Variant report

Variant	rs535412039
Chromosome Location	chr16:72095113-72095114
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	HEY1	chr16:72094954-72095209	HepG2	liver:	n/a	n/a
2	FOXA1	chr16:72095026-72095406	HepG2	liver:	n/a	n/a
3	HEY1	chr16:72095085-72095495	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:72095030-72095992	HepG2	liver:	n/a	n/a
5	SP1	chr16:72094935-72095391	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:72094509-72095604	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72093537..72095716-chr16:72125964..72128665,2	MCF-7	breast:

Variant related genes	Relation type
HPR	TF binding region
ENSG00000140830	Chromatin interaction
ENSG00000140829	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
2	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription 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	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
9	nsv906895	chr16:72083318-72106756	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
10	nsv906896	chr16:72083318-72114002	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
11	nsv827729	chr16:72083719-72110251	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
12	nsv9456	chr16:72084761-72118322	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
13	esv2422047	chr16:72087010-72108093	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
14	esv1811716	chr16:72087405-72114457	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
15	esv1812265	chr16:72087405-72114457	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
16	esv1814276	chr16:72088169-72112372	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
17	nsv978167	chr16:72088322-72118671	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
18	nsv817737	chr16:72088331-72108093	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
19	esv1811283	chr16:72088397-72112220	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
20	esv11219	chr16:72088500-72112297	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
21	esv3314060	chr16:72088580-72097445	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
22	esv3314061	chr16:72088580-72097445	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
23	esv2215660	chr16:72088598-72097456	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
24	esv1809939	chr16:72088633-72112220	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
25	esv2478287	chr16:72088665-72098875	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
26	esv1808086	chr16:72088669-72128767	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
27	esv1814851	chr16:72090134-72112069	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
28	nsv572951	chr16:72091054-72111346	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
29	esv1804351	chr16:72091054-72111503	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
30	esv1807865	chr16:72091054-72111503	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
31	esv1811475	chr16:72091054-72111503	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
32	esv1812516	chr16:72091543-72114002	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
33	esv1810394	chr16:72091593-72111503	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
34	esv3386036	chr16:72092851-72113249	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
35	esv1811892	chr16:72092938-72111503	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
36	esv1812358	chr16:72093280-72111503	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
37	esv1814369	chr16:72093627-72096635	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
38	esv3443812	chr16:72093651-72112649	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
39	nsv514813	chr16:72094467-72096155	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
40	esv1813429	chr16:72094654-72109354	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
41	esv3342724	chr16:72094672-72110125	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
42	esv1805333	chr16:72094757-72109354	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
43	esv1809452	chr16:72094757-72109354	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
44	esv3312523	chr16:72094901-72097399	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
45	esv3312524	chr16:72094901-72097399	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
46	esv3402252	chr16:72094928-72110143	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
3	chr16:72076200-72098200	Weak transcription	Fetal Heart	heart
4	chr16:72077000-72107400	Weak transcription	Right Ventricle	heart
5	chr16:72077400-72102400	Weak transcription	Brain Substantia Nigra	brain
6	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:72078000-72100800	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:72078000-72103200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr16:72078200-72095600	Weak transcription	Brain Anterior Caudate	brain
11	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
12	chr16:72078400-72098400	Weak transcription	Primary T cells from cord blood	blood
13	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
15	chr16:72084600-72106800	Weak transcription	Psoas Muscle	Psoas
16	chr16:72084800-72098200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:72088400-72098400	Weak transcription	Adipose Nuclei	Adipose
18	chr16:72089000-72096200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr16:72090000-72107600	Weak transcription	Primary B cells from cord blood	blood
20	chr16:72090200-72107600	Weak transcription	Gastric	stomach
21	chr16:72090200-72118400	Weak transcription	Lung	lung
22	chr16:72093200-72097200	Weak transcription	Liver	Liver
23	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:72093800-72107400	Weak transcription	Fetal Stomach	stomach
25	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:72094200-72095800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr16:72094200-72096000	Enhancers	HepG2	liver
29	chr16:72094600-72096400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:72094800-72097400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:72094800-72099800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr16:72094800-72106800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr16:72094800-72108000	Weak transcription	Fetal Muscle Leg	muscle
34	chr16:72094800-72110600	Weak transcription	Spleen	Spleen

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