Variant report

Variant	rs58729268
Chromosome Location	chr1:212214204-212214205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212188937..212191078-chr1:212212005..212214443,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17018330	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018414	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34836942	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60848591	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60875991	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072552	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089282	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73089287	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73091053	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091065	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091075	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091210	1.00[EUR][1000 genomes]
rs7517502	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58729268	DTL	cis	multi-tissue	Pritchard

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212209400-212217800	Weak transcription	Small Intestine	intestine
2	chr1:212209600-212226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:212209600-212253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:212210400-212223600	Weak transcription	HSMM	muscle
5	chr1:212210400-212227400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:212210400-212228800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:212210400-212228800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:212210400-212228800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:212210600-212214600	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr1:212210600-212215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:212210600-212227400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:212210600-212229200	Weak transcription	Fetal Brain Female	brain
13	chr1:212210800-212216800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:212210800-212217400	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:212210800-212220800	Weak transcription	Fetal Stomach	stomach
16	chr1:212210800-212241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:212211000-212218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:212211000-212227200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:212211200-212214600	Enhancers	HUVEC	blood vessel
20	chr1:212211400-212214400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:212211400-212224000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:212211400-212226600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:212211400-212229200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:212211600-212214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:212211600-212218200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:212211600-212218200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:212211600-212227400	Weak transcription	Fetal Lung	lung
28	chr1:212211800-212218200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:212211800-212223600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:212212000-212214600	Genic enhancers	Hela-S3	cervix
31	chr1:212212000-212219200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:212212000-212220600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:212212000-212223000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:212212000-212228400	Weak transcription	Brain Germinal Matrix	brain
35	chr1:212212000-212229200	Weak transcription	Fetal Kidney	kidney
36	chr1:212212400-212214600	Enhancers	HMEC	breast
37	chr1:212212800-212214400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:212212800-212214400	Enhancers	NHEK	skin
39	chr1:212212800-212214800	Enhancers	HepG2	liver
40	chr1:212213000-212214600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:212213000-212214800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:212213000-212227000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:212213200-212216200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:212213600-212214400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:212213600-212214600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:212213600-212214600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:212213600-212214600	ZNF genes & repeats	K562	blood
48	chr1:212213800-212214400	Enhancers	NH-A	brain
49	chr1:212213800-212214400	Enhancers	NHDF-Ad	bronchial
50	chr1:212213800-212214600	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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