Variant report

Variant	rs60489255
Chromosome Location	chr2:10777512-10777513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10776080..10777599-chr2:10780573..10782141,2	K562	blood:
2	chr2:10761784..10763468-chr2:10774703..10777670,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2171771	1.00[AMR][1000 genomes]
rs56702784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56914795	1.00[AMR][1000 genomes]
rs57125237	1.00[AMR][1000 genomes]
rs57309175	1.00[AMR][1000 genomes]
rs57382387	1.00[AMR][1000 genomes]
rs57464659	1.00[AMR][1000 genomes]
rs57597544	1.00[AMR][1000 genomes]
rs58214362	1.00[AMR][1000 genomes]
rs58838965	1.00[AMR][1000 genomes]
rs58886768	1.00[AMR][1000 genomes]
rs59114654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59640725	1.00[AMR][1000 genomes]
rs60016454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60286502	1.00[AMR][1000 genomes]
rs60384217	1.00[AMR][1000 genomes]
rs61167760	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749287	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73165980	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167824	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167845	1.00[AMR][1000 genomes]
rs73167849	1.00[AMR][1000 genomes]
rs73167864	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167887	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167897	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167901	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169906	1.00[AMR][1000 genomes]
rs73169907	1.00[AMR][1000 genomes]
rs73169908	1.00[AMR][1000 genomes]
rs73169912	0.92[AFR][1000 genomes]
rs73169917	1.00[AMR][1000 genomes]
rs73169921	1.00[AMR][1000 genomes]
rs73169922	1.00[AMR][1000 genomes]
rs73169924	1.00[AMR][1000 genomes]
rs73169925	1.00[AMR][1000 genomes]
rs73169929	1.00[AMR][1000 genomes]
rs73169933	1.00[AMR][1000 genomes]
rs7587281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607468	0.87[AFR][1000 genomes];1.00[AMR][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	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10725600-10793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:10725800-10787000	Weak transcription	Fetal Heart	heart
3	chr2:10729400-10781800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:10732000-10777600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:10740200-10782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:10742600-10791000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:10742800-10782400	Weak transcription	Esophagus	oesophagus
9	chr2:10746600-10781800	Weak transcription	Right Ventricle	heart
10	chr2:10746800-10781800	Weak transcription	Pancreas	Pancrea
11	chr2:10747000-10781800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:10753600-10792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:10754800-10796000	Weak transcription	Small Intestine	intestine
14	chr2:10756200-10795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:10757600-10777600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:10758000-10782000	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:10761000-10778200	Weak transcription	Thymus	Thymus
19	chr2:10761000-10782200	Weak transcription	NHLF	lung
20	chr2:10761000-10783000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:10761200-10777600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:10761200-10782400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:10761200-10782800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:10761800-10782000	Weak transcription	Gastric	stomach
25	chr2:10761800-10793600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:10762000-10793600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:10762200-10778000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:10764200-10780400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:10765600-10787200	Weak transcription	Fetal Brain Male	brain
30	chr2:10770400-10778400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:10770400-10778600	Strong transcription	Primary T cells from cord blood	blood
32	chr2:10771800-10793400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:10772000-10778600	Strong transcription	GM12878-XiMat	blood
34	chr2:10772200-10778000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:10772200-10778400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:10772200-10778400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:10772200-10793400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:10772400-10778000	Strong transcription	Brain Germinal Matrix	brain
40	chr2:10772400-10778400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:10772400-10778800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:10772400-10785000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:10772400-10793600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:10772600-10778600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:10772600-10780600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:10772800-10777600	Weak transcription	NH-A	brain
47	chr2:10772800-10778400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:10772800-10778600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:10772800-10778600	Strong transcription	Liver	Liver
50	chr2:10772800-10783200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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