Variant report

Variant	rs67712332
Chromosome Location	chr8:105526950-105526951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105524828..105527045-chr8:105784519..105787055,2	K562	blood:
2	chr8:105523437..105529379-chr8:105769112..105773532,5	K562	blood:
3	chr8:105525717..105528033-chr8:105529254..105531863,3	K562	blood:
4	chr8:105525658..105529400-chr8:105771015..105773532,3	K562	blood:
5	chr8:105525948..105528656-chr8:105538770..105541128,2	K562	blood:
6	chr8:105524219..105529091-chr8:105598970..105603591,5	K562	blood:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10955352	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777528	0.96[AFR][1000 genomes]
rs11781863	0.85[AFR][1000 genomes]
rs11782865	0.85[ASN][1000 genomes]
rs11782889	0.85[AFR][1000 genomes]
rs11989936	0.92[AFR][1000 genomes]
rs11995774	0.85[ASN][1000 genomes]
rs11996303	0.84[AFR][1000 genomes]
rs12678962	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680250	0.85[ASN][1000 genomes]
rs12681898	0.84[AFR][1000 genomes]
rs13259268	0.90[AFR][1000 genomes]
rs13266321	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268597	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16871500	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16871634	0.85[ASN][1000 genomes]
rs2028244	0.85[ASN][1000 genomes]
rs28481880	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3018438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34255383	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35328383	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35465370	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35649342	0.85[AFR][1000 genomes]
rs4236775	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4263729	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338071	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734803	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59294667	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468939	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6993149	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7010576	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71520892	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7465442	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815871	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7823671	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834086	0.86[AFR][1000 genomes]
rs7841202	0.85[ASN][1000 genomes]
rs7842204	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7845137	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9694676	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
3	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
4	chr8:105510200-105546200	Weak transcription	HMEC	breast
5	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
6	chr8:105510800-105531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:105511000-105527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:105511000-105529800	Weak transcription	Fetal Lung	lung
9	chr8:105511800-105527000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:105511800-105532600	Weak transcription	HSMM	muscle
11	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:105514800-105529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:105515200-105542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:105517600-105527000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:105519800-105534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:105520200-105528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:105520400-105534800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:105520600-105537400	Weak transcription	NH-A	brain
21	chr8:105520800-105536600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:105521000-105540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:105521400-105540000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:105525200-105527200	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:105525200-105527400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:105525200-105527400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:105525200-105527400	Enhancers	K562	blood
29	chr8:105525200-105528000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:105525200-105528600	Enhancers	Dnd41	blood
31	chr8:105525400-105527000	Weak transcription	Osteobl	bone
32	chr8:105525400-105527400	Enhancers	Primary T cells from cord blood	blood
33	chr8:105525400-105531200	Weak transcription	Brain Anterior Caudate	brain
34	chr8:105525600-105527200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:105525800-105527400	Enhancers	HUVEC	blood vessel
36	chr8:105526000-105527000	Weak transcription	GM12878-XiMat	blood
37	chr8:105526000-105529400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:105526400-105530600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:105526400-105531000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:105526400-105531000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:105526400-105531000	Weak transcription	Thymus	Thymus
42	chr8:105526400-105531200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:105526400-105531400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:105526600-105527200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:105526800-105531200	Weak transcription	Fetal Thymus	thymus

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