Variant report

Variant	rs373771092
Chromosome Location	chr16:74335436-74335437
allele	A/C
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	chr16:74333903-74337541	HepG2	liver:	n/a	n/a
2	STAT3	chr16:74335429-74335749	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr16:74335272-74337528	K562	blood:	n/a	n/a
4	POLR2A	chr16:74335103-74335599	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:74334847-74341886	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr16:74330077-74342617	K562	blood:	n/a	n/a
7	POLR2A	chr16:74332938-74336688	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr16:74335175-74335891	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:74330014-74342565	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74333029..74335675-chr16:74353488..74356515,3	K562	blood:

Variant related genes	Relation type
PSMD7	TF binding region
ENSG00000261404	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906900	chr16:73650853-74349043	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv906901	chr16:73752982-74455293	Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3505286	chr16:73985029-74382420	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3505287	chr16:73985029-74382420	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv930993	chr16:74147464-74356710	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv1058208	chr16:74160074-74359324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv1056525	chr16:74186756-74356711	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv542955	chr16:74186756-74356711	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1055180	chr16:74189820-74359324	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv917046	chr16:74202828-74406136	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv833276	chr16:74216065-74438868	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	esv2758431	chr16:74334780-74587185	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	esv2758656	chr16:74334780-74587185	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	nsv833277	chr16:74334787-74498133	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74331800-74366400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:74332000-74342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:74332200-74340600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:74332400-74335800	Weak transcription	Gastric	stomach
5	chr16:74332400-74337000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:74332400-74340400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr16:74332400-74340600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr16:74332400-74340800	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr16:74332400-74340800	Strong transcription	Osteobl	bone
10	chr16:74332400-74341200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:74332400-74341400	Strong transcription	NH-A	brain
12	chr16:74332400-74341600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:74332400-74341800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:74332400-74342000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:74332400-74342400	Strong transcription	Fetal Thymus	thymus
16	chr16:74332400-74342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:74332600-74335800	Weak transcription	Esophagus	oesophagus
18	chr16:74332600-74336600	Genic enhancers	HepG2	liver
19	chr16:74332600-74340600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:74332600-74341000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:74332600-74341400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:74332600-74341600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:74332600-74341600	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr16:74332600-74341600	Strong transcription	K562	blood
25	chr16:74332600-74342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:74332600-74342000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr16:74332600-74342000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr16:74332600-74342000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:74332600-74342400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr16:74332600-74342600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:74332600-74342600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr16:74332600-74342800	Strong transcription	Brain Substantia Nigra	brain
33	chr16:74332800-74336000	Weak transcription	Right Atrium	heart
34	chr16:74332800-74338000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr16:74332800-74340000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:74332800-74340000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:74332800-74340400	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr16:74332800-74340600	Strong transcription	Brain Cingulate Gyrus	brain
39	chr16:74332800-74341600	Strong transcription	NHEK	skin
40	chr16:74332800-74342400	Strong transcription	Fetal Intestine Large	intestine
41	chr16:74332800-74342400	Strong transcription	Fetal Stomach	stomach
42	chr16:74332800-74342400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr16:74332800-74342400	Strong transcription	Thymus	Thymus
44	chr16:74332800-74342600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:74332800-74342600	Strong transcription	Fetal Brain Female	brain
46	chr16:74332800-74342600	Strong transcription	Fetal Muscle Leg	muscle
47	chr16:74332800-74401200	Weak transcription	Stomach Mucosa	stomach
48	chr16:74333000-74341000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:74333000-74341600	Strong transcription	NHLF	lung
50	chr16:74333000-74342400	Strong transcription	Liver	Liver

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