Variant report

Variant	rs2470944
Chromosome Location	chr7:104585516-104585517
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104583958..104587024-chr7:104622658..104627290,6	K562	blood:
2	chr7:104585377..104587497-chr7:104613501..104615407,2	K562	blood:
3	chr7:104584259..104587185-chr7:104637074..104639032,2	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	chr7:104584116..104586907-chr7:104596307..104599294,2	K562	blood:
12	chr7:104584293..104587228-chr7:104624517..104626967,3	K562	blood:

No data

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10266287	0.89[ASN][1000 genomes]
rs10953460	0.87[ASN][1000 genomes]
rs10953468	0.94[JPT][hapmap]
rs1144	0.94[JPT][hapmap]
rs2192932	0.87[JPT][hapmap];0.81[YRI][hapmap]
rs2299304	0.94[JPT][hapmap]
rs2430484	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430486	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470938	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470939	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470940	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470941	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470945	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470947	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470948	0.80[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470949	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470950	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3823752	0.82[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs4727614	0.94[ASN][1000 genomes]
rs6948885	0.94[JPT][hapmap]
rs6950620	0.94[JPT][hapmap]
rs6955349	0.94[ASN][1000 genomes]
rs6965384	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs6967587	0.94[JPT][hapmap]
rs7776707	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.89[ASN][1000 genomes]
rs7797912	0.94[JPT][hapmap]
rs916705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104581000-104585600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:104581000-104586800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:104582000-104586400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:104582000-104586400	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr7:104582400-104587200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:104582600-104585600	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:104583000-104586200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:104583200-104585600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:104583200-104586400	Enhancers	Fetal Heart	heart
10	chr7:104583200-104587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:104583200-104587800	Enhancers	Fetal Intestine Small	intestine
12	chr7:104583400-104586200	Weak transcription	Small Intestine	intestine
13	chr7:104583600-104587400	Enhancers	NHEK	skin
14	chr7:104583800-104587200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:104583800-104587400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:104583800-104587400	Enhancers	HMEC	breast
17	chr7:104584000-104585600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:104584000-104585600	Enhancers	Fetal Lung	lung
19	chr7:104584000-104586000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:104584000-104586000	Flanking Active TSS	Thymus	Thymus
21	chr7:104584000-104586200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr7:104584000-104586200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:104584000-104586400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr7:104584000-104586400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:104584000-104586600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr7:104584000-104587000	Enhancers	NH-A	brain
27	chr7:104584000-104587200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:104584000-104587200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:104584000-104587200	Enhancers	Osteobl	bone
30	chr7:104584200-104585600	Weak transcription	Left Ventricle	heart
31	chr7:104584200-104586200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:104584200-104587000	Enhancers	Fetal Muscle Leg	muscle
33	chr7:104584200-104587000	Enhancers	Fetal Stomach	stomach
34	chr7:104584200-104587000	Enhancers	Right Atrium	heart
35	chr7:104584200-104587200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:104584200-104587200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:104584400-104585600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:104584400-104585600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:104584400-104585800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:104584400-104586200	Enhancers	Placenta	Placenta
41	chr7:104584400-104586400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:104584400-104587200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:104584600-104585600	Enhancers	Fetal Kidney	kidney
44	chr7:104584600-104585600	Weak transcription	Lung	lung
45	chr7:104584600-104585600	Weak transcription	Pancreas	Pancrea
46	chr7:104584600-104585800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:104584600-104585800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:104584600-104585800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:104584600-104585800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:104584600-104586800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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