Variant report

Variant	rs12145057
Chromosome Location	chr1:193112775-193112776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193089678..193094466-chr1:193108770..193113792,7	K562	blood:
2	chr1:193107723..193109396-chr1:193111888..193113808,2	MCF-7	breast:
3	chr1:193100979..193102836-chr1:193111842..193113487,2	K562	blood:
4	chr1:193111468..193113841-chr1:193118312..193119870,2	MCF-7	breast:
5	chr1:193089678..193091267-chr1:193110894..193113792,2	K562	blood:
6	chr1:193072300..193074482-chr1:193111235..193114031,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10399607	0.86[ASN][1000 genomes]
rs10399929	0.86[ASN][1000 genomes]
rs10494674	0.91[CHB][hapmap];0.96[JPT][hapmap];0.98[ASN][1000 genomes]
rs10732293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10733078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10737620	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[ASN][1000 genomes]
rs10737621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10754044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10754046	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10754047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10754048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10754049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10754052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10754053	0.87[ASN][1000 genomes]
rs10801173	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs10801174	1.00[CEU][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801175	0.85[ASN][1000 genomes]
rs10801177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10801178	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10801180	0.99[ASN][1000 genomes]
rs10801182	0.99[ASN][1000 genomes]
rs10801183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10801184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10801188	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10921308	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10921310	0.88[ASN][1000 genomes]
rs10921312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10921313	0.88[ASN][1000 genomes]
rs10921317	0.98[ASN][1000 genomes]
rs10921318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10921319	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10921325	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10921326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10921330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11577299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12086884	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs12090626	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12137318	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141392	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs12735445	0.81[ASN][1000 genomes]
rs1325197	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1408830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs1536097	0.86[ASN][1000 genomes]
rs1536098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1536099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs1539724	0.91[CEU][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1555555	0.81[ASN][1000 genomes]
rs1890660	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs2181408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2182106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2186016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275444	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs2370028	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2370079	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3738244	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3753948	0.82[ASN][1000 genomes]
rs3806351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3818865	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3820417	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3945872	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4379660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4450000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4466634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs4657744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657745	0.99[ASN][1000 genomes]
rs4657842	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4657843	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4657845	0.88[ASN][1000 genomes]
rs4657846	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4657847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4657848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4658079	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs569656	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs6428151	0.98[ASN][1000 genomes]
rs6428152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6428153	0.88[ASN][1000 genomes]
rs6428154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6428155	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6428156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6428157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6428159	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6661522	0.81[CHB][hapmap]
rs6663162	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6663431	0.84[ASN][1000 genomes]
rs6665069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6665666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6671237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6673271	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6675833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6676322	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs6676416	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6676878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6680224	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6692342	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6697079	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs6703727	0.87[ASN][1000 genomes]
rs693519	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs7514072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7515024	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7518792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7519242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7542466	0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs7545223	0.86[ASN][1000 genomes]
rs7546869	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7547615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7553247	0.83[ASN][1000 genomes]
rs7554925	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs817140	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs843844	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs912070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs912071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9427838	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9783104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 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	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:193092800-193115200	Weak transcription	Small Intestine	intestine
3	chr1:193093800-193115400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
5	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:193094000-193115400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:193094200-193113000	Strong transcription	Fetal Thymus	thymus
8	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
9	chr1:193095000-193124400	Strong transcription	Dnd41	blood
10	chr1:193097400-193126800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:193099000-193119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:193100000-193115000	Weak transcription	Fetal Brain Male	brain
13	chr1:193101000-193115400	Weak transcription	Psoas Muscle	Psoas
14	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:193101400-193130000	Weak transcription	Colonic Mucosa	Colon
16	chr1:193101600-193124800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:193104200-193123400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr1:193104200-193126200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:193104200-193135000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:193104400-193113000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:193104400-193124000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:193104600-193112800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:193106000-193140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:193107000-193121600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:193108400-193116000	Strong transcription	HepG2	liver
26	chr1:193109600-193115400	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:193109600-193119400	Weak transcription	Brain Substantia Nigra	brain
28	chr1:193109600-193126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:193109600-193128200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:193109800-193112800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:193109800-193114200	Weak transcription	Fetal Heart	heart
32	chr1:193109800-193114200	Weak transcription	Fetal Lung	lung
33	chr1:193109800-193114400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:193109800-193114400	Weak transcription	Ovary	ovary
35	chr1:193109800-193115200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:193109800-193115200	Weak transcription	HSMMtube	muscle
37	chr1:193109800-193115400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:193109800-193115400	Weak transcription	Fetal Intestine Small	intestine
39	chr1:193109800-193115400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:193109800-193115600	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:193109800-193119200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:193109800-193119400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:193109800-193125800	Weak transcription	Gastric	stomach
44	chr1:193109800-193126200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:193110000-193113400	Weak transcription	Primary B cells from cord blood	blood
46	chr1:193110000-193113600	Weak transcription	Primary T cells from cord blood	blood
47	chr1:193110000-193114800	Weak transcription	Fetal Kidney	kidney
48	chr1:193110000-193114800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:193110000-193114800	Weak transcription	NHLF	lung
50	chr1:193110000-193115000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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