Variant report

Variant	rs528187429
Chromosome Location	chr8:48289954-48289955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48289062..48291222-chr8:48292317..48294318,2	K562	blood:
2	chr8:48288492..48291157-chr8:48291634..48296219,4	MCF-7	breast:
3	chr8:48264421..48266947-chr8:48288790..48290307,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1018457	chr8:48289643-48321308	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
2	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
3	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:48266800-48290200	Weak transcription	HSMMtube	muscle
6	chr8:48266800-48297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:48267000-48295400	Weak transcription	HSMM	muscle
8	chr8:48267800-48295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:48278800-48309000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:48279000-48291800	Weak transcription	Esophagus	oesophagus
11	chr8:48279000-48299600	Weak transcription	Spleen	Spleen
12	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:48279200-48290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
15	chr8:48281600-48291600	Weak transcription	Fetal Thymus	thymus
16	chr8:48282200-48290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:48282200-48301200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:48282200-48311200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:48282200-48312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:48282400-48290000	Weak transcription	NHEK	skin
21	chr8:48282400-48291400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:48282400-48300200	Weak transcription	Primary T cells from cord blood	blood
23	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:48282600-48290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:48282800-48290000	Weak transcription	HMEC	breast
26	chr8:48282800-48292800	Weak transcription	Psoas Muscle	Psoas
27	chr8:48282800-48299800	Weak transcription	Dnd41	blood
28	chr8:48283600-48297200	Weak transcription	Right Atrium	heart
29	chr8:48283800-48300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:48284000-48290200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:48284000-48291600	Weak transcription	Lung	lung
32	chr8:48284000-48300400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:48284200-48290000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:48284200-48300200	Weak transcription	Primary B cells from cord blood	blood
35	chr8:48284200-48301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:48284600-48290000	Weak transcription	Hela-S3	cervix
37	chr8:48284600-48296600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:48288200-48290800	Enhancers	HepG2	liver
39	chr8:48288400-48292600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr8:48288600-48290800	Enhancers	Liver	Liver
41	chr8:48288600-48294400	Enhancers	Fetal Lung	lung
42	chr8:48288600-48296600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:48288600-48296800	Enhancers	Stomach Mucosa	stomach
44	chr8:48288800-48290000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:48288800-48290400	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:48288800-48290600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:48288800-48294400	Enhancers	Fetal Intestine Small	intestine
48	chr8:48289000-48290000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:48289000-48294000	Weak transcription	Gastric	stomach
50	chr8:48289000-48295600	Weak transcription	Fetal Muscle Leg	muscle

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