Variant report

Variant	rs28914510
Chromosome Location	chr1:179102268-179102269
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10913700	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913704	0.86[AMR][1000 genomes]
rs11584312	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11584705	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11589113	1.00[ASN][1000 genomes]
rs12120194	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12126360	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12128447	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12129054	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132268	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12133704	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1318056	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490311	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16853640	1.00[ASN][1000 genomes]
rs28913570	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28913877	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28914503	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56949555	1.00[ASN][1000 genomes]
rs57903944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73038859	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038874	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038878	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044740	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044744	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044747	0.86[AMR][1000 genomes]
rs73044749	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044753	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044761	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044765	0.86[AMR][1000 genomes]
rs73044767	0.86[AMR][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	nsv1012667	chr1:179094571-179120280	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1002253	chr1:179094571-179120938	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1001191	chr1:179097246-179120938	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179063200-179112000	Weak transcription	Fetal Kidney	kidney
2	chr1:179079600-179109800	Weak transcription	Small Intestine	intestine
3	chr1:179080400-179103800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:179086600-179105000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:179087800-179113000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:179088200-179102400	Weak transcription	Brain Germinal Matrix	brain
7	chr1:179090800-179104400	Weak transcription	Fetal Brain Female	brain
8	chr1:179091000-179108800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:179091000-179109000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:179091000-179109200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:179093400-179117200	Weak transcription	Fetal Stomach	stomach
12	chr1:179095800-179103600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:179095800-179106800	Weak transcription	Gastric	stomach
14	chr1:179095800-179107400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:179096400-179108800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:179096600-179106800	Weak transcription	Fetal Lung	lung
17	chr1:179096600-179110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:179098200-179112000	Weak transcription	Lung	lung
19	chr1:179099200-179110200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:179099200-179110400	Weak transcription	Brain Angular Gyrus	brain
21	chr1:179099200-179110400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:179099200-179114800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:179099400-179103400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:179099400-179106800	Weak transcription	Pancreas	Pancrea
25	chr1:179099400-179106800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:179099400-179106800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:179099400-179107000	Weak transcription	Placenta	Placenta
28	chr1:179099400-179110000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:179099400-179110400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:179099400-179112000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:179099400-179112000	Weak transcription	Left Ventricle	heart
32	chr1:179099600-179103400	Strong transcription	NH-A	brain
33	chr1:179099600-179103800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:179099600-179106800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:179099600-179106800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:179099600-179109200	Weak transcription	Primary T cells from cord blood	blood
37	chr1:179099600-179109800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:179099600-179109800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:179099600-179110000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:179099600-179110200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:179099600-179110600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:179099600-179110800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:179099600-179116800	Weak transcription	Thymus	Thymus
44	chr1:179099600-179119400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:179099600-179122600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:179099800-179104000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:179099800-179106400	Weak transcription	Hela-S3	cervix
48	chr1:179099800-179107000	Weak transcription	Adipose Nuclei	Adipose
49	chr1:179099800-179107000	Weak transcription	Psoas Muscle	Psoas
50	chr1:179099800-179108800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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