Variant report

Variant	rs4873706
Chromosome Location	chr8:48735229-48735230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48734082..48735930-chr8:48739843..48741704,2	K562	blood:
2	chr8:48730935..48735582-chr8:48738705..48743667,5	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2171854	1.00[EUR][1000 genomes]
rs3829985	0.80[AMR][1000 genomes]
rs4873390	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4873672	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473879	1.00[AFR][1000 genomes]
rs8178107	1.00[AFR][1000 genomes]
rs8178142	1.00[AFR][1000 genomes]
rs8178148	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8178215	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:48684400-48861600	Strong transcription	Dnd41	blood
4	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
5	chr8:48693800-48751000	Weak transcription	Right Atrium	heart
6	chr8:48700000-48758800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr8:48703000-48761800	Weak transcription	Stomach Mucosa	stomach
8	chr8:48704200-48737400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:48704800-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:48711200-48741400	Weak transcription	Fetal Heart	heart
11	chr8:48711400-48740200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:48722200-48778600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:48724800-48755800	Strong transcription	Hela-S3	cervix
16	chr8:48725800-48735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:48726000-48737600	Strong transcription	Placenta	Placenta
18	chr8:48726000-48739200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:48726000-48744800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:48726000-48756800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr8:48726000-48778800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:48726200-48735600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:48726200-48737400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:48726200-48738000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:48726200-48738200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:48726200-48738200	Strong transcription	A549	lung
27	chr8:48726200-48739200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:48726200-48747200	Strong transcription	Liver	Liver
29	chr8:48726200-48755800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:48726200-48756400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr8:48726200-48760800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:48726400-48736400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:48726400-48737600	Strong transcription	HUVEC	blood vessel
35	chr8:48726400-48738200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:48726400-48738800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:48726400-48739000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr8:48726400-48739200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:48726400-48759800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:48726400-48783200	Strong transcription	GM12878-XiMat	blood
41	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:48727000-48736600	Strong transcription	Adipose Nuclei	Adipose
43	chr8:48727400-48736600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr8:48727400-48737800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:48727400-48741600	Strong transcription	Fetal Stomach	stomach
46	chr8:48727400-48777600	Strong transcription	Primary T cells from cord blood	blood
47	chr8:48727600-48756000	Strong transcription	NH-A	brain
48	chr8:48727600-48758600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:48727800-48757600	Strong transcription	K562	blood
50	chr8:48728000-48757400	Strong transcription	Osteobl	bone

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