Variant report

Variant	rs28403919
Chromosome Location	chr1:92350201-92350202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10157853	0.99[ASN][1000 genomes]
rs10430069	0.91[ASN][1000 genomes]
rs10493857	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10875030	0.89[EUR][1000 genomes]
rs10875040	0.93[ASN][1000 genomes]
rs11165679	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11165681	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11165787	0.81[ASN][1000 genomes]
rs11466542	0.91[ASN][1000 genomes]
rs11580031	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11580045	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11585105	0.93[ASN][1000 genomes]
rs11590254	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1192524	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12026798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12032588	0.99[ASN][1000 genomes]
rs12127774	0.89[EUR][1000 genomes]
rs12140637	0.91[ASN][1000 genomes]
rs12569180	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12725483	0.99[ASN][1000 genomes]
rs17516329	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17576372	0.93[ASN][1000 genomes]
rs17881430	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17884021	0.92[ASN][1000 genomes]
rs2450924	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61779066	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6656018	0.83[EUR][1000 genomes]
rs66786059	0.93[ASN][1000 genomes]
rs7550034	0.92[ASN][1000 genomes]
rs9661103	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1002730	chr1:92302541-92565229	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv830581	chr1:92317207-92511175	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr1:92346400-92352400	Active TSS	Ovary	ovary
2	chr1:92348600-92351800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:92348600-92352200	Active TSS	Psoas Muscle	Psoas
4	chr1:92348600-92352200	Active TSS	NHLF	lung
5	chr1:92348600-92352400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:92348600-92352400	Active TSS	Right Atrium	heart
7	chr1:92348800-92352200	Active TSS	NHDF-Ad	bronchial
8	chr1:92349000-92350400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:92349000-92351000	Active TSS	Right Ventricle	heart
10	chr1:92349000-92351200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:92349000-92351200	Bivalent/Poised TSS	HepG2	liver
12	chr1:92349000-92351600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:92349000-92352000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:92349000-92352000	Active TSS	Stomach Smooth Muscle	stomach
15	chr1:92349000-92352200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:92349000-92352400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:92349000-92352600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:92349200-92352200	Active TSS	Lung	lung
19	chr1:92349400-92351200	Active TSS	Colonic Mucosa	Colon
20	chr1:92349400-92352200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr1:92349400-92352600	Active TSS	Colon Smooth Muscle	Colon
22	chr1:92349600-92351800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:92349600-92352000	Active TSS	Adipose Nuclei	Adipose
24	chr1:92349600-92352000	Active TSS	Fetal Stomach	stomach
25	chr1:92349600-92352200	Active TSS	Pancreas	Pancrea
26	chr1:92349600-92352400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:92349600-92352600	Active TSS	A549	lung
28	chr1:92349800-92350400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:92349800-92350400	Active TSS	Placenta	Placenta
30	chr1:92349800-92350800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr1:92349800-92350800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:92349800-92350800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:92349800-92350800	Flanking Active TSS	Liver	Liver
34	chr1:92349800-92350800	Flanking Active TSS	Fetal Lung	lung
35	chr1:92350000-92350400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:92350000-92350400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:92350000-92350400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:92350000-92350400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:92350000-92350400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr1:92350000-92350400	Flanking Active TSS	Fetal Kidney	kidney
41	chr1:92350000-92350400	Bivalent/Poised TSS	Fetal Thymus	thymus
42	chr1:92350000-92350400	Enhancers	Gastric	stomach
43	chr1:92350000-92350400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:92350000-92350400	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr1:92350000-92350400	Enhancers	Small Intestine	intestine
46	chr1:92350000-92350400	Flanking Active TSS	Hela-S3	cervix
47	chr1:92350000-92350400	Flanking Active TSS	Osteobl	bone
48	chr1:92350000-92350600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr1:92350000-92350600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr1:92350000-92350600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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