Variant report

Variant	rs2193031
Chromosome Location	chr12:11774869-11774870
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	chr12:11774248..11776994-chr12:11784131..11786795,2	K562	blood:
2	chr12:11743464..11745088-chr12:11772818..11775171,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10082872	0.85[EUR][1000 genomes]
rs12303794	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17210029	0.87[EUR][1000 genomes]
rs2193029	0.91[ASN][1000 genomes]
rs2216158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763257	0.84[ASN][1000 genomes]
rs4763258	0.91[ASN][1000 genomes]
rs4763260	0.85[EUR][1000 genomes]
rs6488433	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6488438	0.98[ASN][1000 genomes]
rs6488439	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133052	0.89[ASN][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	nsv898803	chr12:11757867-11794636	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv470267	chr12:11767406-11787989	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11760800-11775600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:11769000-11775400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:11769000-11775400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:11770200-11776000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:11771400-11775400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:11771600-11775200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:11772000-11775000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:11772000-11775200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:11772000-11775200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:11772400-11775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:11773400-11775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:11773600-11775400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:11774000-11775400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:11774000-11775400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:11774400-11777000	Enhancers	Fetal Thymus	thymus
16	chr12:11774800-11775400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:11774800-11776000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:11774800-11776800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:11774800-11777000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:11774800-11777000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:11774800-11777200	Enhancers	Primary hematopoietic stem cells	blood

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