Variant report

Variant	rs2599718
Chromosome Location	chr8:96041267-96041268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96040756..96042437-chr8:96054140..96055940,2	MCF-7	breast:
2	chr8:95961231..95962900-chr8:96040386..96042381,2	MCF-7	breast:
3	chr8:96038983..96041766-chr8:96074562..96076665,3	MCF-7	breast:
4	chr8:96039022..96041365-chr8:96246280..96249199,2	K562	blood:
5	chr8:96039693..96042817-chr8:96043351..96047651,4	K562	blood:
6	chr8:96040854..96042817-chr8:96044732..96047224,2	K562	blood:
7	chr8:96039470..96042211-chr8:96236701..96239677,2	K562	blood:
8	chr8:95960153..95962866-chr8:96040746..96043137,2	MCF-7	breast:
9	chr8:96035744..96039512-chr8:96039788..96046844,8	K562	blood:
10	chr8:96002471..96005226-chr8:96038808..96041557,2	MCF-7	breast:
11	chr8:96040889..96043562-chr8:96144686..96147417,3	MCF-7	breast:
12	chr8:95905480..95909063-chr8:96040642..96043498,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253878	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000156170	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10105495	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2459966	0.84[AMR][1000 genomes]
rs2599716	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2599719	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2599723	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678821	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678832	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678836	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2945553	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62523112	0.95[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96037800-96070200	Weak transcription	Aorta	Aorta
2	chr8:96038000-96063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:96038200-96042600	Weak transcription	Fetal Stomach	stomach
4	chr8:96038200-96043200	Weak transcription	Fetal Lung	lung
5	chr8:96038200-96045000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:96038200-96045400	Weak transcription	Ovary	ovary
7	chr8:96038200-96046000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:96038200-96050200	Weak transcription	Spleen	Spleen
9	chr8:96038200-96054400	Weak transcription	Fetal Kidney	kidney
10	chr8:96038200-96058800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:96038200-96059200	Weak transcription	Right Ventricle	heart
12	chr8:96038200-96061000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:96038200-96061200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:96038200-96061200	Weak transcription	Psoas Muscle	Psoas
15	chr8:96038200-96072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
17	chr8:96038400-96041600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:96038400-96042800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:96038400-96043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:96038400-96043200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:96038400-96044200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:96038400-96044400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:96038400-96044400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:96038400-96044400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:96038400-96044400	Weak transcription	HSMM	muscle
26	chr8:96038400-96044600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:96038400-96044600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:96038400-96044600	Weak transcription	Adipose Nuclei	Adipose
29	chr8:96038400-96044600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:96038400-96044800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:96038400-96044800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:96038400-96044800	Weak transcription	Brain Anterior Caudate	brain
33	chr8:96038400-96044800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:96038400-96044800	Weak transcription	Placenta	Placenta
35	chr8:96038400-96044800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:96038400-96045400	Weak transcription	Brain Germinal Matrix	brain
37	chr8:96038400-96045600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:96038400-96045600	Weak transcription	NHEK	skin
39	chr8:96038400-96045800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:96038400-96046000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:96038400-96048600	Weak transcription	Osteobl	bone
42	chr8:96038400-96054000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:96038400-96054000	Weak transcription	HUVEC	blood vessel
44	chr8:96038400-96054200	Weak transcription	Fetal Heart	heart
45	chr8:96038400-96054200	Weak transcription	NH-A	brain
46	chr8:96038400-96054200	Weak transcription	NHDF-Ad	bronchial
47	chr8:96038400-96054400	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:96038400-96055000	Weak transcription	HSMMtube	muscle
49	chr8:96038400-96060600	Weak transcription	NHLF	lung
50	chr8:96038400-96061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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