Variant report

Variant	rs59692841
Chromosome Location	chr1:227003524-227003525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226997587..227000105-chr1:227001744..227003689,2	K562	blood:
2	chr1:226924516..226928386-chr1:226999623..227003731,5	MCF-7	breast:
3	chr1:226898681..226901320-chr1:227002412..227005271,2	MCF-7	breast:
4	chr1:227001349..227004344-chr1:227005535..227008816,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143772	Chromatin interaction

rs_ID	r²[population]
rs1341281	1.00[EUR][1000 genomes]
rs1341282	1.00[EUR][1000 genomes]
rs16846590	1.00[EUR][1000 genomes]
rs4520384	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57594469	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58698650	1.00[EUR][1000 genomes]
rs58973334	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59683545	1.00[EUR][1000 genomes]
rs60232264	0.81[AFR][1000 genomes]
rs60294511	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60560949	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61103575	1.00[EUR][1000 genomes]
rs61185121	1.00[EUR][1000 genomes]
rs6426539	1.00[EUR][1000 genomes]
rs6426540	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6671059	1.00[EUR][1000 genomes]
rs6675452	1.00[EUR][1000 genomes]
rs6677908	1.00[EUR][1000 genomes]
rs6678839	1.00[EUR][1000 genomes]
rs6678940	1.00[EUR][1000 genomes]
rs708764	0.86[AFR][1000 genomes]
rs708765	0.86[AFR][1000 genomes]
rs74139805	1.00[EUR][1000 genomes]
rs74139806	1.00[EUR][1000 genomes]
rs7522645	1.00[EUR][1000 genomes]
rs7523790	1.00[EUR][1000 genomes]
rs7525819	1.00[EUR][1000 genomes]
rs7555672	1.00[EUR][1000 genomes]
rs835660	0.86[AFR][1000 genomes]

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226994800-227007000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226995800-227009800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:227000800-227004200	Enhancers	Fetal Intestine Large	intestine
4	chr1:227001400-227003600	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:227001400-227003600	Enhancers	Fetal Muscle Leg	muscle
6	chr1:227001400-227003600	Enhancers	Psoas Muscle	Psoas
7	chr1:227001400-227004000	Enhancers	Adipose Nuclei	Adipose
8	chr1:227001400-227004000	Enhancers	Fetal Thymus	thymus
9	chr1:227001400-227004000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:227001400-227004200	Enhancers	Fetal Intestine Small	intestine
11	chr1:227001400-227005000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:227001400-227005000	Enhancers	HMEC	breast
13	chr1:227001400-227005200	Enhancers	NHLF	lung
14	chr1:227001600-227003600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:227001600-227004000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:227001600-227004200	Enhancers	Brain Anterior Caudate	brain
17	chr1:227001600-227005200	Enhancers	NHDF-Ad	bronchial
18	chr1:227001800-227004800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:227001800-227005200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:227001800-227005200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:227002000-227003600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:227002000-227003600	Enhancers	Fetal Muscle Trunk	muscle
23	chr1:227002000-227003600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:227002000-227003800	Enhancers	Fetal Stomach	stomach
25	chr1:227002000-227004800	Enhancers	Placenta	Placenta
26	chr1:227002000-227005000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:227002200-227005200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:227002600-227003600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:227002600-227003600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:227002600-227004200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:227002600-227004200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:227002800-227003600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:227002800-227003600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:227002800-227003600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:227002800-227004000	Enhancers	Esophagus	oesophagus
36	chr1:227003000-227003600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:227003000-227004200	Enhancers	A549	lung
38	chr1:227003200-227003600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:227003200-227003600	Enhancers	Lung	lung
40	chr1:227003200-227004200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:227003200-227004200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:227003200-227005400	Enhancers	HUVEC	blood vessel
43	chr1:227003200-227008000	Weak transcription	Right Atrium	heart
44	chr1:227003200-227008200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:227003400-227003600	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:227003400-227004200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:227003400-227004600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:227003400-227004800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:227003400-227004800	Enhancers	Hela-S3	cervix
50	chr1:227003400-227005000	Enhancers	NHEK	skin

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