Variant report

Variant	rs734542
Chromosome Location	chr12:68278577-68278578
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	chr12:68277393..68280133-chr12:68286464..68288181,2	MCF-7	breast:
2	chr12:68263302..68265414-chr12:68278422..68280462,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1905454	0.89[EUR][1000 genomes]
rs1922656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2077121	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2192783	0.86[EUR][1000 genomes]
rs3014996	0.86[EUR][1000 genomes]
rs3850591	0.87[EUR][1000 genomes]
rs741290	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68274400-68279000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:68275600-68279600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:68275800-68280800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:68277200-68279600	Enhancers	Psoas Muscle	Psoas
5	chr12:68277200-68281600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:68277400-68279400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:68277400-68279600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:68277600-68278800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:68277600-68278800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:68277600-68279000	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:68277600-68279600	Enhancers	Colon Smooth Muscle	Colon
12	chr12:68277600-68280800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:68277800-68278600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:68277800-68279400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:68278000-68280400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:68278000-68281200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr12:68278200-68280200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:68278200-68283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:68278400-68278600	Enhancers	HSMMtube	muscle
20	chr12:68278400-68278800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:68278400-68279600	Weak transcription	Brain Germinal Matrix	brain
22	chr12:68278400-68284600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:68278400-68284600	Weak transcription	Fetal Muscle Leg	muscle

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