Variant report

Variant	rs542084435
Chromosome Location	chr8:48307956-48307957
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	chr8:48305764..48309024-chr8:53624660..53627223,3	K562	blood:

Variant related genes	Relation type
ENSG00000023287	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 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	chr8:48278800-48309000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
6	chr8:48282200-48311200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:48282200-48312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:48290400-48311400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:48290800-48322200	Weak transcription	Liver	Liver
11	chr8:48290800-48347400	Weak transcription	HepG2	liver
12	chr8:48291400-48310000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:48291800-48309600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:48292000-48310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:48293000-48312600	Weak transcription	Fetal Thymus	thymus
16	chr8:48293200-48315000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:48294400-48309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:48294400-48309600	Weak transcription	Fetal Intestine Small	intestine
19	chr8:48294800-48309200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:48295800-48311200	Weak transcription	Lung	lung
21	chr8:48295800-48324400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:48296200-48308000	Weak transcription	NHDF-Ad	bronchial
23	chr8:48296200-48309200	Weak transcription	Fetal Intestine Large	intestine
24	chr8:48296800-48309600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:48297400-48310600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:48297400-48312400	Weak transcription	Left Ventricle	heart
27	chr8:48297600-48309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:48298200-48309000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:48298200-48310200	Weak transcription	A549	lung
30	chr8:48298200-48310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:48298200-48325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:48298400-48309600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:48298400-48310800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:48298400-48316400	Weak transcription	NHLF	lung
35	chr8:48298400-48325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:48298600-48308000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:48298600-48325600	Weak transcription	Osteobl	bone
38	chr8:48298800-48308000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:48299400-48309200	Weak transcription	Fetal Lung	lung
40	chr8:48299400-48309400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:48299600-48331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:48300000-48309600	Weak transcription	Spleen	Spleen
43	chr8:48300000-48311400	Weak transcription	Esophagus	oesophagus
44	chr8:48300000-48312200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:48300000-48318600	Weak transcription	Stomach Mucosa	stomach
46	chr8:48300200-48309600	Weak transcription	Gastric	stomach
47	chr8:48300200-48310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:48300200-48310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:48300200-48311200	Weak transcription	Pancreas	Pancrea
50	chr8:48300200-48311400	Weak transcription	Hela-S3	cervix

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