Variant report

Variant	rs73917127
Chromosome Location	chr2:11916748-11916749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11902752..11905515-chr2:11914841..11917001,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11886664	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs55736020	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56187608	1.00[AMR][1000 genomes]
rs56352405	1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs57779431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59101452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs61382095	1.00[EUR][1000 genomes]
rs61594850	1.00[AMR][1000 genomes]
rs6745921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73185109	1.00[EUR][1000 genomes]
rs73915564	1.00[AMR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[EUR][1000 genomes]
rs73917124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7602962	1.00[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11895000-11918200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:11900600-11918000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:11901800-11918600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:11905200-11919000	Weak transcription	Stomach Mucosa	stomach
5	chr2:11905400-11916800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:11906000-11917400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:11906400-11924600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:11906600-11924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11906800-11924600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:11907200-11916800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:11908000-11919000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:11908600-11917600	Strong transcription	K562	blood
13	chr2:11909000-11919000	Strong transcription	HMEC	breast
14	chr2:11910000-11917400	Strong transcription	HepG2	liver
15	chr2:11910000-11918400	Strong transcription	Thymus	Thymus
16	chr2:11911800-11918200	Weak transcription	Small Intestine	intestine
17	chr2:11912000-11919000	Weak transcription	A549	lung
18	chr2:11912400-11917200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:11912400-11917400	Weak transcription	Aorta	Aorta
20	chr2:11912400-11917400	Weak transcription	Spleen	Spleen
21	chr2:11912400-11917600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:11912400-11918200	Weak transcription	Colonic Mucosa	Colon
23	chr2:11912400-11919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:11912600-11918400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:11912600-11918400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:11912600-11920400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:11913600-11919000	Weak transcription	Brain Substantia Nigra	brain
28	chr2:11914000-11919600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:11914200-11917000	Genic enhancers	HUVEC	blood vessel
30	chr2:11914600-11917400	Weak transcription	Psoas Muscle	Psoas
31	chr2:11914600-11918600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:11914800-11918400	Weak transcription	Primary B cells from cord blood	blood
33	chr2:11914800-11919200	Weak transcription	Fetal Brain Male	brain
34	chr2:11914800-11920200	Weak transcription	Fetal Lung	lung
35	chr2:11915000-11916800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:11915000-11916800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:11915000-11916800	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:11915000-11916800	Weak transcription	Pancreas	Pancrea
39	chr2:11915000-11916800	Weak transcription	NHEK	skin
40	chr2:11915000-11917000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:11915000-11917000	Weak transcription	Fetal Intestine Small	intestine
42	chr2:11915000-11917200	Weak transcription	Adipose Nuclei	Adipose
43	chr2:11915000-11917400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:11915000-11917400	Weak transcription	Esophagus	oesophagus
45	chr2:11915000-11917400	Weak transcription	Gastric	stomach
46	chr2:11915000-11917400	Weak transcription	Lung	lung
47	chr2:11915000-11917400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:11915000-11918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:11915000-11918400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:11915000-11918600	Weak transcription	Fetal Brain Female	brain

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