Variant report

Variant	rs16836868
Chromosome Location	chr1:155511868-155511869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158433	0.88[ASW][hapmap]
rs13375379	0.88[ASW][hapmap];0.91[LWK][hapmap];0.82[MKK][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs16836851	0.85[LWK][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs16836867	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs28491466	0.88[ASW][hapmap];0.82[LWK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs56035547	0.81[AFR][1000 genomes]
rs56770523	0.81[AFR][1000 genomes]
rs57334798	0.81[AFR][1000 genomes]
rs57519519	0.81[AFR][1000 genomes]
rs57644936	0.81[AFR][1000 genomes]
rs57807227	0.83[AFR][1000 genomes]
rs58621120	0.81[AFR][1000 genomes]
rs58850753	0.81[AFR][1000 genomes]
rs59633238	0.81[AFR][1000 genomes]
rs59913551	0.90[AFR][1000 genomes]
rs60219981	0.82[AFR][1000 genomes]
rs60818259	0.81[AFR][1000 genomes]
rs61403978	0.81[AFR][1000 genomes]
rs61631408	0.84[AFR][1000 genomes]
rs6427277	0.82[AFR][1000 genomes]
rs6659913	0.95[YRI][hapmap]
rs6665660	0.88[ASW][hapmap];0.82[LWK][hapmap];0.87[YRI][hapmap]
rs6670530	0.88[LWK][hapmap];0.91[YRI][hapmap]
rs72993428	0.81[AFR][1000 genomes]
rs72993486	0.85[AFR][1000 genomes]
rs72995115	0.84[AFR][1000 genomes]
rs72995165	0.90[AFR][1000 genomes]
rs72995166	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995171	0.82[AFR][1000 genomes]
rs72995173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995177	0.84[AFR][1000 genomes]
rs72997129	0.83[AMR][1000 genomes]
rs73008999	0.81[AFR][1000 genomes]
rs73010906	0.81[AFR][1000 genomes]
rs73010909	0.81[AFR][1000 genomes]
rs73010921	0.83[AFR][1000 genomes]
rs7517139	0.81[AFR][1000 genomes]
rs7517777	0.83[AFR][1000 genomes]
rs9988453	0.88[ASW][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs9988540	0.91[AFR][1000 genomes]

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	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155476400-155518200	Weak transcription	HMEC	breast
2	chr1:155478400-155518200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:155483200-155524400	Weak transcription	Fetal Brain Female	brain
4	chr1:155483400-155528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:155488000-155513400	Weak transcription	Fetal Stomach	stomach
6	chr1:155489800-155516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:155489800-155529400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:155490000-155513000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:155491200-155521800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:155491400-155523400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:155491600-155516200	Weak transcription	NHEK	skin
12	chr1:155493400-155514200	Weak transcription	Gastric	stomach
13	chr1:155496600-155518400	Weak transcription	HSMM	muscle
14	chr1:155496600-155529800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:155497800-155513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:155498000-155513000	Weak transcription	Hela-S3	cervix
17	chr1:155499600-155517000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:155500000-155516400	Weak transcription	NHDF-Ad	bronchial
19	chr1:155500000-155524400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:155500200-155519800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:155501800-155523200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:155502000-155516200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:155502000-155518000	Weak transcription	Brain Anterior Caudate	brain
24	chr1:155502000-155518800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:155503000-155512000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:155503400-155519600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:155503800-155523200	Weak transcription	Fetal Thymus	thymus
28	chr1:155504000-155512000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:155505200-155513000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:155505400-155518200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:155505600-155523400	Weak transcription	Placenta	Placenta
32	chr1:155506200-155513600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:155506400-155523400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:155506400-155529400	Weak transcription	Osteobl	bone
35	chr1:155506400-155529600	Weak transcription	Fetal Lung	lung
36	chr1:155506600-155512000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:155506600-155513600	Weak transcription	Fetal Intestine Large	intestine
38	chr1:155506600-155516800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:155506800-155513400	Weak transcription	Thymus	Thymus
40	chr1:155506800-155518000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:155507000-155530200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:155507400-155528000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:155507800-155512000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:155507800-155513000	Weak transcription	Fetal Intestine Small	intestine
45	chr1:155508600-155512000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:155509200-155512000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:155509200-155512000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:155509400-155512200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:155509400-155512200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:155509600-155517400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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