Variant report

Variant	rs72720536
Chromosome Location	chr8:126136265-126136266
allele	C/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	PBX3	chr8:126135972-126136462	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr8:126135835-126136538	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr8:126135884-126136502	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr8:126135925-126136414	SK-N-SH	brain:	n/a	chr8:126136079-126136089
5	EP300	chr8:126135907-126136487	SK-N-SH	brain:	n/a	n/a
6	IRF1	chr8:126136191-126136331	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:

Variant related genes	Relation type
NSMCE2	TF binding region
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12544146	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900402	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55740518	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55843815	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55992026	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72720529	0.92[EUR][1000 genomes]
rs72720531	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72720532	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72720538	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72720547	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720553	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720554	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720555	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72720560	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7460712	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
6	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
2	chr8:126117200-126137800	Weak transcription	Esophagus	oesophagus
3	chr8:126117400-126137600	Weak transcription	Spleen	Spleen
4	chr8:126117400-126137800	Weak transcription	Aorta	Aorta
5	chr8:126117400-126137800	Weak transcription	Pancreas	Pancrea
6	chr8:126117400-126138400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:126117400-126140400	Weak transcription	Right Ventricle	heart
8	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
9	chr8:126117800-126137200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:126118000-126137400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
13	chr8:126118400-126137400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:126120200-126136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:126120400-126136800	Weak transcription	Placenta	Placenta
17	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:126120800-126136800	Weak transcription	Fetal Stomach	stomach
19	chr8:126120800-126137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:126120800-126137400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:126121000-126142800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:126121800-126137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:126122000-126136800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:126122200-126137400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:126123600-126136800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:126123600-126137600	Weak transcription	K562	blood
27	chr8:126124400-126137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:126127400-126136800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:126127400-126136800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:126127400-126136800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:126127600-126136600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:126127600-126137400	Weak transcription	HepG2	liver
33	chr8:126127800-126136800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:126128400-126138000	Weak transcription	Lung	lung
35	chr8:126131400-126137600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:126131600-126137400	Weak transcription	Liver	Liver
37	chr8:126131600-126142800	Weak transcription	Brain Anterior Caudate	brain
38	chr8:126131800-126136800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:126131800-126137000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:126131800-126137600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:126132000-126137200	Weak transcription	NHEK	skin
42	chr8:126132000-126137400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:126132000-126137600	Weak transcription	HUVEC	blood vessel
44	chr8:126132600-126137600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:126132800-126137200	Weak transcription	A549	lung
46	chr8:126133200-126136400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:126133200-126136600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:126133200-126136600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:126133200-126136800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:126133200-126136800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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