Variant report

Variant	rs12904908
Chromosome Location	chr2:149473090-149473091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11635013	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11855015	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1478192	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1841943	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061744	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2616927	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899520	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2899521	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3848138	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3848139	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7498014	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8026052	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8028861	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[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	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1827161	chr2:149352353-149475737	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149429200-149477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:149432600-149477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:149436600-149477000	Weak transcription	Lung	lung
4	chr2:149447200-149478000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:149452000-149474800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:149453200-149474000	Weak transcription	NHEK	skin
7	chr2:149453800-149477400	Weak transcription	Placenta	Placenta
8	chr2:149457600-149477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:149457600-149477200	Weak transcription	Thymus	Thymus
10	chr2:149459000-149477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:149459200-149477600	Weak transcription	HSMM	muscle
12	chr2:149459400-149477200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:149459400-149477400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:149459600-149477600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:149460400-149473600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:149461400-149486000	Weak transcription	Aorta	Aorta
17	chr2:149461600-149473400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:149461800-149477200	Weak transcription	Fetal Kidney	kidney
19	chr2:149462000-149474800	Weak transcription	Primary T cells from cord blood	blood
20	chr2:149462000-149477200	Weak transcription	Ovary	ovary
21	chr2:149462000-149477800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:149462400-149474800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:149462400-149474800	Weak transcription	Fetal Lung	lung
24	chr2:149462600-149479800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:149462800-149475200	Weak transcription	HepG2	liver
26	chr2:149463000-149477000	Weak transcription	Dnd41	blood
27	chr2:149463000-149479000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:149463000-149485600	Weak transcription	Liver	Liver
29	chr2:149463200-149476200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:149463200-149477200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:149463200-149477200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:149463200-149477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:149463600-149473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:149463600-149477000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:149463600-149477200	Weak transcription	Fetal Thymus	thymus
36	chr2:149463800-149479000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:149470400-149477000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:149470400-149477200	Weak transcription	Esophagus	oesophagus
39	chr2:149470600-149475000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:149470600-149475600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:149471400-149475400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:149471600-149473200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:149471800-149476600	Enhancers	Primary B cells from peripheral blood	blood
44	chr2:149472400-149474800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:149472600-149474800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:149473000-149473200	Enhancers	Primary B cells from cord blood	blood
47	chr2:149473000-149474400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:149473000-149479000	Enhancers	K562	blood
49	chr2:149473000-149481400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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