Variant report

Variant	rs11976790
Chromosome Location	chr7:25889721-25889722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:25819936..25821462-chr7:25889639..25891788,2	K562	blood:
2	chr7:25889535..25891445-chr7:25893362..25896566,3	MCF-7	breast:
3	chr7:25883299..25886536-chr7:25889518..25893858,4	K562	blood:
4	chr7:25889250..25893042-chr7:25894239..25896921,6	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10225976	0.92[EUR][1000 genomes]
rs10232819	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241659	0.92[EUR][1000 genomes]
rs10261019	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10271088	0.91[EUR][1000 genomes]
rs10271460	0.92[EUR][1000 genomes]
rs10274306	0.92[EUR][1000 genomes]
rs10951112	0.93[ASN][1000 genomes]
rs12535837	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12700664	0.81[ASN][1000 genomes]
rs12700666	0.81[ASN][1000 genomes]
rs12700667	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13231733	0.81[ASN][1000 genomes]
rs1376527	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451382	0.92[EUR][1000 genomes]
rs1451383	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1451385	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2060765	0.82[EUR][1000 genomes]
rs2893220	0.92[EUR][1000 genomes]
rs3902751	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722526	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722527	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722528	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4722529	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4722530	0.93[ASN][1000 genomes]
rs4722531	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376645	0.93[EUR][1000 genomes]
rs60643312	0.92[EUR][1000 genomes]
rs61140461	0.92[EUR][1000 genomes]
rs62447896	0.92[EUR][1000 genomes]
rs6461887	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958350	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961848	0.81[ASN][1000 genomes]
rs7782246	0.91[EUR][1000 genomes]
rs7782292	0.92[EUR][1000 genomes]
rs7793216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798431	0.92[EUR][1000 genomes]
rs979165	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987000	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830928	chr7:25820147-25965014	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25882200-25892000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:25883400-25891000	Enhancers	Stomach Smooth Muscle	stomach
3	chr7:25883400-25891200	Enhancers	Fetal Heart	heart
4	chr7:25883800-25892600	Enhancers	Fetal Lung	lung
5	chr7:25884600-25890600	Enhancers	Fetal Stomach	stomach
6	chr7:25884600-25890800	Enhancers	Placenta	Placenta
7	chr7:25884800-25889800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:25885200-25890800	Enhancers	Fetal Muscle Leg	muscle
9	chr7:25885400-25890800	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:25885600-25891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:25885800-25891400	Enhancers	Colon Smooth Muscle	Colon
12	chr7:25886600-25891600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:25887000-25890200	Weak transcription	Brain Germinal Matrix	brain
14	chr7:25887600-25890600	Weak transcription	Colonic Mucosa	Colon
15	chr7:25887600-25891200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:25887600-25891400	Weak transcription	HMEC	breast
17	chr7:25887800-25890400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:25887800-25890800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:25888200-25889800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:25888200-25889800	Enhancers	Ovary	ovary
21	chr7:25888400-25890400	Enhancers	Fetal Intestine Small	intestine
22	chr7:25888600-25889800	Enhancers	Fetal Kidney	kidney
23	chr7:25888800-25889800	Flanking Active TSS	HSMM	muscle
24	chr7:25888800-25890200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:25888800-25890400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:25888800-25890400	Enhancers	Brain Anterior Caudate	brain
27	chr7:25888800-25891600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:25889000-25889800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:25889000-25889800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:25889000-25889800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:25889000-25889800	Enhancers	Aorta	Aorta
32	chr7:25889000-25889800	Enhancers	Brain Angular Gyrus	brain
33	chr7:25889000-25889800	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:25889000-25889800	Enhancers	Brain Hippocampus Middle	brain
35	chr7:25889000-25889800	Enhancers	Brain Substantia Nigra	brain
36	chr7:25889000-25889800	Enhancers	Psoas Muscle	Psoas
37	chr7:25889000-25889800	Flanking Active TSS	Osteobl	bone
38	chr7:25889000-25890000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:25889000-25890000	Flanking Active TSS	A549	lung
40	chr7:25889000-25890000	Enhancers	HUVEC	blood vessel
41	chr7:25889000-25890000	Enhancers	K562	blood
42	chr7:25889000-25890200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:25889000-25890400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:25889000-25891400	Bivalent Enhancer	HepG2	liver
45	chr7:25889000-25891600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:25889200-25889800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:25889200-25889800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:25889200-25890800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:25889400-25889800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:25889400-25889800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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