Variant report

Variant	rs73532241
Chromosome Location	chr16:31228018-31228019
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	SIN3A	chr16:31227993-31228492	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr16:31227855-31228660	H1-hESC	embryonic stem cell:	n/a	chr16:31228554-31228561 chr16:31228547-31228564 chr16:31228550-31228561 chr16:31228422-31228432 chr16:31228553-31228562
3	BACH1	chr16:31227815-31228368	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr16:31227888-31228618	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr16:31227960-31228110	GM12865	blood:	n/a	n/a
6	POLR2A	chr16:31226988-31228222	H1-neurons	neurons:	n/a	n/a
7	E2F6	chr16:31227876-31228515	H1-hESC	embryonic stem cell:	n/a	chr16:31228422-31228432
8	MAX	chr16:31227900-31228546	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr16:31227993-31228350	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31145063..31147795-chr16:31225870..31228416,3	MCF-7	breast:
2	chr16:31190054..31194646-chr16:31224217..31229118,11	MCF-7	breast:
3	chr16:31225327..31230953-chr16:31277531..31282411,8	MCF-7	breast:
4	chr16:31189605..31193047-chr16:31225207..31229243,8	MCF-7	breast:
5	chr16:31225061..31229339-chr16:31234222..31239323,4	MCF-7	breast:
6	chr16:31225508..31229530-chr16:31277117..31281279,6	MCF-7	breast:
7	chr16:31104754..31107641-chr16:31225871..31228750,3	MCF-7	breast:
8	chr16:31127390..31129807-chr16:31225827..31228203,2	MCF-7	breast:

Variant related genes	Relation type
PYDC1	TF binding region
ENSG00000260304	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000261925	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000252876	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17839571	1.00[EUR][1000 genomes]
rs17839573	1.00[EUR][1000 genomes]
rs55643523	1.00[EUR][1000 genomes]
rs55651936	1.00[EUR][1000 genomes]
rs55995755	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56068718	1.00[EUR][1000 genomes]
rs58076927	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58865641	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60375074	1.00[EUR][1000 genomes]
rs60976516	1.00[EUR][1000 genomes]
rs61086377	1.00[EUR][1000 genomes]
rs61733962	1.00[EUR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs7186737	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72550895	1.00[EUR][1000 genomes]
rs73530254	1.00[EUR][1000 genomes]
rs73530263	1.00[EUR][1000 genomes]
rs73530266	1.00[EUR][1000 genomes]
rs73530269	1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73530283	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73530293	1.00[EUR][1000 genomes]
rs73530298	1.00[EUR][1000 genomes]
rs73532211	1.00[EUR][1000 genomes]
rs73532214	1.00[EUR][1000 genomes]
rs73532217	1.00[EUR][1000 genomes]
rs73532228	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532236	1.00[EUR][1000 genomes]
rs73532245	1.00[EUR][1000 genomes]
rs73532246	1.00[EUR][1000 genomes]
rs73532249	1.00[EUR][1000 genomes]
rs73532254	1.00[EUR][1000 genomes]
rs74015090	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015096	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9708646	1.00[EUR][1000 genomes]
rs9927298	1.00[EUR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
9	nsv905744	chr16:31216517-31234288	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv905745	chr16:31216517-31247924	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv905746	chr16:31223549-31237920	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31225600-31228600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:31226000-31228200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr16:31226000-31228600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:31226000-31228600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
5	chr16:31226000-31228600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr16:31226200-31228400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
7	chr16:31226200-31228400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:31226200-31228400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr16:31226200-31228400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
10	chr16:31226200-31228600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
11	chr16:31226400-31228400	Bivalent Enhancer	Fetal Thymus	thymus
12	chr16:31226400-31228600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
13	chr16:31226400-31228600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:31226600-31228600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr16:31226800-31228400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
16	chr16:31227000-31228200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr16:31227000-31228400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr16:31227000-31228600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr16:31227000-31228600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:31227000-31228600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:31227000-31228600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:31227000-31228600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr16:31227200-31228200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:31227200-31228400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr16:31227200-31228400	Bivalent Enhancer	Fetal Lung	lung
26	chr16:31227200-31228400	Enhancers	Lung	lung
27	chr16:31227200-31228600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr16:31227200-31228600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:31227200-31228600	Bivalent Enhancer	Placenta	Placenta
30	chr16:31227200-31228600	Enhancers	Ovary	ovary
31	chr16:31227400-31228200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:31227400-31228200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:31227400-31228400	Bivalent Enhancer	Fetal Brain Male	brain
34	chr16:31227400-31228400	Bivalent Enhancer	NHEK	skin
35	chr16:31227400-31228600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:31227400-31228600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:31227400-31228600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr16:31227400-31228600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr16:31227400-31228600	Bivalent Enhancer	Fetal Stomach	stomach
40	chr16:31227400-31228600	Enhancers	Pancreas	Pancrea
41	chr16:31227400-31228800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr16:31227600-31228200	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr16:31227600-31228400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
44	chr16:31227600-31228600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr16:31227600-31228600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
46	chr16:31227600-31228600	Bivalent Enhancer	Fetal Heart	heart
47	chr16:31227600-31228600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr16:31227600-31228600	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr16:31227600-31228800	Enhancers	Gastric	stomach
50	chr16:31227600-31228800	Bivalent Enhancer	Spleen	Spleen

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