Variant report

Variant	rs12723424
Chromosome Location	chr1:59219121-59219122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59217055..59218616-chr1:59218904..59221423,2	K562	blood:
2	chr1:59215864..59218251-chr1:59218581..59221945,3	MCF-7	breast:
3	chr1:59217240..59220622-chr1:59226403..59228329,3	K562	blood:
4	chr1:59212166..59214810-chr1:59218835..59222671,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12752760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17264985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17265089	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1980700	0.80[EUR][1000 genomes]
rs2811890	0.80[EUR][1000 genomes]
rs33989940	0.80[EUR][1000 genomes]
rs34328062	0.80[EUR][1000 genomes]
rs34399110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34417049	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs34451092	0.80[EUR][1000 genomes]
rs34938302	0.80[EUR][1000 genomes]
rs34984409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35299642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35315513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35354349	0.80[EUR][1000 genomes]
rs55805512	0.80[EUR][1000 genomes]
rs61778520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59206200-59221000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:59207600-59220000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:59207800-59220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:59207800-59220000	Weak transcription	Psoas Muscle	Psoas
5	chr1:59211600-59221000	Weak transcription	Stomach Mucosa	stomach
6	chr1:59212000-59220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:59215200-59221200	Weak transcription	Fetal Brain Female	brain
8	chr1:59215200-59221200	Weak transcription	Fetal Stomach	stomach
9	chr1:59215400-59219800	Weak transcription	Fetal Brain Male	brain
10	chr1:59215400-59221000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:59216800-59220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:59217600-59221000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:59217800-59220800	Enhancers	Hela-S3	cervix
14	chr1:59217800-59221000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:59218000-59219600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:59218000-59220800	Enhancers	Dnd41	blood
17	chr1:59218000-59223200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:59218200-59219600	Enhancers	Pancreas	Pancrea
19	chr1:59218200-59220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:59218200-59220800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:59218200-59221000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:59218200-59223000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:59218200-59223200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:59218200-59223800	Enhancers	NHDF-Ad	bronchial
25	chr1:59218400-59219400	Enhancers	Brain Anterior Caudate	brain
26	chr1:59218400-59219400	Flanking Active TSS	HepG2	liver
27	chr1:59218400-59219400	Enhancers	K562	blood
28	chr1:59218400-59219600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:59218400-59220000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:59218400-59220800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:59218400-59221000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:59218400-59221800	Enhancers	A549	lung
33	chr1:59218400-59222200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:59218400-59222800	Enhancers	NHEK	skin
35	chr1:59218400-59223000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:59218600-59219200	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:59218600-59219200	Enhancers	Fetal Lung	lung
38	chr1:59218600-59219400	Flanking Active TSS	Liver	Liver
39	chr1:59218600-59219400	Enhancers	Brain Hippocampus Middle	brain
40	chr1:59218600-59219600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:59218600-59220800	Enhancers	HSMMtube	muscle
42	chr1:59218600-59221000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:59218600-59222400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:59218600-59222400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:59218600-59222800	Enhancers	HMEC	breast
46	chr1:59218600-59223400	Enhancers	NHLF	lung
47	chr1:59218800-59219200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:59218800-59219200	Enhancers	Esophagus	oesophagus
49	chr1:59218800-59219200	Enhancers	Fetal Muscle Leg	muscle
50	chr1:59218800-59219400	Enhancers	Brain Germinal Matrix	brain

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