Variant report

Variant	rs12061013
Chromosome Location	chr1:173919592-173919593
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173902831..173905140-chr1:173919125..173921351,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10158197	1.00[EUR][1000 genomes]
rs10399912	1.00[EUR][1000 genomes]
rs10489892	1.00[EUR][1000 genomes]
rs10489893	1.00[EUR][1000 genomes]
rs10912668	1.00[EUR][1000 genomes]
rs10912674	1.00[EUR][1000 genomes]
rs10912681	1.00[EUR][1000 genomes]
rs10912687	1.00[EUR][1000 genomes]
rs10912688	1.00[EUR][1000 genomes]
rs10912693	1.00[EUR][1000 genomes]
rs10912699	1.00[EUR][1000 genomes]
rs10912700	1.00[EUR][1000 genomes]
rs10912701	1.00[EUR][1000 genomes]
rs10912707	1.00[EUR][1000 genomes]
rs10912708	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912711	1.00[EUR][1000 genomes]
rs10912712	1.00[EUR][1000 genomes]
rs10912725	1.00[EUR][1000 genomes]
rs10912742	1.00[EUR][1000 genomes]
rs10912743	1.00[EUR][1000 genomes]
rs10912744	1.00[EUR][1000 genomes]
rs1135333	1.00[EUR][1000 genomes]
rs12057440	1.00[EUR][1000 genomes]
rs12058498	1.00[EUR][1000 genomes]
rs12060967	1.00[EUR][1000 genomes]
rs12062801	1.00[EUR][1000 genomes]
rs12063273	1.00[EUR][1000 genomes]
rs12063296	1.00[EUR][1000 genomes]
rs12064818	1.00[EUR][1000 genomes]
rs12065194	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067109	1.00[EUR][1000 genomes]
rs12067191	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068440	1.00[EUR][1000 genomes]
rs12069446	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072553	1.00[EUR][1000 genomes]
rs12073448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077462	1.00[EUR][1000 genomes]
rs12078471	1.00[EUR][1000 genomes]
rs12078645	1.00[EUR][1000 genomes]
rs12078817	0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079240	1.00[EUR][1000 genomes]
rs12079274	1.00[EUR][1000 genomes]
rs12079315	1.00[EUR][1000 genomes]
rs12079650	1.00[EUR][1000 genomes]
rs12081137	1.00[EUR][1000 genomes]
rs12081534	0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12081595	1.00[EUR][1000 genomes]
rs12083064	1.00[EUR][1000 genomes]
rs12084213	1.00[EUR][1000 genomes]
rs12084911	1.00[EUR][1000 genomes]
rs12086687	1.00[EUR][1000 genomes]
rs12090440	1.00[EUR][1000 genomes]
rs12090507	1.00[EUR][1000 genomes]
rs12093624	1.00[EUR][1000 genomes]
rs12094912	1.00[EUR][1000 genomes]
rs12096013	1.00[EUR][1000 genomes]
rs1322773	1.00[EUR][1000 genomes]
rs1322781	1.00[EUR][1000 genomes]
rs1570385	1.00[EUR][1000 genomes]
rs16846395	1.00[EUR][1000 genomes]
rs16846398	1.00[EUR][1000 genomes]
rs1956522	1.00[EUR][1000 genomes]
rs2227611	1.00[EUR][1000 genomes]
rs2227622	1.00[EUR][1000 genomes]
rs56195767	1.00[EUR][1000 genomes]
rs57586767	1.00[EUR][1000 genomes]
rs59090917	1.00[EUR][1000 genomes]
rs59332560	1.00[EUR][1000 genomes]
rs6425256	1.00[EUR][1000 genomes]
rs6673147	1.00[EUR][1000 genomes]
rs6684147	1.00[EUR][1000 genomes]
rs74126415	1.00[EUR][1000 genomes]
rs7550107	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs874342	1.00[EUR][1000 genomes]
rs9425413	1.00[EUR][1000 genomes]
rs9425414	1.00[EUR][1000 genomes]
rs9425427	1.00[EUR][1000 genomes]
rs9425735	1.00[EUR][1000 genomes]
rs9425768	1.00[EUR][1000 genomes]
rs997165	1.00[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
3	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv872550	chr1:173913804-173964206	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173899400-173927200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:173899400-173929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:173899600-173923200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:173899800-173953800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr1:173900000-173929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:173900000-173958600	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr1:173900000-173962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:173900000-173966600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:173900000-173968200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:173900200-173966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:173900400-173964600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:173900800-173963800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:173901200-173931400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:173901400-173962200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:173901600-173966400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:173901600-173966400	Strong transcription	Dnd41	blood
17	chr1:173902200-173921200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:173902200-173928200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:173902200-173954600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:173902600-173954400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:173903200-173925000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:173903200-173925600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:173903400-173927000	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:173903400-173927000	Strong transcription	Fetal Thymus	thymus
25	chr1:173904000-173929200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:173904000-173966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:173904800-173921400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:173904800-173921400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:173904800-173923200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:173904800-173954200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:173905000-173927000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:173905000-173938400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:173905000-173962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:173905200-173954600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:173906000-173920800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:173906000-173925600	Strong transcription	Placenta	Placenta
37	chr1:173906000-173940400	Strong transcription	Adipose Nuclei	Adipose
38	chr1:173906000-173959000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:173906200-173920200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:173906200-173920400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:173906200-173921400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:173906200-173937600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:173906400-173931800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:173906800-173959000	Strong transcription	Liver	Liver
45	chr1:173907000-173924000	Strong transcription	GM12878-XiMat	blood
46	chr1:173907200-173920200	Strong transcription	Brain Germinal Matrix	brain
47	chr1:173907200-173920600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:173907200-173921200	Strong transcription	Left Ventricle	heart
49	chr1:173907200-173921400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:173907200-173926800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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