Variant report

Variant	rs375675539
Chromosome Location	chr8:48207229-48207230
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	chr8:48202864..48204570-chr8:48206625..48208490,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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
14	esv3431203	chr8:48188989-48211147	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3360188	chr8:48188989-48215097	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3419933	chr8:48188989-48215347	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	esv1801781	chr8:48205935-48221673	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
2	chr8:48189600-48225000	Weak transcription	HUVEC	blood vessel
3	chr8:48191400-48216600	Weak transcription	Colonic Mucosa	Colon
4	chr8:48193600-48210600	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:48196800-48216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:48197600-48210600	Weak transcription	Right Ventricle	heart
7	chr8:48198400-48210000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:48199000-48211400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:48199000-48215000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:48199200-48208400	Weak transcription	Brain Angular Gyrus	brain
11	chr8:48199200-48210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:48199200-48215400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:48199200-48221800	Weak transcription	NHEK	skin
14	chr8:48199200-48227800	Weak transcription	HMEC	breast
15	chr8:48199400-48207600	Weak transcription	Fetal Brain Male	brain
16	chr8:48199600-48209200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:48199600-48210400	Weak transcription	NHDF-Ad	bronchial
18	chr8:48199600-48215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:48200600-48209200	Strong transcription	Dnd41	blood
20	chr8:48200800-48210000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:48201600-48210000	Strong transcription	Fetal Intestine Large	intestine
22	chr8:48201800-48220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:48202000-48209800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:48202200-48209600	Strong transcription	Liver	Liver
25	chr8:48202800-48208400	Strong transcription	Placenta	Placenta
26	chr8:48203000-48209600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:48203000-48210000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr8:48203200-48208800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:48203200-48208800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:48203400-48207400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:48203400-48208200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:48203400-48208600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:48203400-48208600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr8:48203400-48208800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:48203400-48209600	Strong transcription	A549	lung
36	chr8:48203400-48210000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:48203400-48210000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:48203600-48207400	Strong transcription	Aorta	Aorta
39	chr8:48203600-48207400	Strong transcription	Fetal Brain Female	brain
40	chr8:48203600-48207400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:48203600-48207600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr8:48203600-48208600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:48203600-48209800	Strong transcription	Brain Hippocampus Middle	brain
44	chr8:48203600-48210000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:48203600-48210000	Strong transcription	Primary T cells from cord blood	blood
46	chr8:48203600-48210600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:48203800-48207400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:48203800-48207600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:48203800-48207600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:48203800-48208200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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