Variant report

Variant	rs2677589
Chromosome Location	chr7:95887469-95887470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1172416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1172418	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1172420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1172422	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1172426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1172427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2677593	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2766099	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030512	chr7:95229617-96114769	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1025458	chr7:95744799-96132806	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539028	chr7:95744799-96132806	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv888755	chr7:95880529-96046442	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:95863800-95897200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:95864000-95895200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:95864400-95897200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:95866400-95912800	Weak transcription	Pancreas	Pancrea
5	chr7:95866600-95903200	Weak transcription	Aorta	Aorta
6	chr7:95866800-95905200	Weak transcription	Left Ventricle	heart
7	chr7:95868200-95898000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:95873600-95916400	Weak transcription	Esophagus	oesophagus
9	chr7:95875400-95898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:95876400-95894200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:95880600-95897200	Weak transcription	Lung	lung
12	chr7:95881000-95912600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:95881200-95894800	Weak transcription	Adipose Nuclei	Adipose
14	chr7:95881400-95887600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:95882000-95895400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:95883000-95905200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:95883000-95905400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:95883600-95905200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:95883800-95894400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:95883800-95897000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:95883800-95919000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:95884000-95894800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:95884200-95914600	Weak transcription	HMEC	breast
24	chr7:95884600-95897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:95884800-95902800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:95884800-95914400	Weak transcription	NHEK	skin
27	chr7:95885000-95911400	Weak transcription	Psoas Muscle	Psoas
28	chr7:95886000-95894800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:95886200-95898000	Weak transcription	Ovary	ovary

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