Variant report

Variant	rs3812494
Chromosome Location	chr8:10275849-10275850
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10274936..10276062-chr8:10331610..10332507,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253641	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10098744	1.00[JPT][hapmap]
rs10107920	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11250003	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11991747	1.00[JPT][hapmap]
rs13258495	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17151885	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17151901	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28439326	1.00[ASN][1000 genomes]
rs59358774	1.00[ASN][1000 genomes]
rs6601456	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601458	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6999282	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7003525	1.00[ASN][1000 genomes]
rs73536280	1.00[ASN][1000 genomes]
rs7817793	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818294	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7836668	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7839222	1.00[ASN][1000 genomes]
rs9650652	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv465460	chr8:10241411-10290566	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv610265	chr8:10241411-10290566	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv610266	chr8:10250758-10294330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1019701	chr8:10254709-10279269	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890348	chr8:10265712-10289663	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10263600-10283400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:10271000-10281200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:10272400-10276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10272800-10276000	Enhancers	Spleen	Spleen
6	chr8:10274000-10276000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10274000-10277400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:10274000-10277600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:10274000-10277600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:10274200-10277200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:10274400-10276000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:10274400-10276000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:10274400-10276000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:10274400-10276000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:10274400-10276000	Enhancers	HSMMtube	muscle
16	chr8:10274600-10276000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:10274600-10276000	Enhancers	HSMM	muscle
18	chr8:10274600-10276200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:10274600-10276200	Enhancers	Brain Angular Gyrus	brain
20	chr8:10274600-10276200	Enhancers	NH-A	brain
21	chr8:10274600-10276800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:10274600-10277200	Enhancers	Fetal Brain Male	brain
23	chr8:10274800-10276000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:10274800-10276000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:10274800-10276000	Enhancers	Fetal Kidney	kidney
26	chr8:10274800-10276000	Enhancers	Fetal Thymus	thymus
27	chr8:10274800-10276200	Enhancers	Brain Hippocampus Middle	brain
28	chr8:10274800-10276200	Enhancers	Fetal Muscle Leg	muscle
29	chr8:10274800-10276400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:10275000-10276000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:10275000-10276000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:10275000-10276000	Enhancers	Adipose Nuclei	Adipose
33	chr8:10275000-10276000	Enhancers	Brain Substantia Nigra	brain
34	chr8:10275000-10276200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:10275000-10276200	Enhancers	Liver	Liver
36	chr8:10275000-10276200	Enhancers	Fetal Heart	heart
37	chr8:10275000-10280400	Weak transcription	Fetal Brain Female	brain
38	chr8:10275200-10276000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:10275200-10276000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:10275200-10276000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr8:10275200-10276000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:10275200-10276000	Enhancers	Brain Anterior Caudate	brain
43	chr8:10275200-10276000	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:10275200-10276000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:10275200-10276000	Enhancers	Left Ventricle	heart
46	chr8:10275200-10276000	Enhancers	Lung	lung
47	chr8:10275200-10276000	Enhancers	Psoas Muscle	Psoas
48	chr8:10275200-10276000	Enhancers	Right Atrium	heart
49	chr8:10275200-10276200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:10275200-10276200	Enhancers	Brain Cingulate Gyrus	brain

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