Variant report

Variant	rs60372872
Chromosome Location	chr7:5790540-5790541
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5790126..5791962-chr7:5819797..5822715,2	MCF-7	breast:
2	chr7:5778904..5781083-chr7:5790150..5792640,2	MCF-7	breast:
3	chr7:5790125..5792090-chr7:5812066..5813881,3	K562	blood:

Variant related genes	Relation type
ENSG00000011275	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2345938	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28519438	1.00[ASN][1000 genomes]
rs34865088	0.92[ASN][1000 genomes]
rs3801012	0.82[ASN][1000 genomes]
rs3807580	0.84[ASN][1000 genomes]
rs57309152	0.84[ASN][1000 genomes]
rs58364611	1.00[ASN][1000 genomes]
rs58503972	0.85[ASN][1000 genomes]
rs60181616	0.84[ASN][1000 genomes]
rs60442234	0.87[ASN][1000 genomes]
rs61033429	0.89[ASN][1000 genomes]
rs61210914	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61260366	0.89[ASN][1000 genomes]
rs6463513	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944627	1.00[ASN][1000 genomes]
rs6951438	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6956564	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6959871	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6969585	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73339903	0.82[ASN][1000 genomes]
rs73341604	0.82[ASN][1000 genomes]
rs7795879	0.89[ASN][1000 genomes]
rs7806110	0.89[ASN][1000 genomes]
rs7809733	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
8	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
12	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
14	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
16	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
18	nsv464293	chr7:5778796-5891221	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv464294	chr7:5778796-5891221	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv605987	chr7:5778796-5891221	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	esv2764038	chr7:5785999-5893967	Enhancers Weak transcription Active TSS Strong transcription Flanking 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	10 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	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
4	chr7:5774200-5800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:5781200-5790600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:5781200-5792400	Weak transcription	Gastric	stomach
7	chr7:5781400-5790600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:5781400-5799600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:5781400-5816800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:5781800-5790600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:5782800-5794400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:5783600-5798200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:5784000-5819600	Weak transcription	Fetal Heart	heart
14	chr7:5784200-5792800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:5784200-5792800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:5784200-5798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:5784400-5792800	Strong transcription	Primary T cells from cord blood	blood
18	chr7:5784800-5792800	Strong transcription	Dnd41	blood
19	chr7:5785000-5792800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:5785000-5795400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr7:5785200-5807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:5785400-5793000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:5785600-5792600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:5785600-5794200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:5785800-5793000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:5786000-5791200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:5786000-5792800	Strong transcription	K562	blood
28	chr7:5786000-5798000	Weak transcription	Fetal Brain Male	brain
29	chr7:5786200-5790600	Weak transcription	Fetal Intestine Small	intestine
30	chr7:5786200-5791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:5786200-5795000	Weak transcription	HUVEC	blood vessel
32	chr7:5786400-5792400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:5787200-5792200	Weak transcription	Fetal Kidney	kidney
34	chr7:5787600-5794000	Weak transcription	Stomach Mucosa	stomach
35	chr7:5787800-5794600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:5788000-5791600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:5788200-5792600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:5788600-5792800	Strong transcription	Osteobl	bone
39	chr7:5789000-5792600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:5789000-5792800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:5789000-5794200	Strong transcription	Fetal Thymus	thymus
42	chr7:5789200-5790800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:5789200-5792800	Strong transcription	HSMM	muscle
44	chr7:5789200-5793000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:5789200-5793200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:5789400-5790600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:5789400-5792800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:5789400-5792800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:5789400-5793000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr7:5789400-5793000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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