Variant report

Variant	rs573450236
Chromosome Location	chr8:100026949-100026950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:100026849-100026986	K562	blood:	n/a	n/a
2	RCOR1	chr8:100024586-100027052	K562	blood:	n/a	n/a
3	ZNF384	chr8:100025063-100027080	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
2	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
3	chr8:100025901..100029663-chr8:100033487..100035486,3	K562	blood:
4	chr8:100011149..100013712-chr8:100025594..100027308,2	K562	blood:
5	chr8:100024284..100027084-chr8:100113982..100120280,5	MCF-7	breast:
6	chr8:100025833..100028756-chr8:100100624..100103335,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253948	TF binding region
ENSG00000164920	Chromatin interaction
ENSG00000271930	Chromatin interaction
ENSG00000263842	Chromatin interaction
ENSG00000104375	Chromatin interaction
ENSG00000132549	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	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv3384926	chr8:100026040-100027833	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100023200-100027200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:100023200-100027200	Active TSS	K562	blood
3	chr8:100023600-100027000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:100024000-100027200	Active TSS	NHLF	lung
5	chr8:100024200-100027000	Active TSS	HSMMtube	muscle
6	chr8:100024400-100027000	Active TSS	Ovary	ovary
7	chr8:100024400-100027200	Active TSS	NHDF-Ad	bronchial
8	chr8:100024600-100027000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:100024600-100027000	Active TSS	Fetal Muscle Leg	muscle
10	chr8:100024600-100027200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:100024600-100027200	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:100024800-100027000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:100025000-100027200	Active TSS	Fetal Brain Female	brain
14	chr8:100025600-100027000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:100026000-100027000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:100026000-100027000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:100026200-100027000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr8:100026200-100027000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr8:100026200-100027000	Flanking Active TSS	Dnd41	blood
20	chr8:100026200-100027400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:100026200-100035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:100026200-100036800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:100026200-100044000	Weak transcription	Esophagus	oesophagus
24	chr8:100026200-100047000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:100026200-100047000	Weak transcription	Gastric	stomach
26	chr8:100026200-100047200	Weak transcription	Small Intestine	intestine
27	chr8:100026200-100047600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:100026400-100027000	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:100026400-100027000	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:100026400-100027000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:100026400-100027000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:100026400-100027000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:100026400-100027000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:100026400-100027000	Enhancers	Liver	Liver
35	chr8:100026400-100027000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:100026400-100027000	Enhancers	Fetal Thymus	thymus
37	chr8:100026400-100027000	Enhancers	NHEK	skin
38	chr8:100026400-100027200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:100026400-100027200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:100026400-100027200	Enhancers	Brain Substantia Nigra	brain
41	chr8:100026400-100027200	Enhancers	Fetal Lung	lung
42	chr8:100026400-100027400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:100026400-100027400	Enhancers	Primary B cells from cord blood	blood
44	chr8:100026400-100027400	Enhancers	Primary T cells from cord blood	blood
45	chr8:100026400-100027600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:100026400-100027600	Weak transcription	Fetal Intestine Small	intestine
47	chr8:100026400-100027800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:100026400-100028000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:100026400-100028000	Weak transcription	Fetal Intestine Large	intestine
50	chr8:100026400-100028200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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