Variant report

Variant	rs16904172
Chromosome Location	chr8:130924566-130924567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130912812..130915436-chr8:130923163..130924883,2	MCF-7	breast:
2	chr8:130924171..130926476-chr8:131049925..131052466,2	K562	blood:
3	chr8:130920727..130922896-chr8:130924444..130927527,3	K562	blood:
4	chr8:130921182..130922896-chr8:130924381..130926057,2	K562	blood:
5	chr8:130921210..130924992-chr8:130930808..130933056,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16904165	1.00[EUR][1000 genomes]
rs16904167	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16904174	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs16904177	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60106676	1.00[EUR][1000 genomes]
rs6991626	1.00[EUR][1000 genomes]
rs6991867	1.00[EUR][1000 genomes]
rs7008330	1.00[EUR][1000 genomes]
rs73710949	0.81[AMR][1000 genomes]
rs73710951	0.81[AMR][1000 genomes]
rs73710959	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73710960	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73710967	1.00[EUR][1000 genomes]
rs73710970	0.81[AMR][1000 genomes]
rs73710971	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824719	1.00[TSI][hapmap]
rs7824740	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv521998	chr8:130921162-130932427	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:130900000-130925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:130901000-130924600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:130901000-130924600	Weak transcription	K562	blood
8	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
11	chr8:130904000-130950600	Weak transcription	HSMM	muscle
12	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:130907000-130928600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:130907800-130929000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:130909400-130924800	Weak transcription	NHEK	skin
17	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:130912800-130925800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:130913200-130924600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
21	chr8:130913600-130929400	Weak transcription	Primary T cells from cord blood	blood
22	chr8:130913800-130925000	Weak transcription	Thymus	Thymus
23	chr8:130914000-130926400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:130914400-130925600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:130917000-130927400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:130917400-130928400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
29	chr8:130917800-130926400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:130918000-130949400	Weak transcription	GM12878-XiMat	blood
31	chr8:130922400-130930200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:130922400-130933400	Weak transcription	Primary B cells from cord blood	blood
33	chr8:130922400-130936400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:130922600-130924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:130922600-130928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:130922600-130929400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:130922800-130927000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:130923000-130924600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:130923000-130925800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:130923000-130925800	Weak transcription	Adipose Nuclei	Adipose
42	chr8:130923000-130926000	Enhancers	A549	lung
43	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
44	chr8:130923200-130925200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:130923200-130925200	Weak transcription	Psoas Muscle	Psoas
46	chr8:130923200-130925800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:130923200-130937000	Weak transcription	Left Ventricle	heart
48	chr8:130923200-130941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:130923400-130925200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr8:130923400-130926800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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