Variant report

Variant	rs28403378
Chromosome Location	chr8:48177106-48177107
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	chr8:48172011..48175371-chr8:48175575..48179063,4	K562	blood:
2	chr8:48170564..48176708-chr8:48177102..48184865,12	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10092312	0.82[AFR][1000 genomes]
rs10099084	0.80[AFR][1000 genomes]
rs10101059	0.80[AFR][1000 genomes]
rs10110990	0.88[AFR][1000 genomes]
rs28382309	0.84[AFR][1000 genomes]
rs28393034	0.90[AFR][1000 genomes]
rs28475848	0.86[AFR][1000 genomes]
rs28499454	0.80[AFR][1000 genomes]
rs28516473	0.86[AFR][1000 genomes]
rs28523467	0.88[AFR][1000 genomes]
rs28631595	0.88[AFR][1000 genomes]
rs28700053	0.92[AFR][1000 genomes]
rs28704586	0.86[AFR][1000 genomes]
rs28713743	0.86[AFR][1000 genomes]
rs28857230	0.82[AFR][1000 genomes]
rs59944663	0.88[AFR][1000 genomes]
rs73676120	0.82[AFR][1000 genomes]
rs73676125	0.82[AFR][1000 genomes]
rs73676311	0.88[AFR][1000 genomes]
rs73676316	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS 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
5	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
6	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
7	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
8	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	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
10	nsv1023786	chr8:48163412-48235252	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1031331	chr8:48163412-48239160	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48174200-48188400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:48174200-48198400	Weak transcription	Spleen	Spleen
3	chr8:48174200-48199000	Weak transcription	Esophagus	oesophagus
4	chr8:48174200-48203800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:48174400-48177800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:48174400-48192000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:48174400-48197400	Weak transcription	Right Atrium	heart
8	chr8:48174600-48178200	Weak transcription	Fetal Stomach	stomach
9	chr8:48174600-48178800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:48174600-48193200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:48174600-48193400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:48174600-48195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:48174600-48198200	Weak transcription	Liver	Liver
14	chr8:48174800-48177200	Enhancers	K562	blood
15	chr8:48174800-48180600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:48174800-48182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:48174800-48182600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:48174800-48183800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:48174800-48188800	Weak transcription	HSMM	muscle
20	chr8:48174800-48197200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:48174800-48198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:48175000-48182600	Weak transcription	Primary B cells from cord blood	blood
23	chr8:48175000-48190600	Weak transcription	HMEC	breast
24	chr8:48175200-48178600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:48175200-48179000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:48175200-48179600	Weak transcription	NHEK	skin
27	chr8:48175200-48182600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:48175200-48182600	Weak transcription	A549	lung
29	chr8:48175200-48189200	Weak transcription	HSMMtube	muscle
30	chr8:48175200-48191800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:48175200-48193400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:48175200-48197000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:48175200-48197800	Weak transcription	Hela-S3	cervix
34	chr8:48175200-48198800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:48175400-48177800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:48175400-48180000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:48175400-48180000	Weak transcription	NHDF-Ad	bronchial
38	chr8:48175400-48182400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:48175400-48182800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:48175400-48188400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:48175400-48189200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:48175400-48193000	Weak transcription	Left Ventricle	heart
43	chr8:48175400-48193400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:48175400-48193600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:48175400-48203600	Weak transcription	NHLF	lung
46	chr8:48175600-48181200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:48176000-48191800	Weak transcription	Dnd41	blood
48	chr8:48176400-48177400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:48176600-48177200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr8:48176800-48177200	Enhancers	GM12878-XiMat	blood

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