Variant report

Variant	rs12740847
Chromosome Location	chr1:71141473-71141474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71131135..71133902-chr1:71140118..71142284,2	K562	blood:
2	chr1:71139654..71142192-chr1:71144510..71147443,2	MCF-7	breast:
3	chr1:71140625..71143147-chr1:71147219..71151401,4	K562	blood:
4	chr1:71139809..71142590-chr1:71513361..71515256,2	K562	blood:

Variant related genes	Relation type
ENSG00000235079	Chromatin interaction
ENSG00000050628	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11209675	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12750733	0.83[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	nsv871024	chr1:71088106-71169865	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv517877	chr1:71137936-71142202	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71139000-71145400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:71139400-71143200	Weak transcription	Ovary	ovary
3	chr1:71139800-71142400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:71140200-71141600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:71140400-71141800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:71140400-71142400	Flanking Active TSS	K562	blood
7	chr1:71140600-71141600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:71140600-71141800	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:71140600-71141800	Enhancers	Fetal Thymus	thymus
10	chr1:71140600-71143000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:71140800-71141800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:71140800-71142200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:71140800-71142200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:71140800-71142400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:71140800-71142400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:71141000-71141600	Enhancers	Gastric	stomach
17	chr1:71141000-71141800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:71141000-71141800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:71141000-71141800	Enhancers	Dnd41	blood
20	chr1:71141000-71142400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:71141200-71141600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:71141200-71141600	Enhancers	Fetal Muscle Leg	muscle
23	chr1:71141400-71141600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:71141400-71141600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:71141400-71141600	Enhancers	Pancreas	Pancrea
26	chr1:71141400-71141800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:71141400-71141800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:71141400-71141800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:71141400-71141800	Enhancers	Primary T cells from cord blood	blood
30	chr1:71141400-71141800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:71141400-71141800	Enhancers	GM12878-XiMat	blood
32	chr1:71141400-71142000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:71141400-71142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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