Variant report

Variant	rs13335851
Chromosome Location	chr16:58651328-58651329
allele	C/G
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	chr16:58650898-58653080	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:58651292-58653229	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:58651296-58652117	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:58650830-58652923	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:58650357-58653283	K562	blood:	n/a	n/a
6	POLR2A	chr16:58651299-58651989	GM12891	blood:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000239121	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13334745	1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335953	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	1.00[EUR][1000 genomes]
rs28468502	1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533067	1.00[EUR][1000 genomes]
rs28613241	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644182	0.92[AFR][1000 genomes];1.00[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	1.00[EUR][1000 genomes]
rs9924494	1.00[EUR][1000 genomes]
rs9926053	1.00[EUR][1000 genomes]
rs9930277	1.00[EUR][1000 genomes]
rs9938192	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938386	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941175	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

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	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
6	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
7	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
8	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
9	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
10	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
11	nsv572771	chr16:58647731-58660390	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv572778	chr16:58648089-58653838	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv572784	chr16:58648248-58653838	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv572787	chr16:58648315-58653838	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv572789	chr16:58648561-58653838	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv572790	chr16:58648561-58660390	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 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	chr16:58631800-58657200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:58632000-58651400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:58632000-58651400	Weak transcription	Hela-S3	cervix
5	chr16:58632000-58656800	Weak transcription	HSMMtube	muscle
6	chr16:58632000-58657000	Weak transcription	Brain Angular Gyrus	brain
7	chr16:58632200-58658000	Weak transcription	Aorta	Aorta
8	chr16:58632400-58651600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:58633200-58651600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:58633200-58657000	Weak transcription	Right Ventricle	heart
11	chr16:58633400-58652200	Weak transcription	HMEC	breast
12	chr16:58635000-58651600	Weak transcription	Esophagus	oesophagus
13	chr16:58637800-58651400	Weak transcription	Gastric	stomach
14	chr16:58637800-58651600	Weak transcription	Brain Anterior Caudate	brain
15	chr16:58637800-58651600	Weak transcription	Brain Substantia Nigra	brain
16	chr16:58637800-58652400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:58637800-58655000	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:58637800-58657200	Weak transcription	Small Intestine	intestine
19	chr16:58637800-58658000	Weak transcription	Fetal Brain Male	brain
20	chr16:58637800-58662000	Weak transcription	Stomach Mucosa	stomach
21	chr16:58638200-58661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr16:58639400-58661600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:58640000-58659400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:58640600-58656800	Weak transcription	Colonic Mucosa	Colon
25	chr16:58641400-58651400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:58643000-58651800	Weak transcription	Brain Germinal Matrix	brain
27	chr16:58643200-58651400	Weak transcription	Fetal Brain Female	brain
28	chr16:58645800-58659000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr16:58646000-58652200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:58646200-58651600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:58646600-58651400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr16:58647200-58651400	Weak transcription	Pancreas	Pancrea
33	chr16:58647200-58651600	Weak transcription	Ovary	ovary
34	chr16:58647200-58661600	Weak transcription	Psoas Muscle	Psoas
35	chr16:58647400-58651600	Weak transcription	Liver	Liver
36	chr16:58647800-58660400	Strong transcription	Fetal Intestine Small	intestine
37	chr16:58648000-58659400	Strong transcription	Thymus	Thymus
38	chr16:58648000-58659800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:58648400-58653800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:58648400-58659200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:58648800-58651800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:58648800-58659800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr16:58649000-58652200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr16:58649000-58659600	Weak transcription	Right Atrium	heart
45	chr16:58649200-58652400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:58649200-58660200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:58649400-58651400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:58649400-58651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:58649400-58657200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr16:58649600-58651600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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