Variant report

Variant	rs2727476
Chromosome Location	chr7:129547548-129547549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129537252..129539888-chr7:129546780..129548970,2	K562	blood:
2	chr7:129537252..129539282-chr7:129546661..129548280,2	K562	blood:
3	chr7:129542390..129544026-chr7:129545338..129548140,2	MCF-7	breast:
4	chr7:129544543..129549195-chr7:129554830..129557453,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRF1-2	chr7:129546220-129548631	NONHSAT123319

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1725079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2255639	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2631601	0.96[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2631604	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2693722	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2693740	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2693741	1.00[EUR][1000 genomes]
rs2693742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2693743	1.00[EUR][1000 genomes]
rs2693746	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693747	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2693748	1.00[EUR][1000 genomes]
rs2708641	1.00[EUR][1000 genomes]
rs2708653	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2727459	1.00[EUR][1000 genomes]
rs2727460	1.00[EUR][1000 genomes]
rs2727461	1.00[EUR][1000 genomes]
rs2727465	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727467	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2727480	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2727481	1.00[EUR][1000 genomes]
rs2727485	1.00[EUR][1000 genomes]
rs2727494	1.00[EUR][1000 genomes]
rs2727495	1.00[EUR][1000 genomes]
rs2727501	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs73469781	1.00[EUR][1000 genomes]
rs73469795	1.00[EUR][1000 genomes]
rs7804954	1.00[EUR][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129513200-129548600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
3	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
6	chr7:129522000-129548200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:129522600-129547800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:129522600-129548400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:129522600-129548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:129526000-129548200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:129531600-129548400	Weak transcription	Fetal Brain Female	brain
14	chr7:129536200-129548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
16	chr7:129537200-129552000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:129539600-129554800	Weak transcription	Dnd41	blood
18	chr7:129541000-129552400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:129541200-129548000	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr7:129541400-129548600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:129541400-129551800	Weak transcription	NHLF	lung
22	chr7:129541600-129547800	Weak transcription	HMEC	breast
23	chr7:129541600-129548400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:129541800-129559200	Weak transcription	Esophagus	oesophagus
25	chr7:129543000-129548200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:129543000-129549200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:129543000-129553600	Weak transcription	Gastric	stomach
28	chr7:129544000-129548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:129544000-129548200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:129544400-129549200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:129544600-129551200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:129544800-129547800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:129544800-129548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:129544800-129549000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:129544800-129549000	Weak transcription	Fetal Stomach	stomach
36	chr7:129544800-129559400	Weak transcription	Lung	lung
37	chr7:129545400-129548400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:129545400-129548400	Enhancers	Hela-S3	cervix
39	chr7:129545400-129553600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:129545800-129547600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:129545800-129547800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:129545800-129548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:129545800-129550600	Weak transcription	Thymus	Thymus
44	chr7:129545800-129551400	Weak transcription	NHEK	skin
45	chr7:129545800-129553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:129546000-129548200	Weak transcription	Brain Angular Gyrus	brain
47	chr7:129546200-129548400	Enhancers	Liver	Liver
48	chr7:129546200-129549200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:129546400-129547600	Enhancers	Fetal Kidney	kidney
50	chr7:129546400-129548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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