Variant report

Variant	rs28619031
Chromosome Location	chr7:66275986-66275987
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10236434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10248036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250162	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10266087	1.00[AMR][1000 genomes]
rs10266166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279154	1.00[EUR][1000 genomes]
rs28415224	1.00[EUR][1000 genomes]
rs28436055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438866	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28649220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28656996	1.00[AFR][1000 genomes]
rs28671466	1.00[EUR][1000 genomes]
rs58669678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58739839	1.00[EUR][1000 genomes]
rs73700311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700314	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702140	1.00[EUR][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	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr7:66232600-66279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:66236800-66276800	Strong transcription	Dnd41	blood
3	chr7:66236800-66277000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:66236800-66278400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:66237200-66277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:66238200-66276600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr7:66245600-66279200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:66245600-66279400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:66246200-66277800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:66246200-66279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:66248400-66277800	Strong transcription	Osteobl	bone
12	chr7:66248600-66276800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:66248800-66277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:66249400-66278600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:66250000-66279200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:66250000-66279200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:66250200-66277800	Strong transcription	Primary T cells from cord blood	blood
18	chr7:66250200-66278600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr7:66253200-66277600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66254000-66277400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:66254000-66278400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:66254200-66276000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:66254200-66277200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr7:66254200-66278600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:66254600-66278600	Strong transcription	HSMM	muscle
26	chr7:66254800-66276200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr7:66254800-66276800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:66254800-66276800	Strong transcription	HepG2	liver
29	chr7:66254800-66277800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr7:66255200-66277000	Strong transcription	HMEC	breast
31	chr7:66255600-66277200	Weak transcription	Fetal Heart	heart
32	chr7:66255600-66279800	Weak transcription	Right Atrium	heart
33	chr7:66256200-66278600	Strong transcription	Adipose Nuclei	Adipose
34	chr7:66256600-66278400	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:66256600-66278600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:66256600-66279000	Strong transcription	Fetal Stomach	stomach
37	chr7:66257000-66276800	Strong transcription	Fetal Intestine Large	intestine
38	chr7:66257200-66277800	Strong transcription	Ovary	ovary
39	chr7:66257200-66278400	Strong transcription	Thymus	Thymus
40	chr7:66257600-66278600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:66258400-66277000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:66258600-66277000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:66258600-66277200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:66259200-66276600	Strong transcription	Fetal Brain Female	brain
45	chr7:66259400-66276800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:66259400-66276800	Strong transcription	Fetal Thymus	thymus
47	chr7:66259400-66277000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:66259600-66277600	Strong transcription	Placenta	Placenta
49	chr7:66259800-66276800	Strong transcription	Liver	Liver
50	chr7:66259800-66277000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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