Variant report

Variant	rs372466859
Chromosome Location	chr16:72107448-72107449
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	KAP1	chr16:72106670-72107485	K562	blood:	n/a	chr16:72107405-72107413
2	MYBL2	chr16:72106592-72107701	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:72107372-72107928	HepG2	liver:	n/a	n/a
4	TEAD4	chr16:72106201-72107819	HepG2	liver:	n/a	n/a
5	GATA1	chr16:72106595-72107516	K562	blood:	n/a	n/a
6	POLR2A	chr16:72106855-72107626	HepG2	liver:	n/a	n/a
7	HEY1	chr16:72106470-72107939	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:72106283-72107978	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72098840..72102253-chr16:72104146..72107637,4	K562	blood:
2	chr16:72099750..72107853-chr16:72126502..72131093,10	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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	esv1810076	chr16:72095855-72111346	Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
39	esv1811740	chr16:72095855-72111346	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
40	esv1809401	chr16:72096633-72108093	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
41	esv1810395	chr16:72096633-72108093	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
42	esv3693225	chr16:72096633-72108093	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
43	esv1814859	chr16:72096633-72116467	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
44	esv3340611	chr16:72104701-72107599	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
45	esv3312531	chr16:72107276-72109824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
46	esv3312532	chr16:72107276-72109824	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
2	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
3	chr16:72090000-72107600	Weak transcription	Primary B cells from cord blood	blood
4	chr16:72090200-72107600	Weak transcription	Gastric	stomach
5	chr16:72090200-72118400	Weak transcription	Lung	lung
6	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:72094800-72108000	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:72094800-72110600	Weak transcription	Spleen	Spleen
11	chr16:72095800-72111800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr16:72096800-72118200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:72097200-72118000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:72099200-72111800	Weak transcription	Primary T cells from cord blood	blood
15	chr16:72102800-72118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:72103400-72107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:72103600-72110600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr16:72104200-72117800	Weak transcription	Thymus	Thymus
19	chr16:72104800-72117800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr16:72105200-72108600	Enhancers	Brain Angular Gyrus	brain
21	chr16:72105200-72108600	Enhancers	Ovary	ovary
22	chr16:72105600-72107600	Enhancers	Fetal Intestine Large	intestine
23	chr16:72105800-72107600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:72106200-72107600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:72106200-72109000	Enhancers	Stomach Mucosa	stomach
26	chr16:72106400-72107600	Weak transcription	Left Ventricle	heart
27	chr16:72106400-72108000	Enhancers	Fetal Heart	heart
28	chr16:72106400-72108400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr16:72106400-72109000	Enhancers	Duodenum Mucosa	Duodenum
30	chr16:72106400-72118200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:72106600-72107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:72106600-72108400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr16:72106600-72126400	Weak transcription	Small Intestine	intestine
34	chr16:72106800-72107600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:72106800-72107600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr16:72106800-72108000	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr16:72106800-72108000	Enhancers	Psoas Muscle	Psoas
38	chr16:72106800-72108600	Enhancers	Pancreas	Pancrea
39	chr16:72106800-72108600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr16:72106800-72112000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:72106800-72117800	Weak transcription	Fetal Intestine Small	intestine
42	chr16:72106800-72118000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:72107000-72107800	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr16:72107000-72118200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:72107000-72118200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr16:72107200-72107600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr16:72107200-72107800	Enhancers	Brain Anterior Caudate	brain
48	chr16:72107200-72108200	Enhancers	Adipose Nuclei	Adipose
49	chr16:72107200-72108800	Enhancers	K562	blood
50	chr16:72107200-72110800	Strong transcription	Liver	Liver

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