Variant report

Variant	rs530949146
Chromosome Location	chr8:100444839-100444840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100433911..100436132-chr8:100443954..100446728,2	MCF-7	breast:
2	chr8:100444521..100447261-chr8:100451811..100454572,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv933677	chr8:100254133-100455039	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv831407	chr8:100284406-100448725	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv529685	chr8:100290888-100463947	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
15	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
17	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1015966	chr8:100387076-100481107	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
20	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
21	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
23	nsv933504	chr8:100443818-100493791	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100393600-100445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:100397800-100445000	Weak transcription	HSMM	muscle
3	chr8:100399800-100445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
5	chr8:100416200-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:100419600-100463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:100421000-100448400	Weak transcription	NH-A	brain
8	chr8:100421600-100472800	Weak transcription	Aorta	Aorta
9	chr8:100426000-100466200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:100427400-100445000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:100428400-100445000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:100428600-100456400	Weak transcription	Fetal Stomach	stomach
13	chr8:100428600-100466600	Weak transcription	Spleen	Spleen
14	chr8:100429000-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:100429400-100445200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:100430400-100445200	Weak transcription	HSMMtube	muscle
17	chr8:100431400-100445200	Weak transcription	Ovary	ovary
18	chr8:100434400-100445200	Weak transcription	Left Ventricle	heart
19	chr8:100435600-100445000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:100440600-100445200	Weak transcription	NHLF	lung
21	chr8:100440600-100448400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:100442000-100445000	Weak transcription	Fetal Kidney	kidney
23	chr8:100442000-100445200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:100442200-100445800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr8:100442400-100445200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:100443400-100445000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:100443400-100445200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:100443400-100445200	Weak transcription	Fetal Intestine Small	intestine
29	chr8:100443400-100447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:100443600-100445800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:100443800-100445000	Weak transcription	Osteobl	bone
32	chr8:100443800-100447200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:100443800-100447400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:100443800-100493800	Weak transcription	Pancreas	Pancrea
35	chr8:100444000-100445000	Weak transcription	A549	lung
36	chr8:100444000-100459000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:100444200-100445600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr8:100444400-100445200	Strong transcription	Primary B cells from cord blood	blood
39	chr8:100444400-100445200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:100444400-100445400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:100444400-100445600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:100444400-100445600	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr8:100444400-100445600	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr8:100444400-100445600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr8:100444400-100445800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr8:100444400-100445800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr8:100444400-100445800	ZNF genes & repeats	Liver	Liver
48	chr8:100444400-100445800	ZNF genes & repeats	NHDF-Ad	bronchial
49	chr8:100444400-100446000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr8:100444400-100446600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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