Variant report

Variant	rs73532217
Chromosome Location	chr16:31213675-31213676
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:8938896..8939623-chr16:31213600..31214200,2	NB4	blood:
2	chr16:31210451..31214037-chr16:31224426..31227776,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177238	Chromatin interaction
ENSG00000074800	Chromatin interaction
ENSG00000169900	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	1.00[EUR][1000 genomes]
rs17839571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839573	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	1.00[EUR][1000 genomes]
rs55995755	1.00[EUR][1000 genomes]
rs56068718	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	1.00[EUR][1000 genomes]
rs58865641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	1.00[EUR][1000 genomes]
rs60375074	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61086377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61196325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733962	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs7186737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72550895	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530256	1.00[AMR][1000 genomes]
rs73530263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530266	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530283	1.00[EUR][1000 genomes]
rs73530293	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532228	1.00[EUR][1000 genomes]
rs73532236	1.00[EUR][1000 genomes]
rs73532241	1.00[EUR][1000 genomes]
rs73532245	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532246	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532249	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532254	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015090	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015096	1.00[EUR][1000 genomes]
rs9708646	1.00[EUR][1000 genomes]
rs9927298	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31205800-31214800	Weak transcription	Hela-S3	cervix
2	chr16:31212400-31214800	Active TSS	Rectal Smooth Muscle	rectum
3	chr16:31212400-31215000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr16:31212800-31214200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:31212800-31214400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr16:31212800-31214400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr16:31212800-31214400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:31212800-31214400	Flanking Active TSS	Liver	Liver
9	chr16:31212800-31214600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:31212800-31214600	Active TSS	Brain Substantia Nigra	brain
11	chr16:31212800-31214600	Flanking Active TSS	Placenta	Placenta
12	chr16:31212800-31214600	Active TSS	NHLF	lung
13	chr16:31213000-31213800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr16:31213000-31213800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:31213000-31214200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr16:31213000-31214200	Flanking Active TSS	HSMM	muscle
17	chr16:31213000-31214400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:31213000-31214400	Active TSS	Brain Cingulate Gyrus	brain
19	chr16:31213000-31214600	Active TSS	Brain Hippocampus Middle	brain
20	chr16:31213000-31214800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:31213000-31215000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr16:31213200-31213800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:31213200-31213800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr16:31213200-31214000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr16:31213200-31214000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:31213200-31214200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr16:31213200-31214200	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr16:31213200-31214200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr16:31213200-31214200	Active TSS	Fetal Intestine Large	intestine
30	chr16:31213200-31214200	Active TSS	Fetal Intestine Small	intestine
31	chr16:31213200-31214200	Active TSS	Fetal Lung	lung
32	chr16:31213200-31214200	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr16:31213200-31214400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:31213200-31214400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr16:31213200-31214400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:31213200-31214400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:31213200-31214400	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr16:31213200-31214400	Active TSS	Brain Anterior Caudate	brain
39	chr16:31213200-31214400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr16:31213200-31214400	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr16:31213200-31214400	Active TSS	Spleen	Spleen
42	chr16:31213200-31214600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:31213200-31214600	Active TSS	Colon Smooth Muscle	Colon
44	chr16:31213200-31214600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr16:31213200-31214600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr16:31213200-31214600	Active TSS	Small Intestine	intestine
47	chr16:31213200-31214600	Flanking Active TSS	Dnd41	blood
48	chr16:31213200-31214800	Active TSS	NHDF-Ad	bronchial
49	chr16:31213200-31215000	Active TSS	Fetal Kidney	kidney
50	chr16:31213400-31213800	Active TSS	H1 Cell Line	embryonic stem cell

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