Variant report

Variant	rs72690112
Chromosome Location	chr8:120844378-120844379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120843931..120845591-chr8:120884671..120887601,2	MCF-7	breast:
2	chr8:120843501..120846699-chr8:120865917..120869113,7	MCF-7	breast:
3	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136982	Chromatin interaction
ENSG00000245330	Chromatin interaction
ENSG00000155792	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10086801	0.84[ASN][1000 genomes]
rs10108101	0.81[ASN][1000 genomes]
rs10955939	0.84[ASN][1000 genomes]
rs11775062	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11785572	1.00[ASN][1000 genomes]
rs11985347	1.00[ASN][1000 genomes]
rs11991780	0.84[ASN][1000 genomes]
rs11996390	0.85[ASN][1000 genomes]
rs11998531	0.93[ASN][1000 genomes]
rs12156318	0.85[ASN][1000 genomes]
rs16893214	1.00[ASN][1000 genomes]
rs16893240	0.84[ASN][1000 genomes]
rs16893243	0.84[ASN][1000 genomes]
rs16893249	0.84[ASN][1000 genomes]
rs16893252	0.84[ASN][1000 genomes]
rs17818097	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17818440	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17818446	0.85[ASN][1000 genomes]
rs17818842	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063284	1.00[ASN][1000 genomes]
rs55776270	0.84[ASN][1000 genomes]
rs55889147	0.84[ASN][1000 genomes]
rs56180159	0.85[ASN][1000 genomes]
rs58900911	0.84[ASN][1000 genomes]
rs61438417	1.00[ASN][1000 genomes]
rs62526566	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62526598	0.85[ASN][1000 genomes]
rs62526601	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62526606	0.85[ASN][1000 genomes]
rs62526620	1.00[ASN][1000 genomes]
rs62526621	0.84[ASN][1000 genomes]
rs62526623	0.84[ASN][1000 genomes]
rs62526624	0.84[ASN][1000 genomes]
rs62526625	0.84[ASN][1000 genomes]
rs62526635	0.84[ASN][1000 genomes]
rs62526636	0.84[ASN][1000 genomes]
rs62526637	0.84[ASN][1000 genomes]
rs62526638	0.84[ASN][1000 genomes]
rs62526639	0.84[ASN][1000 genomes]
rs62526640	0.84[ASN][1000 genomes]
rs62526641	0.84[ASN][1000 genomes]
rs62526642	0.84[ASN][1000 genomes]
rs6981251	0.84[ASN][1000 genomes]
rs6982092	0.84[ASN][1000 genomes]
rs6987018	0.84[ASN][1000 genomes]
rs6987100	0.84[ASN][1000 genomes]
rs6987160	0.84[ASN][1000 genomes]
rs6987389	0.84[ASN][1000 genomes]
rs6988621	1.00[ASN][1000 genomes]
rs6989803	0.86[ASN][1000 genomes]
rs6994085	0.86[ASN][1000 genomes]
rs6995594	1.00[ASN][1000 genomes]
rs7002440	0.84[ASN][1000 genomes]
rs7007123	0.84[ASN][1000 genomes]
rs7007265	0.84[ASN][1000 genomes]
rs72690123	0.84[ASN][1000 genomes]
rs72690128	0.84[ASN][1000 genomes]
rs72690134	0.84[ASN][1000 genomes]
rs72690137	0.84[ASN][1000 genomes]
rs73705442	0.84[ASN][1000 genomes]
rs7815389	0.86[ASN][1000 genomes]
rs7823836	0.84[ASN][1000 genomes]
rs7823910	0.84[ASN][1000 genomes]
rs7823917	0.84[ASN][1000 genomes]
rs7828086	0.86[ASN][1000 genomes]
rs7831639	0.93[ASN][1000 genomes]
rs7838465	0.85[ASN][1000 genomes]
rs7843080	0.84[ASN][1000 genomes]
rs7843579	0.84[ASN][1000 genomes]
rs9650078	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[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	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120841600-120844400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:120842000-120844600	Weak transcription	Gastric	stomach
3	chr8:120842600-120844400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:120843200-120844400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:120843200-120844400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr8:120843400-120846000	Active TSS	GM12878-XiMat	blood
7	chr8:120843600-120844400	Flanking Active TSS	Dnd41	blood
8	chr8:120843600-120845800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:120843600-120845800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:120843600-120845800	Active TSS	NH-A	brain
11	chr8:120843600-120846000	Active TSS	K562	blood
12	chr8:120843800-120844400	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr8:120843800-120844400	Enhancers	Fetal Brain Male	brain
14	chr8:120843800-120845800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:120843800-120845800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:120844000-120844400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr8:120844000-120844400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:120844000-120844400	Enhancers	Primary B cells from cord blood	blood
19	chr8:120844000-120844400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:120844000-120844400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:120844000-120844400	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr8:120844000-120844400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr8:120844000-120844400	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr8:120844000-120844400	Flanking Active TSS	Fetal Lung	lung
25	chr8:120844000-120844400	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr8:120844000-120844400	Flanking Active TSS	Placenta	Placenta
27	chr8:120844000-120844400	Flanking Active TSS	Fetal Stomach	stomach
28	chr8:120844000-120844400	Flanking Active TSS	Fetal Thymus	thymus
29	chr8:120844000-120844400	Flanking Active TSS	HMEC	breast
30	chr8:120844000-120844600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:120844000-120844600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr8:120844000-120844600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr8:120844000-120844600	Flanking Active TSS	Fetal Kidney	kidney
34	chr8:120844000-120844600	Enhancers	Small Intestine	intestine
35	chr8:120844000-120844600	Active TSS	HepG2	liver
36	chr8:120844000-120844800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr8:120844000-120844800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:120844000-120844800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:120844000-120845600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr8:120844000-120845600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:120844000-120845600	Active TSS	Fetal Heart	heart
42	chr8:120844000-120845600	Active TSS	Psoas Muscle	Psoas
43	chr8:120844000-120845600	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr8:120844000-120845800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:120844000-120845800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:120844000-120845800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:120844000-120845800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:120844000-120845800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr8:120844000-120845800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:120844000-120845800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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