Variant report

Variant	rs2470947
Chromosome Location	chr7:104587324-104587325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104585377..104587497-chr7:104613501..104615407,2	K562	blood:
2	chr7:103837147..103839337-chr7:104586230..104588686,2	K562	blood:
3	chr7:104581966..104590728-chr7:104651510..104656079,18	K562	blood:
4	chr7:104585526..104588327-chr7:104589037..104591902,3	K562	blood:
5	chr7:104583933..104587644-chr7:104651457..104655963,9	MCF-7	breast:
6	chr7:104585890..104587926-chr7:104648432..104650554,3	K562	blood:

Variant related genes	Relation type
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000164815	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10266287	0.89[ASN][1000 genomes]
rs10953460	0.87[ASN][1000 genomes]
rs2430484	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430486	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470938	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470939	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470940	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470941	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470942	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470943	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470944	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470945	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470948	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470949	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470950	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3823752	0.81[ASN][1000 genomes]
rs4727614	0.94[ASN][1000 genomes]
rs6955349	0.94[ASN][1000 genomes]
rs6965384	0.89[ASN][1000 genomes]
rs7776707	0.89[ASN][1000 genomes]
rs916705	0.94[AMR][1000 genomes];0.96[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104583200-104587800	Enhancers	Fetal Intestine Small	intestine
2	chr7:104583600-104587400	Enhancers	NHEK	skin
3	chr7:104583800-104587400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:104583800-104587400	Enhancers	HMEC	breast
5	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:104586000-104587400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:104586000-104587400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:104586000-104587400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:104586000-104587400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:104586000-104588000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:104586000-104588800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:104586200-104587400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:104586200-104587400	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:104586200-104587800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:104586200-104587800	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:104586400-104587400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr7:104586400-104587800	Enhancers	Primary B cells from cord blood	blood
18	chr7:104586400-104588600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:104586400-104590600	Weak transcription	Fetal Kidney	kidney
20	chr7:104586400-104591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:104586400-104591200	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:104586800-104587400	Enhancers	Spleen	Spleen
23	chr7:104586800-104588200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:104586800-104596800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:104587000-104588400	Weak transcription	Thymus	Thymus
26	chr7:104587000-104591000	Weak transcription	Adipose Nuclei	Adipose
27	chr7:104587000-104592200	Weak transcription	NH-A	brain
28	chr7:104587000-104597000	Weak transcription	Fetal Stomach	stomach
29	chr7:104587000-104597600	Weak transcription	Right Atrium	heart
30	chr7:104587200-104587400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:104587200-104587800	Enhancers	Colonic Mucosa	Colon
32	chr7:104587200-104588000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:104587200-104588400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:104587200-104588600	Weak transcription	Primary T cells from cord blood	blood
35	chr7:104587200-104590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:104587200-104590600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:104587200-104590600	Weak transcription	Small Intestine	intestine
38	chr7:104587200-104590600	Weak transcription	GM12878-XiMat	blood
39	chr7:104587200-104591000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:104587200-104591000	Weak transcription	Stomach Mucosa	stomach
41	chr7:104587200-104591200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:104587200-104591200	Weak transcription	NHDF-Ad	bronchial
43	chr7:104587200-104591200	Weak transcription	Osteobl	bone
44	chr7:104587200-104591400	Weak transcription	NHLF	lung
45	chr7:104587200-104591600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:104587200-104592000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:104587200-104592000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:104587200-104595600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:104587200-104596800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:104587200-104597000	Weak transcription	Fetal Thymus	thymus

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