Variant report

Variant	rs7701447
Chromosome Location	chr5:93389907-93389908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10514379	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17083418	0.84[AFR][1000 genomes]
rs61034760	0.84[AFR][1000 genomes]
rs6874530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773535	0.84[AFR][1000 genomes]
rs73773542	1.00[AMR][1000 genomes]
rs73773558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7703367	1.00[YRI][hapmap];0.84[AFR][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	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93327000-93394600	Weak transcription	Small Intestine	intestine
2	chr5:93345000-93395200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:93348400-93399000	Weak transcription	Esophagus	oesophagus
4	chr5:93348800-93394000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:93351000-93394400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:93353400-93394600	Weak transcription	Fetal Kidney	kidney
7	chr5:93354800-93400200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:93354800-93400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:93355000-93398400	Weak transcription	Right Ventricle	heart
10	chr5:93357400-93393400	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:93357600-93393400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:93357600-93394600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:93357800-93399200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:93358000-93393000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:93358400-93396800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:93362000-93398600	Weak transcription	Gastric	stomach
17	chr5:93366000-93391400	Weak transcription	HSMM	muscle
18	chr5:93366400-93394400	Weak transcription	Left Ventricle	heart
19	chr5:93367600-93390000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:93368400-93393400	Weak transcription	Psoas Muscle	Psoas
21	chr5:93370400-93393400	Weak transcription	Brain Angular Gyrus	brain
22	chr5:93370600-93398400	Weak transcription	Aorta	Aorta
23	chr5:93376000-93394200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:93377600-93390600	Weak transcription	Fetal Stomach	stomach
25	chr5:93380400-93393000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:93380400-93394000	Weak transcription	Brain Germinal Matrix	brain
27	chr5:93380400-93394400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:93380400-93403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:93380600-93391400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:93380600-93394400	Weak transcription	Thymus	Thymus
31	chr5:93380600-93395800	Weak transcription	Fetal Brain Female	brain
32	chr5:93380600-93398400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:93380600-93399000	Weak transcription	Ovary	ovary
34	chr5:93380600-93399200	Weak transcription	Fetal Lung	lung
35	chr5:93380600-93402600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:93380600-93403200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:93380800-93396000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:93381000-93396000	Weak transcription	Placenta	Placenta
39	chr5:93381600-93394200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:93382400-93396600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:93382400-93398800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr5:93384200-93396600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:93384400-93393200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:93384600-93392200	Weak transcription	Primary T cells from cord blood	blood
45	chr5:93384600-93394600	Weak transcription	Pancreas	Pancrea
46	chr5:93384600-93395200	Weak transcription	Fetal Thymus	thymus
47	chr5:93384600-93396000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:93384600-93398200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:93384800-93395800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:93385000-93390200	Weak transcription	NHDF-Ad	bronchial

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