Variant report

Variant	rs2444882
Chromosome Location	chr8:98964771-98964772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98963788..98966015-chr8:99056664..99058893,2	MCF-7	breast:
2	chr8:98964671..98967862-chr8:98969521..98972694,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156482	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2444875	0.91[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2444876	0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2444877	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512031	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2512033	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512043	0.82[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs2513848	0.82[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
2	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
3	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
4	chr8:98956600-98968800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:98956600-98973600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:98957200-98970800	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:98957200-98973600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:98957800-98969200	Weak transcription	Left Ventricle	heart
9	chr8:98962000-98965000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:98962000-98965000	Enhancers	Brain Substantia Nigra	brain
11	chr8:98962000-98965600	Enhancers	Fetal Stomach	stomach
12	chr8:98962200-98965000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:98962200-98965000	Enhancers	Brain Cingulate Gyrus	brain
14	chr8:98962200-98965200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:98962200-98965200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:98962600-98965400	Enhancers	Fetal Muscle Leg	muscle
17	chr8:98962600-98965600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:98962800-98964800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:98962800-98965000	Enhancers	Fetal Lung	lung
20	chr8:98963000-98964800	Enhancers	HSMMtube	muscle
21	chr8:98963000-98965000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:98963000-98965000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr8:98963000-98965400	Enhancers	Right Atrium	heart
24	chr8:98963200-98964800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:98963200-98964800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:98963200-98964800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:98963200-98965000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:98963200-98965000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:98963200-98965000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:98963200-98965000	Enhancers	NH-A	brain
31	chr8:98963400-98964800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:98963400-98965000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:98963400-98976000	Weak transcription	Fetal Brain Male	brain
34	chr8:98963600-98964800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:98963600-98964800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:98963600-98964800	Enhancers	Hela-S3	cervix
37	chr8:98963600-98964800	Flanking Active TSS	NHDF-Ad	bronchial
38	chr8:98963600-98965000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr8:98963600-98969000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:98963800-98964800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:98963800-98965000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr8:98963800-98970600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:98963800-98975200	Weak transcription	Placenta	Placenta
44	chr8:98964000-98964800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:98964000-98964800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:98964000-98965000	Enhancers	Brain Germinal Matrix	brain
47	chr8:98964200-98964800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:98964200-98964800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:98964200-98964800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr8:98964200-98964800	Enhancers	Psoas Muscle	Psoas

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