Variant report

Variant	rs8178176
Chromosome Location	chr8:48752082-48752083
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	chr8:48742916..48747656-chr8:48751966..48755399,6	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10093943	0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs10095249	0.85[AFR][1000 genomes]
rs10097429	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10102782	0.86[YRI][hapmap]
rs10104074	0.86[YRI][hapmap]
rs10106803	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs10108990	0.85[AFR][1000 genomes]
rs11987748	0.85[AFR][1000 genomes]
rs11997023	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs11998483	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17287711	0.83[AFR][1000 genomes]
rs28488251	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs28542480	0.85[AFR][1000 genomes]
rs28583978	0.81[AFR][1000 genomes]
rs28603312	0.83[AFR][1000 genomes]
rs28683713	0.81[AFR][1000 genomes]
rs28701667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28719542	1.00[LWK][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs28751111	0.85[AFR][1000 genomes]
rs28812773	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35590911	0.85[AFR][1000 genomes]
rs6473874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6980675	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs6982040	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982203	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984595	0.83[AFR][1000 genomes]
rs7002719	1.00[LWK][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs7010172	0.85[AFR][1000 genomes]
rs73677550	0.85[AFR][1000 genomes]
rs7819424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7839604	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841307	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs8177999	1.00[YRI][hapmap]
rs8178024	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178037	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178117	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178240	0.86[YRI][hapmap]
rs8178253	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr8:48700000-48758800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr8:48703000-48761800	Weak transcription	Stomach Mucosa	stomach
7	chr8:48704800-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:48722200-48778600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:48724800-48755800	Strong transcription	Hela-S3	cervix
12	chr8:48726000-48756800	Strong transcription	Duodenum Mucosa	Duodenum
13	chr8:48726000-48778800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:48726200-48755800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:48726200-48756400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr8:48726200-48760800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:48726400-48759800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:48726400-48783200	Strong transcription	GM12878-XiMat	blood
20	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:48727400-48777600	Strong transcription	Primary T cells from cord blood	blood
22	chr8:48727600-48756000	Strong transcription	NH-A	brain
23	chr8:48727600-48758600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:48727800-48757600	Strong transcription	K562	blood
25	chr8:48728000-48757400	Strong transcription	Osteobl	bone
26	chr8:48729000-48756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:48729000-48759400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:48729000-48760200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:48731200-48756000	Strong transcription	Fetal Muscle Leg	muscle
31	chr8:48731200-48757200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr8:48733400-48759000	Strong transcription	HepG2	liver
33	chr8:48737600-48755600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:48738200-48757000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:48738800-48759200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:48738800-48777800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:48739000-48752600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:48739000-48754400	Strong transcription	HMEC	breast
40	chr8:48739400-48752800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:48739400-48756000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:48739600-48756000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr8:48739600-48757200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:48739600-48778400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:48739600-48783200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:48739600-48793400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:48739600-48799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:48739800-48779200	Strong transcription	Adipose Nuclei	Adipose

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