Variant report

Variant	rs1441396
Chromosome Location	chr8:96238535-96238536
allele	A/G
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96223779..96226497-chr8:96236467..96238844,2	K562	blood:
2	chr8:96204194..96207440-chr8:96236906..96239736,3	MCF-7	breast:
3	chr8:96145188..96147902-chr8:96236051..96240393,4	K562	blood:
4	chr8:96222260..96224188-chr8:96237998..96239656,2	MCF-7	breast:
5	chr8:96039470..96042211-chr8:96236701..96239677,2	K562	blood:
6	chr8:96192843..96194703-chr8:96238022..96240558,2	K562	blood:
7	chr8:96078172..96080522-chr8:96236324..96239006,2	MCF-7	breast:
8	chr8:96163530..96165842-chr8:96237237..96239389,2	MCF-7	breast:
9	chr8:96145749..96147825-chr8:96236619..96239498,2	MCF-7	breast:
10	chr8:96236593..96238582-chr8:96243971..96246452,2	K562	blood:
11	chr8:96234462..96239842-chr8:96279058..96283088,6	K562	blood:
12	chr8:96228952..96231247-chr8:96237951..96240683,3	MCF-7	breast:
13	chr8:96143360..96148175-chr8:96235522..96240876,10	MCF-7	breast:
14	chr8:96236752..96238827-chr8:128748699..128750665,2	MCF-7	breast:
15	chr8:96233041..96235359-chr8:96238288..96241007,3	K562	blood:
16	chr8:96148421..96149927-chr8:96235607..96238590,2	K562	blood:
17	chr8:96232323..96234888-chr8:96235835..96240054,4	MCF-7	breast:
18	chr8:96236807..96240008-chr8:96246119..96247780,3	MCF-7	breast:
19	chr8:96238086..96240049-chr8:96241356..96243074,2	K562	blood:
20	chr8:96096993..96099961-chr8:96235932..96238973,3	MCF-7	breast:
21	chr8:96145188..96147654-chr8:96237767..96240393,2	K562	blood:
22	chr8:96087772..96089911-chr8:96238508..96240959,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10956943	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13259182	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13263858	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13270711	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13279671	1.00[CEU][hapmap];0.95[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1441394	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1441395	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2083616	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4308702	0.89[JPT][hapmap]
rs4509290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs62522651	0.98[ASN][1000 genomes]
rs876261	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs879113	0.88[ASN][1000 genomes]
rs879997	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs879999	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs894151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96228000-96238800	Weak transcription	Thymus	Thymus
3	chr8:96231600-96241600	Enhancers	Fetal Thymus	thymus
4	chr8:96233200-96238800	Weak transcription	Spleen	Spleen
5	chr8:96234000-96240000	Weak transcription	Primary T cells from cord blood	blood
6	chr8:96234200-96239000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:96235000-96239000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:96235000-96239600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:96235000-96239600	Enhancers	Placenta	Placenta
10	chr8:96235000-96242200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:96235200-96238600	Enhancers	Left Ventricle	heart
12	chr8:96235200-96238800	Enhancers	Fetal Heart	heart
13	chr8:96235200-96239000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:96235200-96239000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:96235200-96239000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:96235200-96239600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
18	chr8:96235400-96238800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:96235400-96239000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:96235400-96239000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:96235400-96239000	Enhancers	Brain Anterior Caudate	brain
22	chr8:96235400-96239400	Enhancers	Esophagus	oesophagus
23	chr8:96235400-96239400	Enhancers	Fetal Muscle Leg	muscle
24	chr8:96235400-96240000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:96235600-96239000	Enhancers	Right Ventricle	heart
26	chr8:96235600-96239200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:96235600-96239600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:96235800-96239400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr8:96235800-96240000	Enhancers	Brain Hippocampus Middle	brain
30	chr8:96236200-96238800	Enhancers	HMEC	breast
31	chr8:96236200-96238800	Enhancers	Osteobl	bone
32	chr8:96236200-96239000	Enhancers	NHDF-Ad	bronchial
33	chr8:96236400-96238600	Weak transcription	Brain Angular Gyrus	brain
34	chr8:96236400-96239000	Enhancers	Hela-S3	cervix
35	chr8:96236600-96239000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:96236600-96239000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:96236600-96239000	Enhancers	NHEK	skin
38	chr8:96236600-96239800	Enhancers	Fetal Intestine Large	intestine
39	chr8:96237000-96239000	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:96237000-96239000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:96237200-96238800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:96237200-96239000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:96237200-96239800	Enhancers	Fetal Intestine Small	intestine
44	chr8:96237400-96239000	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:96237400-96239200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr8:96237400-96239600	Flanking Active TSS	K562	blood
47	chr8:96237600-96238600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:96237600-96238600	Enhancers	Adipose Nuclei	Adipose
49	chr8:96237600-96238600	Flanking Active TSS	HepG2	liver
50	chr8:96237600-96238600	Enhancers	HSMMtube	muscle

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