription	Colon Smooth Muscle	Colon
26	chr16:58637800-58657200	Weak transcription	Small Intestine	intestine
27	chr16:58637800-58658000	Weak transcription	Fetal Brain Male	brain
28	chr16:58637800-58662000	Weak transcription	Stomach Mucosa	stomach
29	chr16:58638000-58650800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:58638200-58650800	Weak transcription	HUVEC	blood vessel
31	chr16:58638200-58661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr16:58638400-58650800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:58639000-58651200	Weak transcription	A549	lung
34	chr16:58639400-58661600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:58640000-58650800	Weak transcription	Lung	lung
36	chr16:58640000-58659400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr16:58640600-58656800	Weak transcription	Colonic Mucosa	Colon
38	chr16:58641200-58650200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr16:58641200-58650800	Weak transcription	HSMM	muscle
40	chr16:58641400-58650800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:58641400-58651400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:58641600-58649800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:58641600-58651000	Weak transcription	Adipose Nuclei	Adipose
44	chr16:58642200-58650600	Weak transcription	Placenta	Placenta
45	chr16:58642200-58650800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr16:58643000-58650800	Weak transcription	Fetal Kidney	kidney
47	chr16:58643000-58650800	Weak transcription	K562	blood
48	chr16:58643000-58651800	Weak transcription	Brain Germinal Matrix	brain
49	chr16:58643200-58651400	Weak transcription	Fetal Brain Female	brain
50	chr16:58644200-58651000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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