Variant report

Variant	rs16899653
Chromosome Location	chr8:125532172-125532173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125530085..125533438-chr8:125536669..125540173,3	K562	blood:
2	chr8:125528338..125530863-chr8:125530890..125534338,3	MCF-7	breast:
3	chr8:125527125..125529992-chr8:125530157..125532714,5	MCF-7	breast:
4	chr8:125531889..125533447-chr8:125538900..125540598,2	K562	blood:
5	chr8:125485539..125488439-chr8:125531952..125535064,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11542673	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986208	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16899649	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829038	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4128469	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4132855	0.82[JPT][hapmap]
rs4301437	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4870899	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4870902	0.96[EUR][1000 genomes]
rs4871493	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4871496	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871497	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55759812	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55872747	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55946925	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56158167	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56291877	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67764028	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713064	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713066	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713068	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713072	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713074	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713078	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713081	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713082	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713090	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72713094	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713101	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714703	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714704	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714706	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714707	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714712	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7812363	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers 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 miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125541200	Weak transcription	Gastric	stomach
3	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
4	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
8	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
10	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
11	chr8:125501600-125535000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
14	chr8:125505800-125538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:125506000-125538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:125508400-125532200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:125510200-125536800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:125510400-125536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:125510800-125532200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:125511600-125536400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:125512000-125536000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:125512400-125535800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:125512400-125536400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:125512600-125533800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:125512600-125535600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr8:125512800-125532200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:125512800-125535600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:125513200-125532400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:125513200-125535800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:125515600-125532200	Strong transcription	Primary T cells from cord blood	blood
31	chr8:125516200-125537200	Weak transcription	Lung	lung
32	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
33	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:125518400-125533800	Strong transcription	Adipose Nuclei	Adipose
37	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:125521600-125535000	Weak transcription	Brain Angular Gyrus	brain
40	chr8:125521800-125535400	Weak transcription	Brain Anterior Caudate	brain
41	chr8:125522800-125532200	Strong transcription	Liver	Liver
42	chr8:125523000-125536800	Weak transcription	Stomach Mucosa	stomach
43	chr8:125523600-125532800	Strong transcription	Osteobl	bone
44	chr8:125524800-125532200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:125525200-125535000	Weak transcription	Brain Substantia Nigra	brain
46	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
47	chr8:125525400-125535800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:125525400-125536200	Weak transcription	Ovary	ovary
49	chr8:125526600-125535000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:125526600-125536800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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