Variant report

Variant	rs2290448
Chromosome Location	chr2:33447202-33447203
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	chr2:33445727..33447745-chr2:33448807..33450580,2	MCF-7	breast:
2	chr2:33440018..33441970-chr2:33445005..33447288,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10205739	0.86[CHB][hapmap]
rs10495784	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1065324	0.88[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap]
rs11124310	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681694	0.81[CHB][hapmap]
rs12617970	0.88[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap]
rs12620853	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs13021881	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1377946	0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs1377947	0.81[CHB][hapmap]
rs1454376	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1454378	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454379	0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17565877	0.81[CEU][hapmap]
rs17566780	0.83[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap]
rs17567417	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17568051	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641062	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs17641180	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17641906	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17642074	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869542	0.81[CHB][hapmap];0.80[CHD][hapmap]
rs1947444	0.85[CEU][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap]
rs2061026	0.81[CHB][hapmap]
rs2061027	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290449	0.86[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs2367508	0.82[AMR][1000 genomes]
rs2367623	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2367624	0.81[CHB][hapmap]
rs4474865	0.84[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap]
rs4630744	0.82[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4670307	0.81[CHB][hapmap];0.80[CHD][hapmap]
rs4670313	0.88[ASN][1000 genomes]
rs4670778	0.88[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4670857	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs4670928	0.88[CEU][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap]
rs4671010	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671016	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs4671024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671035	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56163907	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58774073	0.85[ASN][1000 genomes]
rs58920936	0.83[ASN][1000 genomes]
rs60000782	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60558455	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62146726	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62146732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62146734	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6543699	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs6705772	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6707962	0.88[GIH][hapmap]
rs6712473	0.88[GIH][hapmap]
rs6715793	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs6726760	0.84[ASN][1000 genomes]
rs6751657	0.88[GIH][hapmap];0.80[TSI][hapmap]
rs726429	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs72797893	0.85[ASN][1000 genomes]
rs7423390	0.81[CHB][hapmap]
rs7580348	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7584473	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7590965	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7608222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608535	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308931	0.81[CHB][hapmap]
rs964702	0.81[CHB][hapmap]
rs964703	0.86[CHB][hapmap]
rs996103	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
3	chr2:33436800-33455000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:33442600-33447600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:33442600-33452200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:33442600-33467600	Weak transcription	Ovary	ovary
7	chr2:33442800-33453400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
9	chr2:33444800-33448400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:33444800-33448400	Enhancers	HMEC	breast
11	chr2:33445600-33447600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:33445600-33449200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:33446000-33448400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:33446000-33448600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr2:33446000-33455000	Weak transcription	Fetal Kidney	kidney
16	chr2:33446200-33448600	Strong transcription	Osteobl	bone
17	chr2:33446400-33447800	Strong transcription	NHDF-Ad	bronchial
18	chr2:33446400-33448000	Strong transcription	NH-A	brain
19	chr2:33446400-33448800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:33446400-33449400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:33446400-33450400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:33446400-33451200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:33446400-33452600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:33446600-33447800	Weak transcription	Fetal Heart	heart
25	chr2:33446600-33448200	Strong transcription	Liver	Liver
26	chr2:33446600-33449000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:33446600-33451200	Weak transcription	K562	blood
28	chr2:33446600-33454800	Weak transcription	A549	lung
29	chr2:33446600-33461200	Weak transcription	HUVEC	blood vessel
30	chr2:33446800-33447600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:33446800-33448000	Weak transcription	NHLF	lung
32	chr2:33446800-33461200	Weak transcription	Fetal Lung	lung
33	chr2:33447000-33447400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:33447000-33448200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:33447000-33449200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:33447000-33449400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:33447000-33449400	Enhancers	NHEK	skin
38	chr2:33447200-33447400	Enhancers	Placenta	Placenta
39	chr2:33447200-33447800	Genic enhancers	Aorta	Aorta
40	chr2:33447200-33448400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:33447200-33449200	Strong transcription	Left Ventricle	heart

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