Variant report

Variant	rs9975693
Chromosome Location	chr21:41510227-41510228
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	chr21:41505128..41507187-chr21:41508782..41511604,2	MCF-7	breast:
2	chr21:41507356..41527112-chr21:41751014..41762921,70	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235123	Chromatin interaction

rs_ID	r²[population]
rs2837448	0.98[EUR][1000 genomes]
rs387213	0.98[EUR][1000 genomes]
rs392167	0.98[EUR][1000 genomes]
rs397565	0.96[EUR][1000 genomes]
rs406398	0.98[EUR][1000 genomes]
rs408999	0.90[EUR][1000 genomes]
rs430433	0.98[EUR][1000 genomes]
rs431425	0.94[EUR][1000 genomes]
rs445051	0.97[EUR][1000 genomes]
rs445822	0.81[EUR][1000 genomes]
rs448324	0.98[EUR][1000 genomes]
rs449023	0.90[EUR][1000 genomes]
rs7281745	0.98[EUR][1000 genomes]

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41492400-41510400	Weak transcription	Fetal Brain Female	brain
2	chr21:41494200-41511600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:41499000-41517200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:41500400-41510600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:41500600-41516200	Weak transcription	Fetal Brain Male	brain
6	chr21:41500800-41516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:41503000-41513200	Weak transcription	HMEC	breast
8	chr21:41503000-41518400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:41505000-41526400	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:41506400-41511800	Weak transcription	Brain Anterior Caudate	brain
11	chr21:41507600-41511600	Weak transcription	Fetal Heart	heart
12	chr21:41509800-41510400	Weak transcription	Brain Germinal Matrix	brain
13	chr21:41509800-41512600	Weak transcription	Brain Substantia Nigra	brain
14	chr21:41510200-41510400	Enhancers	Spleen	Spleen
15	chr21:41510200-41510800	ZNF genes & repeats	Brain Angular Gyrus	brain
16	chr21:41510200-41511000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:41510200-41511000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:41510200-41511000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr21:41510200-41511000	ZNF genes & repeats	Fetal Kidney	kidney
20	chr21:41510200-41511000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr21:41510200-41511200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:41510200-41513200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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