Variant report

Variant	rs16823344
Chromosome Location	chr1:184588710-184588711
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184586812..184591239-chr1:184591803..184597596,5	K562	blood:
2	chr1:184587891..184589883-chr1:184623731..184626066,2	K562	blood:
3	chr1:184581267..184582787-chr1:184586078..184588900,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10911611	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs16823145	0.85[TSI][hapmap]
rs16823336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16823340	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17255321	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1832552	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2207521	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55699645	0.81[EUR][1000 genomes]
rs56691746	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56715278	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60220474	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6695258	0.85[TSI][hapmap]
rs6698504	0.85[TSI][hapmap]
rs6701227	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7520438	0.89[CHB][hapmap];1.00[CHD][hapmap]
rs7528356	0.89[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1008237	chr1:184583205-184609820	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv525959	chr1:184583294-184595020	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv528925	chr1:184583294-184596584	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184557200-184591600	Weak transcription	Aorta	Aorta
2	chr1:184560600-184591000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:184567200-184590200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:184569800-184588800	Weak transcription	Liver	Liver
5	chr1:184571600-184591200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:184573600-184598800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:184574800-184589000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:184578200-184591400	Weak transcription	Lung	lung
9	chr1:184578600-184598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:184580600-184591000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:184580600-184591400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:184580800-184588800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:184580800-184590200	Weak transcription	Right Atrium	heart
14	chr1:184580800-184590400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:184580800-184590600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:184580800-184591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:184580800-184605000	Weak transcription	Fetal Brain Female	brain
18	chr1:184581000-184589000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:184581000-184589200	Weak transcription	Ovary	ovary
20	chr1:184581000-184590600	Weak transcription	Fetal Heart	heart
21	chr1:184581000-184590800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:184581000-184590800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:184581000-184590800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:184581000-184598800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:184581000-184602200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:184581200-184589000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:184581400-184591200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:184581400-184591400	Weak transcription	HMEC	breast
29	chr1:184582000-184590200	Weak transcription	NHEK	skin
30	chr1:184584600-184589000	Weak transcription	Fetal Lung	lung
31	chr1:184584600-184589400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:184584600-184589400	Weak transcription	NHLF	lung
33	chr1:184584600-184590600	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:184584800-184590000	Weak transcription	Left Ventricle	heart
35	chr1:184584800-184590200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:184584800-184591400	Weak transcription	Spleen	Spleen
37	chr1:184585000-184588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:184585000-184589000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:184585000-184599600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:184585200-184597600	Weak transcription	Fetal Brain Male	brain
41	chr1:184585200-184611600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:184585400-184589400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:184585600-184588800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:184586000-184589200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:184586000-184590000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:184586800-184589200	Weak transcription	Psoas Muscle	Psoas
47	chr1:184586800-184590800	Weak transcription	Right Ventricle	heart
48	chr1:184586800-184593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:184587000-184589400	Weak transcription	Fetal Stomach	stomach
50	chr1:184587000-184589600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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