Variant report

Variant	rs72801722
Chromosome Location	chr16:71745709-71745710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71745288..71747376-chr16:71756503..71758762,4	MCF-7	breast:
2	chr16:71736801..71738863-chr16:71744960..71747403,2	K562	blood:
3	chr16:71741661..71743207-chr16:71744792..71746297,2	MCF-7	breast:
4	chr16:71744123..71745752-chr16:71748434..71750237,2	K562	blood:

Variant related genes	Relation type
ENSG00000040199	Chromatin interaction
ENSG00000261513	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11866559	0.85[ASN][1000 genomes]
rs3764309	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59650052	0.89[ASN][1000 genomes]
rs61733125	0.81[ASN][1000 genomes]
rs61733126	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72799868	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72799894	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72801717	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72801729	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359455	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs904763	0.86[ASN][1000 genomes]
rs9652616	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71693000-71756400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:71702000-71756200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:71705000-71756200	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:71705000-71756800	Weak transcription	Gastric	stomach
6	chr16:71707400-71750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:71710600-71756200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:71710600-71756400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:71710600-71756800	Weak transcription	Lung	lung
10	chr16:71711200-71756400	Weak transcription	K562	blood
11	chr16:71715800-71756000	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:71716800-71756600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:71721600-71748400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:71724400-71748800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:71724400-71756000	Weak transcription	Dnd41	blood
16	chr16:71724400-71756200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:71724600-71756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:71724800-71756000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:71725000-71756000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:71725000-71756600	Weak transcription	Left Ventricle	heart
21	chr16:71733400-71756600	Weak transcription	Aorta	Aorta
22	chr16:71733800-71745800	Weak transcription	Brain Angular Gyrus	brain
23	chr16:71733800-71745800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr16:71733800-71756000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:71734000-71745800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr16:71734000-71756400	Weak transcription	Liver	Liver
27	chr16:71734000-71756600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:71734000-71756600	Weak transcription	Thymus	Thymus
29	chr16:71734000-71756800	Weak transcription	Pancreas	Pancrea
30	chr16:71734200-71748200	Weak transcription	Primary T cells from cord blood	blood
31	chr16:71734200-71748400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:71734200-71756200	Weak transcription	Fetal Lung	lung
33	chr16:71734400-71747600	Weak transcription	Brain Germinal Matrix	brain
34	chr16:71735000-71755800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:71735600-71748000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr16:71736000-71756400	Weak transcription	Brain Substantia Nigra	brain
37	chr16:71736400-71745800	Weak transcription	Brain Anterior Caudate	brain
38	chr16:71736400-71753200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:71736600-71748000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr16:71736600-71756000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr16:71737000-71746800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr16:71740200-71747400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr16:71741600-71756800	Weak transcription	Small Intestine	intestine
44	chr16:71741800-71745800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:71741800-71747800	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:71741800-71756600	Weak transcription	Psoas Muscle	Psoas
47	chr16:71742000-71745800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:71742000-71746600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr16:71742000-71747200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr16:71742000-71748400	Weak transcription	Primary B cells from peripheral blood	blood

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