Variant report

Variant	rs73124829
Chromosome Location	chr12:41727225-41727226
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	chr12:41726380..41728988-chr12:41729425..41732351,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73126876	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73130641	1.00[AFR][1000 genomes]
rs73130645	1.00[AFR][1000 genomes]
rs983194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41721200-41729600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41721400-41727600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:41721400-41728000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:41721600-41727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:41722800-41733000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:41723200-41731200	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:41726000-41728600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:41726200-41727400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:41726200-41727400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:41726200-41728000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:41726400-41727800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:41726600-41727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:41726600-41728800	Enhancers	Brain Germinal Matrix	brain
14	chr12:41726800-41727600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:41726800-41730400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:41727000-41727800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:41727000-41728600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:41727000-41730200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:41727000-41730600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:41727000-41730600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:41727200-41728400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:41727200-41728600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:41727200-41728600	Enhancers	Brain Substantia Nigra	brain
24	chr12:41727200-41728800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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