Variant report

Variant	rs2232502
Chromosome Location	chr16:77228389-77228390
allele	A/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	POLR2A	chr16:77228173-77228928	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:77228367-77228573	GM12878	blood:	n/a	n/a
3	BCL3	chr16:77228232-77228542	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:77222637-77230176	K562	blood:	n/a	n/a
5	POLR2A	chr16:77228253-77228599	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:77223534..77226455-chr16:77227601..77231752,9	MCF-7	breast:

Variant related genes	Relation type
SYCE1L	TF binding region
ENSG00000103111	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs67695631	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869201	chr16:76714549-77233646	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1057677	chr16:76861946-77230013	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS 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 miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv523187	chr16:77227180-77229657	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77226200-77228600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
2	chr16:77226200-77229200	Weak transcription	HSMMtube	muscle
3	chr16:77226200-77233000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:77226200-77240400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:77226400-77228800	Weak transcription	Osteobl	bone
6	chr16:77226400-77229000	Weak transcription	NH-A	brain
7	chr16:77226400-77229600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:77226400-77240200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:77226600-77228600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:77226600-77228600	Genic enhancers	Pancreas	Pancrea
11	chr16:77226600-77229200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:77226600-77229200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:77226600-77229200	Strong transcription	NHEK	skin
14	chr16:77226600-77229400	Strong transcription	HSMM	muscle
15	chr16:77226600-77233800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:77226600-77233800	Strong transcription	A549	lung
17	chr16:77226600-77234200	Strong transcription	Fetal Muscle Leg	muscle
18	chr16:77226600-77235000	Weak transcription	Psoas Muscle	Psoas
19	chr16:77226600-77235600	Strong transcription	Fetal Thymus	thymus
20	chr16:77226800-77228600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:77226800-77230000	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr16:77226800-77233400	Strong transcription	NHLF	lung
23	chr16:77226800-77233800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:77226800-77233800	Strong transcription	Colonic Mucosa	Colon
25	chr16:77226800-77233800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:77226800-77234000	Strong transcription	Thymus	Thymus
27	chr16:77226800-77234000	Strong transcription	K562	blood
28	chr16:77226800-77234600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr16:77226800-77235200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:77226800-77235600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:77226800-77235600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr16:77226800-77235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:77227000-77228400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr16:77227000-77228600	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:77227000-77228600	Genic enhancers	Gastric	stomach
36	chr16:77227000-77229800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:77227000-77230000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr16:77227000-77230200	Strong transcription	Brain Hippocampus Middle	brain
39	chr16:77227000-77231200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr16:77227000-77232400	Weak transcription	Stomach Mucosa	stomach
41	chr16:77227000-77233800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:77227000-77233800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr16:77227000-77234000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:77227000-77234000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:77227000-77235600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:77227000-77235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:77227000-77235600	Strong transcription	Liver	Liver
48	chr16:77227000-77235800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr16:77227000-77236200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:77227000-77236600	Strong transcription	Primary T cells from cord blood	blood

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