Variant report

Variant	rs12124924
Chromosome Location	chr1:193163903-193163904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193157136..193159095-chr1:193163776..193165606,2	K562	blood:
2	chr1:193156268..193159950-chr1:193162638..193166172,6	K562	blood:
3	chr1:193162352..193165279-chr1:193167859..193169930,2	K562	blood:
4	chr1:193154772..193157092-chr1:193163093..193165694,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162630	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10494675	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10801186	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10921331	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12119992	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12122868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123750	0.83[EUR][1000 genomes]
rs12123793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12124921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12128125	0.83[EUR][1000 genomes]
rs12129126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135148	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12135670	0.83[EUR][1000 genomes]
rs12137391	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12141029	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12141336	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12141559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143361	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143573	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145101	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145609	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12145761	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1325196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17526825	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17528639	0.86[EUR][1000 genomes]
rs17592121	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17592633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17593120	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17593414	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28930673	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28930674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs528790	0.89[EUR][1000 genomes]
rs6663374	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6667917	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6682904	1.00[EUR][1000 genomes]
rs6685991	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72731058	0.80[EUR][1000 genomes]
rs72731066	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72731068	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740243	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740246	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740259	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740261	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740270	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72740276	0.86[EUR][1000 genomes]
rs7525157	0.86[EUR][1000 genomes]
rs817137	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
2	chr1:193155800-193175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
5	chr1:193156000-193167400	Weak transcription	Ovary	ovary
6	chr1:193156000-193175400	Weak transcription	HMEC	breast
7	chr1:193156200-193174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:193156200-193175400	Weak transcription	NHEK	skin
9	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
10	chr1:193156600-193173000	Weak transcription	Osteobl	bone
11	chr1:193156600-193180200	Weak transcription	NH-A	brain
12	chr1:193157200-193167400	Weak transcription	Stomach Mucosa	stomach
13	chr1:193157400-193167200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:193157600-193168400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:193159000-193168400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:193159200-193170000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:193159400-193175400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:193159600-193178000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:193159800-193174400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:193159800-193185000	Weak transcription	Fetal Brain Male	brain
22	chr1:193160000-193164600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:193160000-193174000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:193160000-193175200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:193160000-193175200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:193160200-193175400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:193160200-193180200	Weak transcription	HSMMtube	muscle
28	chr1:193160400-193169600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:193162000-193172800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:193162000-193173400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:193162000-193174400	Weak transcription	Fetal Kidney	kidney
32	chr1:193162000-193176200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:193162000-193176400	Weak transcription	Thymus	Thymus
34	chr1:193162000-193186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:193162000-193186200	Weak transcription	Placenta	Placenta
36	chr1:193162200-193164200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:193162200-193167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:193162200-193167400	Weak transcription	Psoas Muscle	Psoas
39	chr1:193162200-193168400	Weak transcription	Fetal Stomach	stomach
40	chr1:193162200-193168400	Weak transcription	Left Ventricle	heart
41	chr1:193162200-193172800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:193162200-193173000	Weak transcription	Dnd41	blood
43	chr1:193162200-193173800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:193162200-193174000	Weak transcription	Primary T cells from cord blood	blood
45	chr1:193162200-193174000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:193162200-193174000	Weak transcription	K562	blood
47	chr1:193162200-193174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:193162200-193174400	Weak transcription	Fetal Thymus	thymus
49	chr1:193162200-193174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:193162200-193174800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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