Variant report

Variant	rs7202484
Chromosome Location	chr16:80575246-80575247
allele	C/G
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	HDAC2	chr16:80574290-80575288	MCF-7	breast:	n/a	chr16:80574838-80574847
2	SIN3A	chr16:80574392-80575304	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr16:80574258-80575301	MCF-7	breast:	n/a	n/a
4	REST	chr16:80574308-80575425	H1-neurons	neurons:	n/a	chr16:80574809-80574822 chr16:80575088-80575101
5	CHD1	chr16:80574104-80575329	IMR90	lung:	n/a	n/a
6	CTCF	chr16:80575140-80575290	HRPEpiC	eye:	n/a	n/a
7	ELF1	chr16:80574006-80575456	MCF-7	breast:	n/a	chr16:80574214-80574225
8	MXI1	chr16:80574322-80575323	IMR90	lung:	n/a	chr16:80574579-80574594
9	FOXM1	chr16:80574396-80575265	GM12878	blood:	n/a	n/a
10	MAX	chr16:80574185-80575291	MCF-7	breast:	n/a	n/a
11	RAD21	chr16:80574318-80575310	MCF-7	breast:	n/a	chr16:80574586-80574599 chr16:80574592-80574601
12	SIN3AK20	chr16:80574228-80575401	MCF-7	breast:	n/a	n/a
13	MXI1	chr16:80574087-80575463	SK-N-SH	brain:	n/a	chr16:80574579-80574594
14	CTCF	chr16:80575220-80575370	AG09319	gingival:	n/a	n/a
15	MAZ	chr16:80574314-80575528	IMR90	lung:	n/a	chr16:80575305-80575315
16	SIN3AK20	chr16:80574138-80575434	MCF-7	breast:	n/a	n/a
17	FOXA2	chr16:80574563-80575285	A549	lung:	n/a	n/a
18	GABPA	chr16:80574176-80575290	MCF-7	breast:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574844-80574858
19	RCOR1	chr16:80574342-80575525	IMR90	lung:	n/a	n/a
20	GABPA	chr16:80574021-80575444	MCF-7	breast:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574844-80574858
21	MAX	chr16:80574171-80575273	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80573239..80577400-chr16:80578381..80583465,6	MCF-7	breast:
2	chr16:80573192..80575392-chr16:80605742..80608359,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259867	TF binding region
DYNLRB2	TF binding region
ENSG00000168589	Chromatin interaction
ENSG00000260737	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7196394	0.85[YRI][hapmap]
rs7197982	0.86[YRI][hapmap]
rs9922406	1.00[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80573800-80575400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr16:80574000-80575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:80574000-80575400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80574000-80575400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:80574000-80575400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr16:80574000-80575400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr16:80574000-80575400	Active TSS	Right Atrium	heart
8	chr16:80574000-80575400	Active TSS	Stomach Smooth Muscle	stomach
9	chr16:80574000-80575600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:80574000-80575600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr16:80574000-80575600	Active TSS	HSMMtube	muscle
12	chr16:80574200-80575400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr16:80574200-80575400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:80574200-80575400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr16:80574200-80575400	Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr16:80574200-80575400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr16:80574200-80575400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:80574200-80575400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:80574200-80575400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:80574200-80575400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:80574200-80575400	Active TSS	Colon Smooth Muscle	Colon
22	chr16:80574200-80575400	Active TSS	Fetal Brain Female	brain
23	chr16:80574200-80575400	Active TSS	Ovary	ovary
24	chr16:80574200-80575400	Active TSS	HSMM	muscle
25	chr16:80574200-80575400	Flanking Active TSS	HUVEC	blood vessel
26	chr16:80574200-80575400	Active TSS	NH-A	brain
27	chr16:80574200-80575400	Active TSS	NHDF-Ad	bronchial
28	chr16:80574200-80575400	Active TSS	NHLF	lung
29	chr16:80574200-80575600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:80574200-80575600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr16:80574200-80575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr16:80574200-80575800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:80574200-80575800	Active TSS	Fetal Brain Male	brain
34	chr16:80574400-80575400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:80574400-80575400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:80574400-80575400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:80574400-80575400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr16:80574400-80575400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:80574400-80575400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:80574400-80575400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr16:80574400-80575400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:80574400-80575400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr16:80574400-80575400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:80574400-80575400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:80574400-80575400	Active TSS	Brain Angular Gyrus	brain
46	chr16:80574400-80575400	Active TSS	Brain Substantia Nigra	brain
47	chr16:80574400-80575400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr16:80574400-80575400	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr16:80574400-80575400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr16:80574400-80575600	Active TSS	Pancreatic Islets	Pancreatic Islet

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