Variant report

Variant	rs16899959
Chromosome Location	chr8:125689995-125689996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125687873..125690261-chr8:125731665..125733961,2	MCF-7	breast:
2	chr8:125688216..125690595-chr8:125693629..125695701,2	MCF-7	breast:
3	chr8:125687986..125690469-chr8:125810127..125812485,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13260195	0.86[ASN][1000 genomes]
rs13279330	1.00[YRI][hapmap]
rs13279648	0.88[ASN][1000 genomes]
rs16893083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34410151	1.00[YRI][hapmap]
rs35566676	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71516753	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71516754	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125681200-125701000	Weak transcription	HMEC	breast
4	chr8:125685800-125694600	Weak transcription	Gastric	stomach
5	chr8:125686200-125691000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:125686200-125691000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:125686200-125693000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:125686200-125694400	Weak transcription	Pancreas	Pancrea
9	chr8:125686200-125694600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:125686200-125695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:125686200-125695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:125686200-125696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:125686200-125697600	Weak transcription	HUVEC	blood vessel
14	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:125686400-125691000	Weak transcription	HSMMtube	muscle
16	chr8:125686400-125692400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:125686400-125694400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:125686400-125694400	Weak transcription	Esophagus	oesophagus
19	chr8:125686400-125694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:125686400-125698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:125686400-125698400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:125686400-125699400	Weak transcription	Primary T cells from cord blood	blood
23	chr8:125686800-125692600	Weak transcription	Placenta	Placenta
24	chr8:125686800-125692800	Weak transcription	Adipose Nuclei	Adipose
25	chr8:125686800-125694200	Weak transcription	Fetal Brain Female	brain
26	chr8:125686800-125694400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:125686800-125694600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:125686800-125699600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:125687000-125694400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:125687400-125694400	Weak transcription	Lung	lung
31	chr8:125687600-125690800	Weak transcription	Left Ventricle	heart
32	chr8:125687600-125694400	Weak transcription	Fetal Thymus	thymus
33	chr8:125687600-125699200	Weak transcription	Fetal Intestine Small	intestine
34	chr8:125687800-125694600	Weak transcription	Spleen	Spleen
35	chr8:125688000-125690000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr8:125688000-125690800	Weak transcription	Right Atrium	heart
37	chr8:125688200-125690000	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:125688200-125699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:125688600-125690000	Enhancers	Stomach Smooth Muscle	stomach
40	chr8:125688600-125690600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr8:125688600-125691000	Enhancers	HepG2	liver
42	chr8:125688600-125692000	Enhancers	Psoas Muscle	Psoas
43	chr8:125688600-125692200	Enhancers	Fetal Heart	heart
44	chr8:125688800-125690000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:125688800-125690000	Enhancers	Brain Hippocampus Middle	brain
46	chr8:125688800-125690000	Enhancers	Brain Substantia Nigra	brain
47	chr8:125688800-125690400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:125688800-125690400	Enhancers	Brain Angular Gyrus	brain
49	chr8:125688800-125690400	Enhancers	Brain Cingulate Gyrus	brain
50	chr8:125689000-125690400	Enhancers	Brain Germinal Matrix	brain

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