Variant report

Variant	rs55856296
Chromosome Location	chr8:95569512-95569513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:95568813-95569527	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95568828..95570983-chr8:95731754..95733719,2	MCF-7	breast:
2	chr8:95567356..95569576-chr8:95586722..95588643,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1429	TF binding region
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12375388	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17716313	1.00[ASN][1000 genomes]
rs1866846	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1978553	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289455	0.85[ASN][1000 genomes]
rs2289456	0.85[ASN][1000 genomes]
rs2304766	0.95[ASN][1000 genomes]
rs4734280	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4735296	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638821	0.90[ASN][1000 genomes]
rs55695806	0.95[ASN][1000 genomes]
rs55895446	0.86[ASN][1000 genomes]
rs56119282	0.90[ASN][1000 genomes]
rs56220903	0.97[ASN][1000 genomes]
rs56306515	0.81[ASN][1000 genomes]
rs56372696	0.85[ASN][1000 genomes]
rs61740763	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1017256	chr8:95555083-95570079	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1026768	chr8:95556054-95569566	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1033318	chr8:95556054-95576338	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1032065	chr8:95556054-95578349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1016339	chr8:95556054-95585807	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1033345	chr8:95556375-95570533	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1029802	chr8:95556959-95578349	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv3584580	chr8:95557287-95576350	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv438072	chr8:95558694-95571443	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv971684	chr8:95566071-95577827	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95566800-95569800	Weak transcription	Stomach Mucosa	stomach
2	chr8:95566800-95573200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:95566800-95573200	Weak transcription	Spleen	Spleen
4	chr8:95566800-95575200	Weak transcription	Small Intestine	intestine
5	chr8:95566800-95576000	Weak transcription	Fetal Heart	heart
6	chr8:95567000-95569600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:95567000-95569600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:95567000-95569800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:95567000-95569800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:95567000-95569800	Weak transcription	Esophagus	oesophagus
11	chr8:95567000-95569800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:95567000-95569800	Weak transcription	Fetal Kidney	kidney
13	chr8:95567000-95569800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:95567000-95569800	Weak transcription	Fetal Stomach	stomach
15	chr8:95567000-95569800	Weak transcription	Gastric	stomach
16	chr8:95567000-95569800	Weak transcription	Ovary	ovary
17	chr8:95567000-95569800	Weak transcription	Right Ventricle	heart
18	chr8:95567000-95570000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:95567000-95570000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:95567000-95570400	Weak transcription	Hela-S3	cervix
21	chr8:95567000-95570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:95567000-95570800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:95567000-95571800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:95567000-95572200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:95567000-95573000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:95567000-95573200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:95567000-95573200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:95567000-95573200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:95567000-95573200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:95567000-95573200	Weak transcription	Left Ventricle	heart
31	chr8:95567000-95573200	Weak transcription	Thymus	Thymus
32	chr8:95567000-95575000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:95567000-95575200	Weak transcription	Brain Anterior Caudate	brain
34	chr8:95567000-95575200	Weak transcription	Fetal Brain Female	brain
35	chr8:95567000-95575200	Weak transcription	Pancreas	Pancrea
36	chr8:95567000-95575200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:95567000-95575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:95567000-95575400	Weak transcription	Placenta	Placenta
39	chr8:95567000-95575800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:95567000-95576200	Weak transcription	Brain Angular Gyrus	brain
41	chr8:95567000-95576600	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:95567000-95576600	Weak transcription	Fetal Intestine Large	intestine
43	chr8:95567000-95576800	Weak transcription	Lung	lung
44	chr8:95567000-95577000	Weak transcription	Fetal Thymus	thymus
45	chr8:95567000-95577200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:95567000-95577400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:95567000-95577800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:95567000-95578800	Weak transcription	Fetal Lung	lung
49	chr8:95567000-95579200	Weak transcription	Aorta	Aorta
50	chr8:95567000-95579200	Weak transcription	Colon Smooth Muscle	Colon

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