Variant report

Variant	rs2044389
Chromosome Location	chr8:8929461-8929462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1016512	0.84[EUR][1000 genomes]
rs1045528	0.85[EUR][1000 genomes]
rs10503395	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13249731	0.85[EUR][1000 genomes]
rs13250674	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13250919	0.84[AMR][1000 genomes]
rs13258661	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13260103	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13261370	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13263480	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13273769	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13273871	0.85[EUR][1000 genomes]
rs13274157	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13276286	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13276537	0.85[EUR][1000 genomes]
rs13281029	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17155162	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28393746	0.82[EUR][1000 genomes]
rs34111588	0.81[EUR][1000 genomes]
rs34391124	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34412730	0.83[EUR][1000 genomes]
rs34418902	0.81[EUR][1000 genomes]
rs34712023	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34752993	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34854114	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35227233	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35616716	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35808561	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3958881	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4841088	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4841092	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55634245	0.85[EUR][1000 genomes]
rs55696609	0.82[EUR][1000 genomes]
rs57938055	1.00[ASN][1000 genomes]
rs59681442	1.00[ASN][1000 genomes]
rs66483157	0.81[EUR][1000 genomes]
rs66869483	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67139167	0.85[EUR][1000 genomes]
rs67259528	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67434672	0.81[EUR][1000 genomes]
rs67575865	0.85[EUR][1000 genomes]
rs67958495	0.81[EUR][1000 genomes]
rs68043139	0.84[AMR][1000 genomes]
rs6985908	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6989707	0.85[EUR][1000 genomes]
rs6990134	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6993811	0.85[EUR][1000 genomes]
rs6994214	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6994551	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7008080	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7012302	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71514525	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71514527	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73195799	0.82[EUR][1000 genomes]
rs73197711	0.82[EUR][1000 genomes]
rs73197712	0.81[EUR][1000 genomes]
rs7387683	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7816149	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7816450	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7846644	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8923800-8932000	Weak transcription	A549	lung
3	chr8:8924000-8932000	Weak transcription	Right Atrium	heart
4	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:8924000-8937800	Weak transcription	Lung	lung
6	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
7	chr8:8924200-8930400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:8924600-8930200	Weak transcription	HSMM	muscle
9	chr8:8924600-8932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:8924800-8930200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:8925000-8932000	Weak transcription	Fetal Lung	lung
12	chr8:8925200-8930000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:8925200-8930200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:8925200-8932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:8925200-8932600	Weak transcription	Liver	Liver
16	chr8:8925600-8930200	Weak transcription	Fetal Heart	heart
17	chr8:8927800-8929800	Enhancers	Fetal Muscle Leg	muscle
18	chr8:8928000-8930200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:8928200-8929600	Enhancers	Aorta	Aorta
20	chr8:8928400-8932000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:8928400-8932000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:8928600-8929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:8928600-8931600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:8928600-8931800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:8928600-8932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:8928600-8932000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:8928600-8932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:8928600-8932000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:8928600-8932000	Weak transcription	HMEC	breast
30	chr8:8928600-8932000	Weak transcription	NHEK	skin
31	chr8:8928600-8932000	Weak transcription	Osteobl	bone
32	chr8:8928600-8933000	Weak transcription	Left Ventricle	heart
33	chr8:8928600-8933400	Weak transcription	Psoas Muscle	Psoas
34	chr8:8928600-8934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:8928800-8929600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:8928800-8930600	Weak transcription	HSMMtube	muscle
37	chr8:8928800-8931800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:8928800-8932000	Weak transcription	NH-A	brain
39	chr8:8929000-8930800	Enhancers	Rectal Smooth Muscle	rectum
40	chr8:8929200-8929800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:8929200-8932000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:8929200-8932000	Weak transcription	Adipose Nuclei	Adipose
43	chr8:8929400-8929600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:8929400-8930600	Weak transcription	Ovary	ovary
45	chr8:8929400-8930800	Weak transcription	HUVEC	blood vessel
46	chr8:8929400-8932000	Weak transcription	NHDF-Ad	bronchial
47	chr8:8929400-8932400	Weak transcription	Stomach Smooth Muscle	stomach

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