Variant report

Variant	rs554606657
Chromosome Location	chr16:31540880-31540881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31539583..31542235-chr16:31544201..31546359,2	MCF-7	breast:
2	chr16:31530119..31532090-chr16:31539372..31541784,2	MCF-7	breast:
3	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
4	chr16:31537316..31539067-chr16:31539316..31542062,2	K562	blood:
5	chr16:31517850..31520614-chr16:31538452..31541283,3	K562	blood:

Variant related genes	Relation type
ENSG00000260625	Chromatin interaction
ENSG00000140688	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
3	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
4	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
5	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
6	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
7	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
9	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv1823209	chr16:31521276-31580272	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv960003	chr16:31540814-31561659	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31539400-31541200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:31539400-31541600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:31539600-31541600	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr16:31540000-31541200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
5	chr16:31540000-31541400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:31540000-31541600	Active TSS	Colon Smooth Muscle	Colon
7	chr16:31540000-31541600	Enhancers	Gastric	stomach
8	chr16:31540000-31541800	Active TSS	Aorta	Aorta
9	chr16:31540200-31541200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr16:31540200-31541200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr16:31540200-31541200	Active TSS	Right Atrium	heart
12	chr16:31540200-31541200	Bivalent/Poised TSS	HSMM	muscle
13	chr16:31540200-31541400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr16:31540200-31541400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr16:31540200-31541400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:31540200-31541400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr16:31540200-31541400	Bivalent/Poised TSS	A549	lung
18	chr16:31540200-31541600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:31540200-31541600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:31540200-31541600	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr16:31540200-31541800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr16:31540400-31541000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:31540400-31541000	Active TSS	Primary T cells from cord blood	blood
24	chr16:31540400-31541000	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr16:31540400-31541200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:31540400-31541200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr16:31540400-31541200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:31540400-31541200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:31540400-31541200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr16:31540400-31541200	Bivalent/Poised TSS	Fetal Lung	lung
31	chr16:31540400-31541200	Active TSS	Ovary	ovary
32	chr16:31540400-31541200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr16:31540400-31541200	Active TSS	Right Ventricle	heart
34	chr16:31540400-31541400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:31540400-31541400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:31540400-31541400	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr16:31540400-31541600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr16:31540400-31541600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr16:31540400-31541600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr16:31540600-31541000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
41	chr16:31540600-31541000	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr16:31540600-31541000	Bivalent/Poised TSS	Left Ventricle	heart
43	chr16:31540600-31541000	Active TSS	Lung	lung
44	chr16:31540600-31541000	Active TSS	Stomach Smooth Muscle	stomach
45	chr16:31540600-31541200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:31540600-31541200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr16:31540600-31541200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:31540600-31541200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr16:31540600-31541200	Active TSS	Pancreas	Pancrea
50	chr16:31540600-31541200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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