Variant report

Variant	rs2430486
Chromosome Location	chr7:104584410-104584411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104583958..104587024-chr7:104622658..104627290,6	K562	blood:
2	chr7:104584259..104587185-chr7:104637074..104639032,2	K562	blood:
3	chr7:104581950..104584556-chr7:104591161..104593888,2	K562	blood:
4	chr7:104568037..104570381-chr7:104584303..104585871,2	MCF-7	breast:
5	chr7:104584351..104587135-chr7:105088477..105090953,2	K562	blood:
6	chr7:104581695..104586955-chr7:104650737..104656079,18	K562	blood:
7	chr7:104579927..104586214-chr7:104652770..104656015,9	MCF-7	breast:
8	chr7:104581966..104590728-chr7:104651510..104656079,18	K562	blood:
9	chr7:104583958..104586878-chr7:104622233..104624393,3	K562	blood:
10	chr7:104583933..104587644-chr7:104651457..104655963,9	MCF-7	breast:
11	chr7:104582853..104584946-chr7:104772599..104775288,2	K562	blood:
12	chr7:104584116..104586907-chr7:104596307..104599294,2	K562	blood:
13	chr7:104584293..104587228-chr7:104624517..104626967,3	K562	blood:
14	chr7:104575632..104577873-chr7:104582930..104585448,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10266287	0.88[ASN][1000 genomes]
rs10953460	0.89[ASN][1000 genomes]
rs2430484	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470938	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470939	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470940	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470941	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470944	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470945	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470947	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470948	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470949	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470950	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4727614	0.92[ASN][1000 genomes]
rs6955349	0.92[ASN][1000 genomes]
rs6965384	0.88[ASN][1000 genomes]
rs7776707	0.88[ASN][1000 genomes]
rs916705	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104580000-104585400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:104581000-104585600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104581000-104586800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:104581400-104584800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:104582000-104585400	Enhancers	Fetal Intestine Large	intestine
6	chr7:104582000-104586400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr7:104582000-104586400	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr7:104582200-104584600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:104582400-104587200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:104582600-104584600	Enhancers	Pancreas	Pancrea
11	chr7:104582600-104585600	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:104583000-104584600	Active TSS	Colonic Mucosa	Colon
13	chr7:104583000-104586200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:104583200-104584600	Enhancers	Lung	lung
15	chr7:104583200-104584800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr7:104583200-104584800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:104583200-104585400	Enhancers	Fetal Thymus	thymus
18	chr7:104583200-104585600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:104583200-104586400	Enhancers	Fetal Heart	heart
20	chr7:104583200-104587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:104583200-104587800	Enhancers	Fetal Intestine Small	intestine
22	chr7:104583400-104585400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:104583400-104586200	Weak transcription	Small Intestine	intestine
24	chr7:104583600-104584800	Enhancers	Brain Hippocampus Middle	brain
25	chr7:104583600-104585000	Flanking Active TSS	HepG2	liver
26	chr7:104583600-104587400	Enhancers	NHEK	skin
27	chr7:104583800-104584600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:104583800-104584800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:104583800-104584800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:104583800-104584800	Flanking Active TSS	GM12878-XiMat	blood
31	chr7:104583800-104584800	Flanking Active TSS	HUVEC	blood vessel
32	chr7:104583800-104585000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:104583800-104585200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:104583800-104585200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr7:104583800-104587200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:104583800-104587400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:104583800-104587400	Enhancers	HMEC	breast
38	chr7:104584000-104584600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:104584000-104584600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:104584000-104584600	Enhancers	Esophagus	oesophagus
41	chr7:104584000-104584600	Flanking Active TSS	Hela-S3	cervix
42	chr7:104584000-104584800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:104584000-104584800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:104584000-104584800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:104584000-104584800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr7:104584000-104584800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:104584000-104584800	Enhancers	Right Ventricle	heart
48	chr7:104584000-104585200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:104584000-104585200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:104584000-104585400	Enhancers	Stomach Smooth Muscle	stomach

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