Variant report

Variant	rs16861916
Chromosome Location	chr1:169085528-169085529
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10919089	1.00[EUR][1000 genomes]
rs12068499	1.00[EUR][1000 genomes]
rs12071302	1.00[EUR][1000 genomes]
rs12077900	1.00[EUR][1000 genomes]
rs12084554	1.00[EUR][1000 genomes]
rs12086569	1.00[EUR][1000 genomes]
rs12088527	1.00[EUR][1000 genomes]
rs61204485	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61255541	0.87[AMR][1000 genomes]
rs6698984	1.00[EUR][1000 genomes]
rs73033742	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73033743	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169079800-169094600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:169079800-169105800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:169080200-169086400	Genic enhancers	Fetal Intestine Small	intestine
4	chr1:169080200-169088800	Genic enhancers	Hela-S3	cervix
5	chr1:169080200-169089800	Genic enhancers	Fetal Intestine Large	intestine
6	chr1:169080800-169086600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:169081000-169098200	Weak transcription	Small Intestine	intestine
8	chr1:169081200-169091800	Strong transcription	Fetal Brain Female	brain
9	chr1:169082000-169086200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:169082200-169097600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:169082400-169086200	Strong transcription	Brain Germinal Matrix	brain
12	chr1:169082400-169097400	Weak transcription	Fetal Thymus	thymus
13	chr1:169083000-169087600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:169083400-169088600	Weak transcription	HSMMtube	muscle
15	chr1:169083400-169090400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:169083600-169094600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:169084000-169086600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:169084000-169088400	Weak transcription	NHDF-Ad	bronchial
19	chr1:169084000-169088800	Weak transcription	Ovary	ovary
20	chr1:169084000-169094000	Weak transcription	Primary T cells from cord blood	blood
21	chr1:169084200-169099200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:169084600-169086800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:169084600-169087800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:169084800-169086200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:169084800-169086600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:169084800-169087000	Enhancers	HMEC	breast
27	chr1:169084800-169089600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:169085000-169085600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:169085000-169085600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:169085000-169085600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:169085000-169085600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:169085000-169085600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:169085000-169085600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:169085000-169085600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:169085000-169085600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:169085000-169085600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:169085000-169085600	Flanking Active TSS	Colonic Mucosa	Colon
38	chr1:169085000-169085600	Genic enhancers	Fetal Kidney	kidney
39	chr1:169085000-169085600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
40	chr1:169085000-169085600	Genic enhancers	Right Ventricle	heart
41	chr1:169085000-169085600	Enhancers	NH-A	brain
42	chr1:169085000-169085800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:169085000-169085800	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
44	chr1:169085000-169085800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
45	chr1:169085000-169085800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:169085000-169085800	Genic enhancers	Fetal Muscle Leg	muscle
47	chr1:169085000-169085800	Enhancers	Placenta	Placenta
48	chr1:169085000-169085800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
49	chr1:169085000-169085800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
50	chr1:169085000-169085800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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