Variant report

Variant	rs72720547
Chromosome Location	chr8:126157256-126157257
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126146345..126147977-chr8:126156766..126159628,2	MCF-7	breast:
2	chr8:126155085..126158836-chr8:126194107..126197268,3	MCF-7	breast:
3	chr8:126151658..126158351-chr8:126441101..126448001,9	MCF-7	breast:
4	chr8:126154610..126158392-chr8:126442240..126446701,5	MCF-7	breast:
5	chr8:126149993..126152302-chr8:126156808..126159552,2	K562	blood:
6	chr8:126147732..126149263-chr8:126155870..126158265,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12544146	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16900402	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740518	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55843815	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55992026	0.98[EUR][1000 genomes]
rs72720529	0.92[EUR][1000 genomes]
rs72720531	0.97[EUR][1000 genomes]
rs72720532	0.98[EUR][1000 genomes]
rs72720536	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720538	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720553	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720554	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720555	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720560	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7460712	0.94[EUR][1000 genomes];0.91[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	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	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
3	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
4	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
2	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
4	chr8:126137600-126158400	Weak transcription	Placenta	Placenta
5	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
6	chr8:126138000-126163000	Weak transcription	Fetal Kidney	kidney
7	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:126138200-126158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:126138200-126160200	Weak transcription	Spleen	Spleen
12	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:126140400-126162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:126141600-126159800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:126142600-126163000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:126142800-126162000	Weak transcription	HSMM	muscle
20	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
21	chr8:126143200-126158000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:126143200-126162200	Weak transcription	GM12878-XiMat	blood
23	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
25	chr8:126143400-126162200	Weak transcription	HSMMtube	muscle
26	chr8:126143400-126163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:126143600-126160200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:126143800-126157800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:126143800-126160000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:126143800-126163800	Weak transcription	Fetal Lung	lung
31	chr8:126144200-126157800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:126144400-126162000	Weak transcription	Hela-S3	cervix
33	chr8:126144600-126163800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:126144600-126168000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:126145000-126163000	Weak transcription	Dnd41	blood
36	chr8:126146200-126158000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:126146400-126160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:126150800-126158000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:126150800-126158600	Enhancers	Fetal Intestine Small	intestine
40	chr8:126151400-126158000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:126151400-126160200	Weak transcription	Gastric	stomach
42	chr8:126151600-126161800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:126152200-126157800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:126152400-126158000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:126152600-126158800	Enhancers	Fetal Intestine Large	intestine
46	chr8:126153000-126158000	Enhancers	Stomach Mucosa	stomach
47	chr8:126154000-126175600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:126154200-126157400	Weak transcription	Pancreas	Pancrea
49	chr8:126154200-126160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:126154200-126160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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