Variant report

Variant	rs59228498
Chromosome Location	chr7:140574535-140574536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140572911..140575551-chr7:140622620..140624458,2	MCF-7	breast:
2	chr7:140571783..140574857-chr7:140622852..140625165,3	K562	blood:
3	chr7:140567539..140569746-chr7:140571900..140574839,2	MCF-7	breast:
4	chr7:140555946..140559478-chr7:140574386..140576522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157764	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2159474	1.00[EUR][1000 genomes]
rs55676199	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57519830	1.00[EUR][1000 genomes]
rs57764941	1.00[EUR][1000 genomes]
rs58444706	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58554741	1.00[EUR][1000 genomes]
rs58801847	1.00[EUR][1000 genomes]
rs58861259	0.89[AFR][1000 genomes]
rs59898525	1.00[EUR][1000 genomes]
rs60606756	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61142678	1.00[EUR][1000 genomes]
rs61398083	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6464107	1.00[EUR][1000 genomes]
rs66565115	1.00[EUR][1000 genomes]
rs6970891	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6974389	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6977964	1.00[EUR][1000 genomes]
rs73491841	1.00[EUR][1000 genomes]
rs73494523	1.00[EUR][1000 genomes]
rs73502739	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73502751	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73502794	1.00[EUR][1000 genomes]
rs73736258	1.00[EUR][1000 genomes]
rs7786128	0.81[AMR][1000 genomes]
rs7806060	1.00[EUR][1000 genomes]
rs7810726	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv518139	chr7:140512661-140622355	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1024264	chr7:140539039-140576522	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1027576	chr7:140539039-140576935	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1018200	chr7:140547011-140576522	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv1022502	chr7:140547011-140576935	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1017485	chr7:140560822-140576522	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv1026995	chr7:140560822-140576935	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv1029363	chr7:140567136-140594073	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	nsv1015486	chr7:140567340-140581429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:140547200-140582400	Weak transcription	Fetal Stomach	stomach
3	chr7:140548200-140576400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:140549000-140594400	Weak transcription	Fetal Thymus	thymus
5	chr7:140549400-140579000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:140560600-140576200	Weak transcription	NH-A	brain
7	chr7:140562000-140576600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:140563600-140576400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:140563600-140586000	Weak transcription	K562	blood
10	chr7:140566600-140576400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:140568000-140581200	Weak transcription	Pancreas	Pancrea
12	chr7:140568000-140586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:140568200-140576000	Weak transcription	Brain Angular Gyrus	brain
14	chr7:140568200-140577000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:140568400-140576400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:140568400-140580800	Weak transcription	HepG2	liver
17	chr7:140568600-140576800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:140570600-140576000	Weak transcription	Adipose Nuclei	Adipose
19	chr7:140570600-140576400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:140570600-140578400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:140570600-140580400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:140570600-140606000	Weak transcription	Fetal Intestine Small	intestine
23	chr7:140570800-140575600	Weak transcription	Primary T cells from cord blood	blood
24	chr7:140570800-140576000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:140570800-140583000	Weak transcription	Primary B cells from cord blood	blood
26	chr7:140570800-140584200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:140571000-140574600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:140571000-140575800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:140571000-140580600	Weak transcription	Lung	lung
30	chr7:140571200-140574600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:140571400-140576200	Weak transcription	Dnd41	blood
32	chr7:140571400-140576600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:140572200-140574600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:140572800-140575800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:140573400-140575200	ZNF genes & repeats	GM12878-XiMat	blood
36	chr7:140573600-140574800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:140573600-140575800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:140573600-140575800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:140573600-140576800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:140573600-140577000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:140573600-140587800	Weak transcription	Left Ventricle	heart
42	chr7:140573800-140575600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:140573800-140576200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:140573800-140581600	Weak transcription	Fetal Heart	heart
45	chr7:140574400-140574800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:140574400-140574800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr7:140574400-140575000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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