Variant report

Variant	rs59987579
Chromosome Location	chr7:5673974-5673975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5630981..5635374-chr7:5673788..5678514,7	K562	blood:
2	chr7:5663770..5665922-chr7:5672442..5674114,2	K562	blood:
3	chr7:5673316..5675722-chr7:5676107..5679530,3	K562	blood:
4	chr7:5661377..5664356-chr7:5673284..5675740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs35780366	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807580	0.85[AMR][1000 genomes]
rs3823680	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57309152	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs59086001	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60181616	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60889993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971289	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73339903	0.85[AMR][1000 genomes]
rs7804319	1.00[ASN][1000 genomes]
rs8772	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9691118	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
8	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
9	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
10	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
14	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	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	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:5666200-5674200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:5667000-5674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:5668600-5675400	Weak transcription	Hela-S3	cervix
5	chr7:5669400-5674200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:5669600-5674000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:5669600-5674000	Enhancers	Brain Anterior Caudate	brain
8	chr7:5669600-5675800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:5669800-5677600	Genic enhancers	Fetal Stomach	stomach
10	chr7:5670400-5674200	Weak transcription	A549	lung
11	chr7:5670400-5675800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:5670800-5674800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:5671200-5674000	Weak transcription	NHEK	skin
14	chr7:5671600-5674000	Weak transcription	HMEC	breast
15	chr7:5671600-5674200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:5671800-5674200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:5671800-5674200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:5671800-5675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:5671800-5682800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:5672000-5674200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:5672000-5675200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:5672000-5681200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:5672200-5674000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:5672200-5674000	Weak transcription	Esophagus	oesophagus
25	chr7:5672400-5675200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:5672600-5674000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:5672600-5674000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:5672600-5674000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:5672600-5674000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:5672600-5674200	Weak transcription	Gastric	stomach
31	chr7:5672600-5674200	Weak transcription	Lung	lung
32	chr7:5672600-5674200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:5672600-5674200	Weak transcription	HepG2	liver
34	chr7:5672600-5675400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:5672600-5675400	Enhancers	Placenta	Placenta
36	chr7:5672800-5674000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:5672800-5674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:5672800-5674200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:5672800-5677200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:5672800-5677400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:5673000-5674000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:5673000-5674000	Weak transcription	Spleen	Spleen
43	chr7:5673000-5674200	Enhancers	Brain Substantia Nigra	brain
44	chr7:5673000-5674400	Enhancers	Fetal Thymus	thymus
45	chr7:5673000-5674800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:5673000-5677200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:5673000-5677200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:5673000-5677600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:5673000-5677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:5673000-5677800	Enhancers	H1 Cell Line	embryonic stem cell

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