Variant report

Variant	rs566400399
Chromosome Location	chr8:95556513-95556514
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	chr8:95556247-95556538	MCF-7	breast:	n/a	chr8:95556327-95556336 chr8:95556431-95556439 chr8:95556324-95556340
2	GATA3	chr8:95556278-95556547	T-47D	breast:	n/a	chr8:95556327-95556336 chr8:95556431-95556439 chr8:95556324-95556340
3	GATA3	chr8:95555968-95556736	MCF-7	breast:	n/a	chr8:95556327-95556336 chr8:95556431-95556439 chr8:95556324-95556340
4	SIN3AK20	chr8:95555986-95556654	MCF-7	breast:	n/a	n/a
5	GATA3	chr8:95556350-95556586	SH-SY5Y	brain:	n/a	chr8:95556431-95556439
6	GATA3	chr8:95556073-95556697	MCF-7	breast:	n/a	chr8:95556327-95556336 chr8:95556431-95556439 chr8:95556324-95556340
7	SIN3AK20	chr8:95556016-95556754	MCF-7	breast:	n/a	n/a
8	GATA3	chr8:95556302-95556612	MCF-7	breast:	n/a	chr8:95556327-95556336 chr8:95556431-95556439 chr8:95556324-95556340

No.	Distal block	Cell Line	Cell type
1	chr8:95556183..95559262-chr8:95651441..95653267,3	MCF-7	breast:
2	chr8:95429301..95430964-chr8:95556337..95558310,2	MCF-7	breast:
3	chr8:95554974..95557880-chr8:95564950..95566849,3	MCF-7	breast:
4	chr8:95555945..95557652-chr8:95557953..95559866,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1429	TF binding region
ENSG00000212997	TF binding region
ENSG00000261437	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000212997	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:95532800-95558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:95536600-95557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:95536800-95556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:95537000-95557400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr8:95537000-95558600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:95541600-95563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:95541600-95563800	Weak transcription	Stomach Mucosa	stomach
9	chr8:95543200-95563200	Weak transcription	Fetal Brain Male	brain
10	chr8:95543200-95564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:95543200-95564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:95543600-95558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:95543600-95564000	Weak transcription	HSMMtube	muscle
14	chr8:95544400-95558000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:95545200-95564000	Weak transcription	Psoas Muscle	Psoas
16	chr8:95546200-95564800	Weak transcription	Esophagus	oesophagus
17	chr8:95546400-95564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:95546400-95564000	Weak transcription	Aorta	Aorta
19	chr8:95546600-95563600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:95546800-95558400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:95546800-95563600	Weak transcription	Brain Angular Gyrus	brain
22	chr8:95547000-95563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:95547000-95564000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:95547000-95565000	Weak transcription	Pancreas	Pancrea
25	chr8:95547200-95563200	Weak transcription	Gastric	stomach
26	chr8:95547400-95563200	Weak transcription	Brain Substantia Nigra	brain
27	chr8:95547400-95563600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:95548000-95563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:95548400-95563800	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:95548400-95563800	Weak transcription	Small Intestine	intestine
31	chr8:95548800-95564000	Weak transcription	Colonic Mucosa	Colon
32	chr8:95549000-95558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:95549000-95563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:95549000-95563800	Weak transcription	HUVEC	blood vessel
35	chr8:95549000-95564000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:95549000-95564000	Weak transcription	Brain Germinal Matrix	brain
37	chr8:95549400-95561800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:95549400-95563200	Weak transcription	Ovary	ovary
39	chr8:95549400-95563400	Weak transcription	NHDF-Ad	bronchial
40	chr8:95549400-95564000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:95549600-95563800	Weak transcription	Brain Anterior Caudate	brain
42	chr8:95550000-95563600	Weak transcription	NH-A	brain
43	chr8:95550400-95563200	Weak transcription	Fetal Brain Female	brain
44	chr8:95550600-95564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:95550600-95564400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:95551600-95564800	Weak transcription	Thymus	Thymus
47	chr8:95552000-95563600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:95552200-95561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:95552200-95561000	Weak transcription	Left Ventricle	heart
50	chr8:95552200-95561200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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