Variant report

Variant	rs73000167
Chromosome Location	chr1:114565244-114565245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114563136..114568125-chr1:114568802..114572804,6	MCF-7	breast:
2	chr1:114563994..114566122-chr1:114567338..114568863,2	K562	blood:
3	chr1:114565136..114566738-chr1:114579035..114581815,2	MCF-7	breast:
4	chr1:114551859..114553790-chr1:114563560..114565413,2	MCF-7	breast:
5	chr1:114565150..114566760-chr1:114567203..114568734,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs60565055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990447	1.00[AMR][1000 genomes]
rs72990454	1.00[AMR][1000 genomes]
rs72990460	1.00[AMR][1000 genomes]
rs72998111	1.00[AMR][1000 genomes]
rs72998179	1.00[AMR][1000 genomes]
rs72998192	1.00[AMR][1000 genomes]
rs73000165	1.00[AMR][1000 genomes]
rs73000171	1.00[AMR][1000 genomes]
rs73002090	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114547400-114568600	Weak transcription	Right Atrium	heart
2	chr1:114552400-114565600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:114557400-114566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:114558200-114566000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:114562800-114566200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:114562800-114568800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:114563000-114565400	Enhancers	Fetal Intestine Small	intestine
8	chr1:114563000-114565800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:114563000-114566000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:114563200-114566200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:114563400-114566000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:114563800-114566600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:114564200-114567800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:114564400-114565600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:114564400-114566000	Weak transcription	Placenta	Placenta
16	chr1:114564400-114567200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:114564400-114567200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:114564400-114567800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:114564600-114566400	Weak transcription	HSMM	muscle
20	chr1:114564800-114566000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:114564800-114566000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:114564800-114566000	Weak transcription	Psoas Muscle	Psoas
23	chr1:114565000-114565400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:114565000-114566000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:114565000-114566200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:114565200-114571000	Enhancers	HSMMtube	muscle

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