Variant report

Variant	rs28411680
Chromosome Location	chr7:5730168-5730169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5719461..5721503-chr7:5728501..5731331,2	K562	blood:
2	chr7:5726446..5729138-chr7:5729768..5731774,3	MCF-7	breast:
3	chr7:5723586..5725455-chr7:5729876..5731680,2	K562	blood:
4	chr7:5729527..5732207-chr7:5738007..5741204,4	K562	blood:

Variant related genes	Relation type
ENSG00000237738	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10230002	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242141	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10276132	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10280662	0.81[AFR][1000 genomes]
rs28418908	1.00[AMR][1000 genomes]
rs28446539	1.00[AMR][1000 genomes]
rs28578361	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28588522	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28720074	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58469547	1.00[AMR][1000 genomes]
rs6950757	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6968103	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338077	0.88[AFR][1000 genomes]
rs73338095	0.88[AFR][1000 genomes]
rs73338096	1.00[AMR][1000 genomes]
rs73341621	1.00[AMR][1000 genomes]
rs73341623	1.00[AMR][1000 genomes]
rs73341624	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	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
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:5713000-5730200	Weak transcription	Gastric	stomach
3	chr7:5718400-5731200	Weak transcription	HUVEC	blood vessel
4	chr7:5718400-5735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:5720200-5741400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:5720600-5730400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:5721800-5730400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:5723000-5740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:5723400-5730200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:5723400-5740600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:5723600-5730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:5723600-5740600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:5724400-5732000	Weak transcription	Hela-S3	cervix
15	chr7:5725400-5730200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:5725400-5730200	Weak transcription	Spleen	Spleen
17	chr7:5725400-5730400	Weak transcription	Fetal Brain Female	brain
18	chr7:5725400-5730600	Weak transcription	Brain Germinal Matrix	brain
19	chr7:5725400-5730800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:5725400-5733000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:5725600-5730400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:5725600-5730400	Weak transcription	Fetal Brain Male	brain
23	chr7:5726000-5737000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:5726200-5730400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:5726200-5731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr7:5726400-5730800	Weak transcription	Thymus	Thymus
27	chr7:5726600-5730200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:5726600-5730200	Weak transcription	Esophagus	oesophagus
29	chr7:5726600-5730400	Weak transcription	Brain Angular Gyrus	brain
30	chr7:5726600-5730600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:5726600-5730600	Weak transcription	NHEK	skin
32	chr7:5726600-5730800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:5726600-5733000	Weak transcription	K562	blood
34	chr7:5727000-5731000	Genic enhancers	Fetal Stomach	stomach
35	chr7:5727200-5730400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:5727200-5730400	Enhancers	NHLF	lung
37	chr7:5727200-5730600	Enhancers	Adipose Nuclei	Adipose
38	chr7:5727400-5730400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr7:5727400-5732200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:5727600-5730400	Weak transcription	Psoas Muscle	Psoas
41	chr7:5727600-5730400	Enhancers	HSMMtube	muscle
42	chr7:5727600-5732200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr7:5727800-5733000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:5728000-5730200	Enhancers	Colon Smooth Muscle	Colon
45	chr7:5728000-5730600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:5728000-5731800	Enhancers	Brain Hippocampus Middle	brain
47	chr7:5728000-5732800	Enhancers	Primary B cells from peripheral blood	blood
48	chr7:5728200-5730200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:5728200-5730400	Enhancers	Duodenum Mucosa	Duodenum
50	chr7:5728200-5730600	Weak transcription	Dnd41	blood

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