Variant report

Variant	rs61059868
Chromosome Location	chr2:235152985-235152986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12465474	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34795266	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs60055447	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7572117	1.00[EUR][1000 genomes];0.98[ASN][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834572	chr2:235146304-235333842	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235145200-235156000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:235148800-235154400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:235149200-235154200	Enhancers	NH-A	brain
4	chr2:235149400-235154400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:235149400-235155400	Enhancers	NHDF-Ad	bronchial
6	chr2:235149400-235171600	Enhancers	HMEC	breast
7	chr2:235150800-235154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:235150800-235155400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:235150800-235156000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:235151000-235156400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:235151200-235153200	Enhancers	Fetal Kidney	kidney
12	chr2:235151200-235154200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:235151200-235156000	Enhancers	NHEK	skin
14	chr2:235151400-235154200	Weak transcription	NHLF	lung
15	chr2:235151400-235154400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:235151400-235154400	Weak transcription	HSMMtube	muscle
17	chr2:235151400-235158200	Weak transcription	Hela-S3	cervix
18	chr2:235151400-235158400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:235151600-235153200	Weak transcription	HSMM	muscle
20	chr2:235151600-235154400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:235152200-235153000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:235152200-235153200	Active TSS	A549	lung
23	chr2:235152200-235153400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:235152400-235153000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:235152400-235153000	Flanking Active TSS	Osteobl	bone
26	chr2:235152400-235153200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:235152400-235153400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:235152400-235153400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:235152400-235153400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:235152400-235153400	Flanking Active TSS	Dnd41	blood
31	chr2:235152400-235153600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:235152400-235156200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:235152600-235153000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:235152600-235153000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:235152600-235153000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:235152600-235153000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:235152600-235153200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:235152600-235153600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:235152600-235171800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:235152800-235153000	Flanking Active TSS	HUVEC	blood vessel
41	chr2:235152800-235153200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr2:235152800-235153200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:235152800-235153200	Enhancers	Fetal Intestine Large	intestine
44	chr2:235152800-235156000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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