Variant report

Variant	rs377382849
Chromosome Location	chr8:95559894-95559895
allele	-/A
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	SPI1	chr8:95559509-95559960	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95557664..95559966-chr8:95650412..95652511,2	MCF-7	breast:
2	chr8:95558228..95561115-chr8:95906355..95909204,2	K562	blood:

Variant related genes	Relation type
KIAA1429	TF binding region
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000261437	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv3480548	chr8:95558043-95561065	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
16	esv3480549	chr8:95558043-95561065	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
17	esv13932	chr8:95558324-95561351	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
18	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

No data

Chromatin state (count:122 , 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	chr8:95541600-95563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95541600-95563800	Weak transcription	Stomach Mucosa	stomach
4	chr8:95543200-95563200	Weak transcription	Fetal Brain Male	brain
5	chr8:95543200-95564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:95543200-95564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:95543600-95564000	Weak transcription	HSMMtube	muscle
8	chr8:95545200-95564000	Weak transcription	Psoas Muscle	Psoas
9	chr8:95546200-95564800	Weak transcription	Esophagus	oesophagus
10	chr8:95546400-95564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:95546400-95564000	Weak transcription	Aorta	Aorta
12	chr8:95546600-95563600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:95546800-95563600	Weak transcription	Brain Angular Gyrus	brain
14	chr8:95547000-95563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:95547000-95564000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:95547000-95565000	Weak transcription	Pancreas	Pancrea
17	chr8:95547200-95563200	Weak transcription	Gastric	stomach
18	chr8:95547400-95563200	Weak transcription	Brain Substantia Nigra	brain
19	chr8:95547400-95563600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:95548000-95563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:95548400-95563800	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:95548400-95563800	Weak transcription	Small Intestine	intestine
23	chr8:95548800-95564000	Weak transcription	Colonic Mucosa	Colon
24	chr8:95549000-95563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:95549000-95563800	Weak transcription	HUVEC	blood vessel
26	chr8:95549000-95564000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:95549000-95564000	Weak transcription	Brain Germinal Matrix	brain
28	chr8:95549400-95561800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:95549400-95563200	Weak transcription	Ovary	ovary
30	chr8:95549400-95563400	Weak transcription	NHDF-Ad	bronchial
31	chr8:95549400-95564000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:95549600-95563800	Weak transcription	Brain Anterior Caudate	brain
33	chr8:95550000-95563600	Weak transcription	NH-A	brain
34	chr8:95550400-95563200	Weak transcription	Fetal Brain Female	brain
35	chr8:95550600-95564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:95550600-95564400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:95551600-95564800	Weak transcription	Thymus	Thymus
38	chr8:95552000-95563600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:95552200-95561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:95552200-95561000	Weak transcription	Left Ventricle	heart
41	chr8:95552200-95561200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:95552200-95562000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:95552200-95563000	Weak transcription	Right Ventricle	heart
44	chr8:95552200-95563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:95552200-95563600	Weak transcription	NHLF	lung
46	chr8:95552200-95563800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:95552200-95565000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:95552400-95561200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:95552400-95561200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:95552400-95563800	Weak transcription	Osteobl	bone

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