Variant report

Variant	rs60446415
Chromosome Location	chr2:173376484-173376485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10174809	0.81[ASN][1000 genomes]
rs10497385	0.80[EUR][1000 genomes]
rs1076595	0.84[ASN][1000 genomes]
rs12465295	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465442	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12467358	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469958	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12474168	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474995	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475916	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477247	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477594	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12478465	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619242	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622687	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383151	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402061	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344272	0.82[ASN][1000 genomes]
rs1574247	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860543	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178474	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293646	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293649	0.81[ASN][1000 genomes]
rs2357415	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34094408	0.94[ASN][1000 genomes]
rs3749148	0.81[ASN][1000 genomes]
rs3792257	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792260	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281870	0.80[EUR][1000 genomes]
rs4308101	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619573	0.82[ASN][1000 genomes]
rs4972839	0.86[ASN][1000 genomes]
rs56084828	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57418091	0.84[EUR][1000 genomes]
rs57957394	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58016698	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58044442	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59020762	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59524026	0.85[ASN][1000 genomes]
rs59610589	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60275829	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60442917	0.85[ASN][1000 genomes]
rs61542159	0.86[EUR][1000 genomes]
rs6718477	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6755100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894386	0.86[ASN][1000 genomes]
rs7564591	0.82[ASN][1000 genomes]
rs7564654	0.82[ASN][1000 genomes]
rs7565216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582972	0.82[ASN][1000 genomes]
rs7591883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609465	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
3	chr2:173369800-173376600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:173372400-173377000	Weak transcription	Thymus	Thymus
5	chr2:173372600-173379600	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:173374200-173376600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:173374800-173376600	Strong transcription	HSMMtube	muscle
8	chr2:173375000-173380800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:173375200-173377600	ZNF genes & repeats	GM12878-XiMat	blood
10	chr2:173375400-173376600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:173375400-173376800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:173375400-173378400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr2:173375400-173378800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr2:173375400-173379200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:173375600-173376600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:173375600-173376600	ZNF genes & repeats	HSMM	muscle
17	chr2:173375600-173378400	ZNF genes & repeats	Liver	Liver
18	chr2:173375800-173376600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr2:173375800-173376600	Enhancers	Primary T cells from cord blood	blood
20	chr2:173375800-173376600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:173375800-173377600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr2:173376000-173376600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:173376000-173376600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr2:173376000-173377000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr2:173376000-173377200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:173376000-173378400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr2:173376000-173378800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr2:173376000-173379000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr2:173376200-173376600	ZNF genes & repeats	Fetal Heart	heart
30	chr2:173376200-173377200	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr2:173376200-173377400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:173376200-173378600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:173376400-173376800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr2:173376400-173378400	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr2:173376400-173397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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