Variant report

Variant	rs61819593
Chromosome Location	chr1:214616229-214616230
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	chr1:214615872..214617587-chr1:214619131..214620806,2	MCF-7	breast:

rs_ID	r²[population]
rs17789069	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17790652	0.86[EUR][1000 genomes]
rs61819598	1.00[AMR][1000 genomes]
rs61819615	0.91[AMR][1000 genomes]
rs61819619	0.91[EUR][1000 genomes]
rs61819626	0.91[EUR][1000 genomes]
rs61819634	0.89[EUR][1000 genomes]
rs61819639	0.89[EUR][1000 genomes]
rs61819645	0.83[EUR][1000 genomes]
rs61819646	0.84[EUR][1000 genomes]

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214594000-214618000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:214601600-214625200	Weak transcription	Esophagus	oesophagus
3	chr1:214601600-214633000	Weak transcription	Gastric	stomach
4	chr1:214602800-214617600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:214604000-214617600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:214610400-214620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:214610600-214617000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:214611600-214619200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:214611600-214620400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:214611800-214618000	Weak transcription	Right Atrium	heart
11	chr1:214611800-214620400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:214611800-214623200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:214612800-214616800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:214613000-214619800	Weak transcription	Fetal Brain Male	brain
15	chr1:214613000-214649400	Weak transcription	Lung	lung
16	chr1:214613200-214616800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:214613200-214617600	Weak transcription	Fetal Stomach	stomach
18	chr1:214613200-214617800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:214613200-214618400	Weak transcription	Left Ventricle	heart
20	chr1:214613200-214620600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:214613200-214620600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:214613200-214628400	Weak transcription	Ovary	ovary
23	chr1:214613200-214633400	Weak transcription	Pancreas	Pancrea
24	chr1:214613400-214617000	Weak transcription	HSMMtube	muscle
25	chr1:214613400-214618000	Weak transcription	Adipose Nuclei	Adipose
26	chr1:214613400-214620200	Weak transcription	Brain Angular Gyrus	brain
27	chr1:214613600-214617000	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:214613600-214618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:214613600-214618200	Weak transcription	Colonic Mucosa	Colon
30	chr1:214613600-214618600	Weak transcription	Placenta	Placenta
31	chr1:214613600-214619000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:214613600-214619200	Weak transcription	Brain Anterior Caudate	brain
33	chr1:214613600-214619400	Weak transcription	Brain Substantia Nigra	brain
34	chr1:214613600-214620600	Weak transcription	Fetal Lung	lung
35	chr1:214613800-214617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:214614200-214617200	Weak transcription	Hela-S3	cervix
37	chr1:214614200-214619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:214614200-214619200	Weak transcription	Fetal Kidney	kidney
39	chr1:214614400-214616600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:214614400-214616600	Strong transcription	HSMM	muscle
41	chr1:214614400-214618000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:214614400-214618000	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:214614400-214618000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:214614400-214618000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:214614400-214620400	Weak transcription	Fetal Intestine Small	intestine
46	chr1:214614600-214618400	Genic enhancers	NHEK	skin
47	chr1:214614600-214619200	Weak transcription	Stomach Mucosa	stomach
48	chr1:214614600-214619600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:214614600-214619800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:214614800-214617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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