Variant report

Variant	rs688815
Chromosome Location	chr12:48040067-48040068
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	chr12:48038756..48040401-chr12:48092675..48094968,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10875679	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1153975	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1232976	0.83[AMR][1000 genomes]
rs1232981	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1232982	0.85[EUR][1000 genomes]
rs1232983	0.86[EUR][1000 genomes]
rs1232985	0.86[EUR][1000 genomes]
rs1232986	0.86[EUR][1000 genomes]
rs1233042	0.92[ASN][1000 genomes]
rs1233044	0.89[ASN][1000 genomes]
rs1233045	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233046	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233047	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1233049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1233050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233052	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1233053	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233055	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1234820	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1235151	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1237842	0.86[EUR][1000 genomes]
rs2022526	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2022527	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2155794	0.80[ASN][1000 genomes]
rs2155795	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2524317	0.84[ASN][1000 genomes]
rs2525448	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2525449	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2847433	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2847434	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs587577	0.84[ASN][1000 genomes]
rs590089	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs603042	0.86[ASN][1000 genomes]
rs605026	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs611208	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs612096	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs618038	0.84[ASN][1000 genomes]
rs61917588	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61917615	0.86[AFR][1000 genomes]
rs61919786	0.81[ASN][1000 genomes]
rs622728	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs623947	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs628070	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652457	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652543	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs652898	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs653843	0.82[ASN][1000 genomes]
rs657246	0.84[ASN][1000 genomes]
rs663945	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs666154	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs667610	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs681100	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs682782	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs948392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs948394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48041800	Weak transcription	HSMMtube	muscle
2	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
3	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:48016000-48044400	Weak transcription	NH-A	brain
6	chr12:48023600-48044800	Weak transcription	Gastric	stomach
7	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
8	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:48030800-48042000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:48031000-48044600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
12	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:48031400-48042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:48031400-48042000	Weak transcription	K562	blood
16	chr12:48031400-48044600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:48031400-48046200	Weak transcription	Fetal Stomach	stomach
18	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:48031600-48044000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:48031600-48044600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:48032200-48045800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:48035000-48044600	Weak transcription	HSMM	muscle
23	chr12:48036400-48044600	Weak transcription	NHDF-Ad	bronchial
24	chr12:48036600-48055400	Weak transcription	Ovary	ovary
25	chr12:48037400-48042200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:48038000-48042000	Weak transcription	Placenta	Placenta
27	chr12:48038000-48042200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:48038200-48044200	Weak transcription	Osteobl	bone
29	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
30	chr12:48038400-48044200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:48038600-48051400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:48038800-48042200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:48038800-48044600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:48038800-48045000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:48038800-48045800	Weak transcription	Primary T cells from cord blood	blood
36	chr12:48038800-48046000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:48039000-48040200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:48039000-48041600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:48039000-48044600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:48039000-48052800	Weak transcription	Dnd41	blood
41	chr12:48039200-48044600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:48039200-48044800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:48039200-48045000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:48039200-48046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:48039200-48046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:48039200-48052800	Weak transcription	Fetal Intestine Large	intestine
47	chr12:48039400-48040200	Strong transcription	Primary B cells from cord blood	blood
48	chr12:48039400-48040600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:48039400-48045000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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