Variant report

Variant	rs2227694
Chromosome Location	chr7:100780176-100780177
allele	A/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100491406..100495036-chr7:100779610..100782610,3	MCF-7	breast:
2	chr7:100780042..100783761-chr7:100802307..100806519,5	MCF-7	breast:
3	chr7:100737935..100741233-chr7:100779115..100781948,4	MCF-7	breast:
4	chr7:100779234..100783955-chr7:100785542..100789331,5	K562	blood:
5	chr7:100739541..100742504-chr7:100779535..100781642,2	K562	blood:
6	chr7:100779414..100783459-chr7:100798726..100802024,6	MCF-7	breast:
7	chr7:100779815..100782415-chr7:100806977..100808912,3	MCF-7	breast:
8	chr7:100776944..100779474-chr7:100779720..100781551,2	K562	blood:
9	chr7:100779282..100783217-chr7:100806580..100809194,3	MCF-7	breast:
10	chr7:100779247..100781431-chr7:100783632..100785540,2	K562	blood:
11	chr7:100472483..100474472-chr7:100779872..100781781,2	K562	blood:
12	chr7:100750302..100752925-chr7:100778093..100782237,4	MCF-7	breast:
13	chr7:100736774..100741131-chr7:100778938..100782147,6	MCF-7	breast:
14	chr7:100779862..100781891-chr7:100797684..100799209,2	K562	blood:
15	chr7:100743340..100745457-chr7:100777578..100780413,3	MCF-7	breast:
16	chr7:100767265..100771934-chr7:100778904..100783010,6	K562	blood:
17	chr7:100726373..100729644-chr7:100779186..100782906,3	MCF-7	breast:
18	chr7:100775835..100777683-chr7:100779286..100781024,2	MCF-7	breast:
19	chr7:100748249..100751163-chr7:100779870..100782174,3	K562	blood:
20	chr7:100779738..100781911-chr7:100836044..100838178,2	K562	blood:
21	chr7:100768262..100771684-chr7:100777874..100781992,4	K562	blood:
22	chr7:100779832..100783181-chr7:100805552..100807331,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128564	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000264425	Chromatin interaction
ENSG00000260336	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000106366	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000106367	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2005742	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2227657	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227660	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227663	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227668	0.88[EUR][1000 genomes]
rs2227704	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7459187	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757717	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788294	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
5	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100770400-100781600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:100770600-100780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:100770800-100780800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:100770800-100780800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:100770800-100781000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:100770800-100781800	Weak transcription	Gastric	stomach
7	chr7:100770800-100783000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:100771600-100781200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:100771800-100780600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:100772000-100780600	Weak transcription	Hela-S3	cervix
11	chr7:100772000-100781200	Weak transcription	Psoas Muscle	Psoas
12	chr7:100772000-100781800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:100772000-100797400	Weak transcription	Right Atrium	heart
14	chr7:100772200-100781800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:100772800-100780600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:100773200-100781600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:100773400-100780600	Strong transcription	Liver	Liver
18	chr7:100773600-100781200	Strong transcription	Fetal Stomach	stomach
19	chr7:100773800-100780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:100774000-100780200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:100774000-100781400	Strong transcription	Aorta	Aorta
22	chr7:100774200-100781600	Genic enhancers	NHDF-Ad	bronchial
23	chr7:100774600-100781600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:100776000-100781600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:100776200-100780800	Strong transcription	HSMMtube	muscle
26	chr7:100776600-100781600	Genic enhancers	NHEK	skin
27	chr7:100776800-100780200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:100776800-100781600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:100777400-100780600	Strong transcription	Right Ventricle	heart
30	chr7:100777400-100781000	Genic enhancers	A549	lung
31	chr7:100777400-100781200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:100777400-100781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:100777400-100781400	Genic enhancers	NHLF	lung
34	chr7:100777600-100781000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:100777800-100781200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:100778000-100780400	Genic enhancers	NH-A	brain
37	chr7:100778000-100780600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:100778000-100780600	Strong transcription	HepG2	liver
39	chr7:100778200-100780200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:100778200-100781000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:100778200-100781200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:100778200-100781400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:100778200-100781800	Genic enhancers	Osteobl	bone
44	chr7:100778400-100781000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:100778400-100781200	Strong transcription	Ovary	ovary
46	chr7:100778600-100780400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:100778600-100781400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:100778800-100781400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:100779000-100780200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:100779000-100781000	Weak transcription	Primary hematopoietic stem cells	blood

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