Variant report

Variant	rs73227913
Chromosome Location	chr12:122031486-122031487
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	chr12:122014726..122017579-chr12:122028385..122031579,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction

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

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

rs_ID	r²[population]
rs28461264	1.00[EUR][1000 genomes]
rs28468612	0.97[EUR][1000 genomes]
rs28490151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981001	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4981012	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60186830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7313954	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73227908	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73227911	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7397580	0.93[EUR][1000 genomes];0.88[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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122020800-122040400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:122021200-122036000	Weak transcription	Brain Germinal Matrix	brain
3	chr12:122021600-122033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:122028200-122031800	Enhancers	Placenta	Placenta
5	chr12:122028200-122038800	Weak transcription	Pancreas	Pancrea
6	chr12:122028600-122048000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:122028600-122048400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:122028800-122032000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:122028800-122032400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:122028800-122033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:122028800-122036000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:122028800-122048400	Weak transcription	Brain Angular Gyrus	brain
13	chr12:122028800-122049000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:122028800-122064000	Weak transcription	Right Atrium	heart
15	chr12:122029000-122033400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:122029200-122032000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:122029200-122032400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:122029200-122032400	Weak transcription	Brain Substantia Nigra	brain
19	chr12:122029200-122032800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:122029200-122032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:122029200-122032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:122029200-122032800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:122029200-122033600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:122029200-122033600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:122029200-122033600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:122029200-122033600	Weak transcription	K562	blood
27	chr12:122029200-122033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:122029200-122034600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:122029200-122036200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:122029200-122036600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:122029200-122038000	Weak transcription	NHLF	lung
32	chr12:122029200-122038200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:122029200-122038800	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:122029200-122038800	Weak transcription	HSMMtube	muscle
35	chr12:122029200-122049800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:122029400-122033600	Weak transcription	Dnd41	blood
37	chr12:122029400-122035600	Weak transcription	Fetal Stomach	stomach
38	chr12:122029400-122035800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:122029400-122037000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:122029800-122031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:122029800-122036400	Weak transcription	Fetal Brain Female	brain
42	chr12:122030200-122037200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:122030400-122034000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:122030400-122036400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:122030600-122031600	Weak transcription	HepG2	liver
46	chr12:122030600-122031800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:122030600-122032600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:122030600-122032600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:122030600-122033800	Weak transcription	Thymus	Thymus
50	chr12:122030600-122035600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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