Variant report

Variant	rs10190458
Chromosome Location	chr2:209211050-209211051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209209485..209212181-chr2:209212474..209214962,2	MCF-7	breast:
2	chr2:209210530..209214066-chr2:209215409..209218725,4	K562	blood:
3	chr2:209210530..209212074-chr2:209215409..209217883,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10174541	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10176626	0.82[EUR][1000 genomes]
rs10177810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10186350	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10194539	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10198535	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10497897	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10497898	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10932260	0.82[EUR][1000 genomes]
rs11538998	0.80[CEU][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes]
rs11885913	0.90[CEU][hapmap];0.89[MEX][hapmap]
rs11891163	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11895188	0.80[CEU][hapmap];0.89[MEX][hapmap]
rs11898653	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11901959	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12185709	1.00[CEU][hapmap]
rs12475932	0.90[CEU][hapmap];0.85[GIH][hapmap];0.81[MEX][hapmap]
rs12694104	1.00[CEU][hapmap]
rs12694110	0.85[YRI][hapmap]
rs12991283	0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12998277	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13000248	0.94[YRI][hapmap]
rs13395035	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13400356	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13407268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13407897	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13412043	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1584200	0.82[EUR][1000 genomes]
rs17699982	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17700235	0.90[CEU][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes]
rs1866046	0.90[CEU][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs1900239	0.82[EUR][1000 genomes]
rs2304545	0.95[EUR][1000 genomes]
rs28418905	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28885800	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35217101	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35293936	0.83[ASW][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4673391	0.82[EUR][1000 genomes]
rs4673394	1.00[CEU][hapmap]
rs4673402	0.85[YRI][hapmap]
rs4675748	0.91[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs4675751	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs66887797	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6724208	0.82[EUR][1000 genomes]
rs6725527	0.86[AMR][1000 genomes]
rs6728530	0.80[YRI][hapmap]
rs6736599	0.82[EUR][1000 genomes]
rs67660353	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs67669827	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67965883	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73056463	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7355562	0.91[EUR][1000 genomes]
rs7557303	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7587752	0.82[EUR][1000 genomes]
rs7592472	0.95[EUR][1000 genomes]
rs9288392	0.82[EUR][1000 genomes]
rs999890	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs999891	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv460055	chr2:209208115-209221935	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv584302	chr2:209208115-209221935	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
4	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:209185600-209224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:209188400-209213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:209188400-209221400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:209188400-209223400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:209188600-209214200	Strong transcription	Placenta	Placenta
10	chr2:209188800-209211200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:209188800-209211200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:209188800-209212000	Strong transcription	Adipose Nuclei	Adipose
13	chr2:209188800-209212400	Strong transcription	NH-A	brain
14	chr2:209188800-209213200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:209188800-209214000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:209188800-209215400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:209188800-209220400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:209188800-209221200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:209188800-209221200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr2:209188800-209221800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:209188800-209222200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:209188800-209222400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:209188800-209222600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:209188800-209223600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:209188800-209223800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:209188800-209224000	Strong transcription	Primary B cells from cord blood	blood
27	chr2:209188800-209224000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:209188800-209224200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:209188800-209224400	Strong transcription	Dnd41	blood
30	chr2:209190600-209224200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:209191000-209212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:209191000-209218000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:209191200-209211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:209191200-209212600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:209191200-209215400	Weak transcription	Right Ventricle	heart
36	chr2:209191200-209215600	Weak transcription	Aorta	Aorta
37	chr2:209191200-209224200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:209192400-209218600	Weak transcription	Hela-S3	cervix
39	chr2:209192600-209214200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:209194400-209214000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:209194400-209220600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:209195400-209220000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:209195400-209223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:209195600-209216600	Weak transcription	Fetal Heart	heart
45	chr2:209195800-209216400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:209195800-209217800	Weak transcription	Fetal Brain Male	brain
47	chr2:209196600-209211400	Weak transcription	HSMMtube	muscle
48	chr2:209197800-209220400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:209198000-209220200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:209198000-209221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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