Variant report

Variant	rs8178185
Chromosome Location	chr8:48743908-48743909
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48736626..48739950-chr8:48740537..48745095,4	K562	blood:
2	chr8:48742916..48747656-chr8:48751966..48755399,6	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10093943	0.87[AFR][1000 genomes]
rs10093950	0.81[AFR][1000 genomes]
rs10095249	0.87[AFR][1000 genomes]
rs10097429	0.87[AFR][1000 genomes]
rs10099656	0.81[AFR][1000 genomes]
rs10106803	0.85[AFR][1000 genomes]
rs10108990	0.87[AFR][1000 genomes]
rs10111963	0.81[AFR][1000 genomes]
rs11987727	0.81[AFR][1000 genomes]
rs11987748	0.87[AFR][1000 genomes]
rs11997023	0.85[AFR][1000 genomes]
rs11998483	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17287711	0.85[AFR][1000 genomes]
rs28366397	0.81[AFR][1000 genomes]
rs28439682	0.81[AFR][1000 genomes]
rs28488251	0.87[AFR][1000 genomes]
rs28542480	0.87[AFR][1000 genomes]
rs28583978	0.83[AFR][1000 genomes]
rs28603312	0.85[AFR][1000 genomes]
rs28683713	0.83[AFR][1000 genomes]
rs28701667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28719542	0.85[AFR][1000 genomes]
rs28751111	0.87[AFR][1000 genomes]
rs28812773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35590911	0.87[AFR][1000 genomes]
rs6473874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6980675	0.85[AFR][1000 genomes]
rs6982040	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984595	0.85[AFR][1000 genomes]
rs7002719	0.85[AFR][1000 genomes]
rs7010172	0.87[AFR][1000 genomes]
rs73677550	0.87[AFR][1000 genomes]
rs7819424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823419	0.81[AFR][1000 genomes]
rs7839604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841307	0.85[AFR][1000 genomes]
rs8178024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178037	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178253	0.85[AFR][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	chr8:48704800-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:48722200-48778600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:48724800-48755800	Strong transcription	Hela-S3	cervix
13	chr8:48726000-48744800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:48726000-48756800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:48726000-48778800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr8:48726200-48747200	Strong transcription	Liver	Liver
17	chr8:48726200-48755800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:48726200-48756400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:48726200-48760800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:48726400-48759800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:48726400-48783200	Strong transcription	GM12878-XiMat	blood
23	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:48727400-48777600	Strong transcription	Primary T cells from cord blood	blood
25	chr8:48727600-48756000	Strong transcription	NH-A	brain
26	chr8:48727600-48758600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:48727800-48757600	Strong transcription	K562	blood
28	chr8:48728000-48757400	Strong transcription	Osteobl	bone
29	chr8:48729000-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:48729000-48759400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:48729000-48760200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:48731200-48756000	Strong transcription	Fetal Muscle Leg	muscle
34	chr8:48731200-48757200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr8:48731400-48750000	Strong transcription	Fetal Brain Female	brain
36	chr8:48731600-48750000	Strong transcription	Primary B cells from cord blood	blood
37	chr8:48733400-48759000	Strong transcription	HepG2	liver
38	chr8:48734000-48750000	Strong transcription	Fetal Lung	lung
39	chr8:48736800-48745600	Weak transcription	Fetal Brain Male	brain
40	chr8:48737600-48755600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:48738200-48757000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:48738800-48747200	Strong transcription	HUVEC	blood vessel
44	chr8:48738800-48759200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:48738800-48777800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:48739000-48747400	Strong transcription	Rectal Smooth Muscle	rectum
47	chr8:48739000-48752600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:48739000-48754400	Strong transcription	HMEC	breast
49	chr8:48739200-48746200	Strong transcription	Brain Anterior Caudate	brain
50	chr8:48739200-48746800	Strong transcription	Small Intestine	intestine

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