Variant report

Variant	rs73279765
Chromosome Location	chr8:100015132-100015133
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100009588..100012990-chr8:100013654..100017766,5	K562	blood:
2	chr8:100013186..100018258-chr8:100022769..100026424,8	MCF-7	breast:
3	chr8:100011207..100013044-chr8:100013955..100016177,3	K562	blood:
4	chr8:99956762..99958304-chr8:100013613..100016438,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS13B-1	chr8:100014060-100015451	NONHSAT127942

Variant related genes	Relation type
ENSG00000132549	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000263842	Chromatin interaction
ENSG00000253948	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73279734	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv967620	chr8:100013130-100021334	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99987200-100024200	Weak transcription	Osteobl	bone
2	chr8:100003400-100023400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100006600-100024000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:100007000-100023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:100007000-100024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:100007200-100016000	Weak transcription	HSMMtube	muscle
7	chr8:100007200-100023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:100007200-100023600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:100007200-100024000	Weak transcription	Ovary	ovary
10	chr8:100007200-100024400	Weak transcription	Aorta	Aorta
11	chr8:100007400-100015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:100007800-100018200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:100008200-100018000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:100008600-100021800	Weak transcription	NHDF-Ad	bronchial
15	chr8:100008600-100024000	Weak transcription	NHLF	lung
16	chr8:100008800-100022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:100012000-100023000	Weak transcription	Liver	Liver
18	chr8:100012000-100023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:100012200-100023800	Weak transcription	HSMM	muscle
20	chr8:100012400-100023400	Weak transcription	Fetal Lung	lung
21	chr8:100013600-100017200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:100014200-100015200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:100014200-100015200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr8:100014200-100015400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:100014200-100015400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:100014200-100015400	Enhancers	Fetal Heart	heart
27	chr8:100014200-100015600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:100014200-100016000	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:100014200-100016200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:100014200-100017400	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:100014200-100023000	Weak transcription	Primary B cells from cord blood	blood
32	chr8:100014400-100015200	Enhancers	Primary T cells from cord blood	blood
33	chr8:100014400-100015200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr8:100014400-100015200	Enhancers	Pancreas	Pancrea
35	chr8:100014400-100015200	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:100014400-100015400	Enhancers	Thymus	Thymus
37	chr8:100014400-100015600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:100014400-100024200	Weak transcription	Small Intestine	intestine
39	chr8:100014600-100015200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:100014600-100015200	Enhancers	Fetal Thymus	thymus
41	chr8:100014600-100015200	Enhancers	Lung	lung
42	chr8:100014600-100016800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr8:100014600-100016800	Weak transcription	Fetal Intestine Small	intestine
44	chr8:100014600-100016800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:100014600-100017400	Weak transcription	Fetal Stomach	stomach
46	chr8:100014800-100015200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:100014800-100015200	Enhancers	Duodenum Mucosa	Duodenum
48	chr8:100014800-100015200	Enhancers	Right Atrium	heart
49	chr8:100014800-100015200	Enhancers	Right Ventricle	heart
50	chr8:100014800-100015200	Enhancers	Spleen	Spleen

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