Variant report

Variant	rs12025114
Chromosome Location	chr1:210111733-210111734
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	chr1:210111478..210111978-chr11:236018..236738,2	K562	blood:

Variant related genes	Relation type
ENSG00000142082	Chromatin interaction
ENSG00000185627	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1028325	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1040423	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863799	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119363	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11119369	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119370	0.84[EUR][1000 genomes]
rs11119374	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119375	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119378	0.83[ASN][1000 genomes]
rs11119382	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12079815	0.82[EUR][1000 genomes]
rs12083466	0.87[EUR][1000 genomes]
rs12092530	0.86[EUR][1000 genomes]
rs126277	0.80[EUR][1000 genomes]
rs126278	0.81[EUR][1000 genomes]
rs1387934	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs170552	0.82[EUR][1000 genomes]
rs170553	0.83[EUR][1000 genomes]
rs170555	0.82[EUR][1000 genomes]
rs170558	0.83[EUR][1000 genomes]
rs183450	0.82[EUR][1000 genomes]
rs1883725	0.87[YRI][hapmap]
rs189000	0.83[EUR][1000 genomes]
rs189001	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2142861	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2205989	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227168	0.81[EUR][1000 genomes]
rs227170	0.81[EUR][1000 genomes]
rs227171	0.81[EUR][1000 genomes]
rs227173	0.83[EUR][1000 genomes]
rs227175	0.83[EUR][1000 genomes]
rs227176	0.83[EUR][1000 genomes]
rs227177	0.83[EUR][1000 genomes]
rs227178	0.81[EUR][1000 genomes]
rs227183	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227184	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227186	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227187	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227188	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227189	0.81[EUR][1000 genomes]
rs227190	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227195	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227200	0.82[EUR][1000 genomes]
rs227202	0.82[EUR][1000 genomes]
rs227207	0.81[EUR][1000 genomes]
rs227216	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227221	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227223	0.82[EUR][1000 genomes]
rs227225	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227227	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227229	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227232	0.83[EUR][1000 genomes]
rs2357212	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2636373	0.83[EUR][1000 genomes]
rs2743891	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs2884124	0.80[EUR][1000 genomes]
rs4454550	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4462143	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4844913	0.81[EUR][1000 genomes]
rs6540567	0.83[EUR][1000 genomes]
rs6540568	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6540569	0.96[CEU][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs6540570	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6662445	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6667057	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6678081	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6682334	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6682546	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6689456	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6702961	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs701947	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs701948	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs724054	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7513171	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7528647	0.96[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7544033	0.84[EUR][1000 genomes]
rs7548989	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7549523	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7549696	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs846545	0.82[EUR][1000 genomes]
rs846548	0.82[EUR][1000 genomes]
rs846549	0.82[EUR][1000 genomes]
rs846550	0.81[EUR][1000 genomes]
rs846553	0.83[EUR][1000 genomes]
rs846556	0.83[EUR][1000 genomes]
rs846557	0.83[EUR][1000 genomes]
rs846559	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs9429827	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9429829	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429830	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430020	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9430024	0.84[EUR][1000 genomes]
rs9430026	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9662387	0.85[EUR][1000 genomes]
rs986057	0.96[CEU][hapmap];0.85[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825811	chr1:210082206-210135806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3438109	chr1:210110354-210112902	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210110200-210112400	Active TSS	Brain Anterior Caudate	brain
2	chr1:210110200-210112800	Active TSS	Brain Angular Gyrus	brain
3	chr1:210110400-210112400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:210110400-210112800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:210110400-210112800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:210110600-210112000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:210110600-210112000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:210110600-210112000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:210110600-210112000	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:210110600-210112200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:210110600-210112200	Bivalent/Poised TSS	Osteobl	bone
12	chr1:210110600-210112400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:210110600-210112600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:210110600-210112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:210110600-210113000	Active TSS	Fetal Brain Female	brain
16	chr1:210110600-210113200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:210110800-210111800	Bivalent Enhancer	Liver	Liver
18	chr1:210110800-210112000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:210110800-210112000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:210110800-210112000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:210110800-210112000	Active TSS	Brain Germinal Matrix	brain
22	chr1:210110800-210112000	Bivalent Enhancer	Small Intestine	intestine
23	chr1:210110800-210112000	Bivalent/Poised TSS	HSMMtube	muscle
24	chr1:210110800-210112000	Active TSS	NHLF	lung
25	chr1:210110800-210112200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:210110800-210112200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:210110800-210112200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:210110800-210112200	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:210110800-210112200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:210110800-210112400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr1:210110800-210112400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:210110800-210112400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:210111000-210111800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:210111000-210111800	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:210111000-210112000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:210111000-210112000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:210111000-210112000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr1:210111000-210112000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:210111000-210112000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:210111000-210112000	Bivalent/Poised TSS	Thymus	Thymus
41	chr1:210111000-210112000	Active TSS	HMEC	breast
42	chr1:210111000-210112000	Bivalent/Poised TSS	HUVEC	blood vessel
43	chr1:210111000-210112000	Active TSS	NHDF-Ad	bronchial
44	chr1:210111000-210112200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:210111000-210112200	Bivalent Enhancer	Lung	lung
46	chr1:210111000-210112400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:210111000-210112400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:210111000-210112400	Active TSS	Brain Substantia Nigra	brain
49	chr1:210111000-210112600	Active TSS	Brain Hippocampus Middle	brain
50	chr1:210111000-210112800	Active TSS	NH-A	brain

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