Variant report

Variant	rs72720531
Chromosome Location	chr8:126110569-126110570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr8:126110495-126110714	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126110371..126112024-chr8:126113544..126116413,2	K562	blood:
2	chr8:126104927..126107896-chr8:126108427..126111358,2	K562	blood:
3	chr8:126094988..126096800-chr8:126109412..126111250,2	MCF-7	breast:
4	chr8:126109384..126111604-chr8:126122578..126124828,2	MCF-7	breast:
5	chr8:126079813..126082557-chr8:126108973..126111318,2	MCF-7	breast:
6	chr8:126107482..126112486-chr8:126114879..126119066,5	MCF-7	breast:
7	chr8:125550215..125552814-chr8:126108940..126110942,2	MCF-7	breast:
8	chr8:126102855..126105618-chr8:126108609..126111413,3	K562	blood:
9	chr8:126104131..126107947-chr8:126108682..126111714,4	MCF-7	breast:

No data

Variant related genes	Relation type
NSMCE2	TF binding region
ENSG00000164961	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12544146	0.90[EUR][1000 genomes]
rs16900402	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55740518	0.90[EUR][1000 genomes]
rs55843815	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55992026	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720529	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720532	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720536	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72720538	0.97[EUR][1000 genomes]
rs72720547	0.97[EUR][1000 genomes]
rs72720553	0.97[EUR][1000 genomes]
rs72720554	0.97[EUR][1000 genomes]
rs72720555	0.90[EUR][1000 genomes]
rs72720560	0.89[EUR][1000 genomes]
rs7460712	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126104600-126116200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:126104600-126116600	Weak transcription	Esophagus	oesophagus
3	chr8:126104600-126116600	Weak transcription	Gastric	stomach
4	chr8:126104600-126120200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:126104800-126116400	Weak transcription	Aorta	Aorta
6	chr8:126105000-126114200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:126105000-126114400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:126105000-126114600	Weak transcription	Lung	lung
9	chr8:126105000-126114800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:126105000-126116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:126105000-126116800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:126105000-126123200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:126105000-126123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
15	chr8:126105200-126114400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:126105200-126114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:126105200-126114600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:126105200-126114600	Weak transcription	Thymus	Thymus
19	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
20	chr8:126105400-126110800	Weak transcription	Psoas Muscle	Psoas
21	chr8:126105400-126111400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:126105400-126113400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:126105400-126114200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:126105400-126114200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:126105400-126114400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:126105400-126114400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:126105400-126114400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:126105400-126114600	Weak transcription	GM12878-XiMat	blood
29	chr8:126105400-126114800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:126105400-126114800	Weak transcription	Fetal Brain Female	brain
31	chr8:126105400-126114800	Weak transcription	NH-A	brain
32	chr8:126105400-126115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:126105400-126115800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:126105400-126116400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:126105400-126116400	Weak transcription	Colonic Mucosa	Colon
36	chr8:126105400-126116400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:126105400-126116600	Weak transcription	Brain Germinal Matrix	brain
38	chr8:126105400-126116600	Weak transcription	Osteobl	bone
39	chr8:126105400-126116800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:126105400-126122200	Weak transcription	NHDF-Ad	bronchial
41	chr8:126105400-126123200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart
43	chr8:126105600-126111000	Weak transcription	Right Ventricle	heart
44	chr8:126105600-126111200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:126105600-126111800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:126105600-126111800	Weak transcription	HUVEC	blood vessel
47	chr8:126105600-126113800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:126105600-126114200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:126105600-126114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:126105600-126114400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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