Variant report

Variant	rs13406665
Chromosome Location	chr2:30498653-30498654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30490451..30492862-chr2:30496665..30498912,2	K562	blood:
2	chr2:30497560..30499360-chr2:30505202..30507346,2	MCF-7	breast:
3	chr2:30486354..30489346-chr2:30498547..30500363,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10495774	1.00[ASN][1000 genomes]
rs12469902	1.00[ASN][1000 genomes]
rs12472981	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475240	1.00[ASN][1000 genomes]
rs13396720	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410030	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410363	0.92[AMR][1000 genomes]
rs17322090	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17322097	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394102	1.00[ASN][1000 genomes]
rs72787730	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787734	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787741	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787743	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787745	1.00[ASN][1000 genomes]
rs72787748	1.00[ASN][1000 genomes]
rs7563661	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569754	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572714	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574911	0.92[AMR][1000 genomes]
rs7579019	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587320	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606266	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608977	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30491600-30499200	Weak transcription	GM12878-XiMat	blood
3	chr2:30491800-30501600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:30491800-30501800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:30492600-30501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:30493400-30506800	Weak transcription	Right Ventricle	heart
7	chr2:30494600-30499000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:30494600-30499400	Weak transcription	Fetal Thymus	thymus
9	chr2:30494600-30507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:30494800-30505800	Weak transcription	K562	blood
11	chr2:30495400-30499800	Enhancers	Fetal Intestine Large	intestine
12	chr2:30495400-30499800	Enhancers	Fetal Intestine Small	intestine
13	chr2:30495800-30499600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:30495800-30499600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:30496000-30499400	Weak transcription	Pancreas	Pancrea
16	chr2:30496400-30509800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:30496600-30499200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:30496600-30499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:30496600-30499400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:30496600-30499400	Weak transcription	Aorta	Aorta
21	chr2:30496600-30501600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
23	chr2:30496800-30506800	Weak transcription	Left Ventricle	heart
24	chr2:30497200-30500000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:30497600-30501600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:30497800-30499000	Weak transcription	Esophagus	oesophagus
27	chr2:30497800-30499200	Weak transcription	Thymus	Thymus
28	chr2:30497800-30499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:30497800-30500800	Weak transcription	Lung	lung
30	chr2:30497800-30505600	Weak transcription	Spleen	Spleen
31	chr2:30497800-30516400	Weak transcription	Gastric	stomach
32	chr2:30498000-30499400	Weak transcription	Colonic Mucosa	Colon
33	chr2:30498000-30505600	Weak transcription	Fetal Stomach	stomach
34	chr2:30498200-30498800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:30498200-30500400	Enhancers	Primary B cells from cord blood	blood
36	chr2:30498400-30498800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:30498400-30498800	Weak transcription	Stomach Mucosa	stomach
38	chr2:30498400-30499400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:30498400-30499400	Weak transcription	Fetal Heart	heart
40	chr2:30498400-30499400	Weak transcription	Small Intestine	intestine
41	chr2:30498400-30499400	Weak transcription	HSMM	muscle
42	chr2:30498400-30499400	Weak transcription	NHLF	lung
43	chr2:30498400-30499600	Enhancers	HMEC	breast
44	chr2:30498400-30499600	Enhancers	NHEK	skin
45	chr2:30498400-30500000	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:30498400-30500200	Enhancers	A549	lung
47	chr2:30498400-30501600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:30498400-30503600	Weak transcription	NH-A	brain
49	chr2:30498600-30499000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:30498600-30499000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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